research about breast cancer

• IT’S ADVANCING OUR UNDERSTANDING OF BREAST CANCER
• IT’S SAVING LIVES, IMPROVING OUTCOMES
• IT’S LEADING TO PREVENTION & A CURE
• RESEARCH IS THE REASON STORIES
• Our Approach
• The Ground We’ve Gained
• Areas of Focus
• Meet Our Researchers
• Collaborative Initiatives
• Start Your Fundraiser
• Make a planned gift
• Game for BCRF
• Other Ways to Give
• Become a Partner
• Find an event
• Our History
• Board of Directors
• Scientific Advisors
• Corporate Partners
• Affiliate Organizations
• Major Donors
• Blog: The Progress Report
• Podcasts: Investigating Breast Cancer
• Video Series: Behind the Breakthroughs
• Stories: Research is the reason
• BCRF Publications
• Research is the reason

Research Moves Us Forward

Your gift supports the research that gives people who have breast cancer longer, healthier lives.

The Breast Cancer Research Foundation is dedicated to ending breast cancer by advancing the world’s most promising research.

This year, BCRF is the largest private funder of breast cancer research—and metastatic breast cancer research—worldwide and is the highest-rated breast cancer research organization in the country.

THIS YEAR'S INVESTMENT

One-third of our research program is dedicated to metastasis.

METASTATIC BREAST CANCER

BCRF explains this form and highlights our MBC investment.

BREAST CANCER RACIAL DISPARTIES

Explore how BCRF researchers are working to end disparities.

Research Is the Reason

Nasreen is grateful to research for the fact that her metastatic breast cancer has responded well to treatment.

From Our Blog

KnitWell Brands Unite for the First Time to Advance Research

Research Is the Reason We Survived

Inflammatory Breast Cancer: All About This Rare Form

Dense Breast Tissue: What It Means and What to Know

Take BCRF’s Virtual Fitness Challenge to Support Research

Breast Cancer Stages and What They Mean

Meet our researchers.

Learn more about the over 250 investigators BCRF funds.

FUNDRAISE FOR BCRF

We make it easy to make a difference. Get started today.

SHOP PINK, SAVE LIVES

Support brands and products that fuel BCRF’s research.

MAKE A PLANNED GIFT

Use our FreeWill tool to build your legacy: a world without breast cancer.

Get The Latest

Connect with us.

Please remember BCRF in your will planning.  Learn More

Breast Cancer Research Foundation 28 West 44th Street, Suite 609, New York, NY 10036

General Office: 646-497-2600 | Toll Free: 1-866-346-3228 [email protected]  | BCRF is a 501 (c)(3) | EIN: 13-3727250

• Privacy Policy

• Search by keyword
• Search by citation

Page 1 of 109

CAR expression in invasive breast carcinoma and its effect on adenovirus transduction efficiency

Breast cancer is the second leading cause of death in women, with invasive ductal carcinoma (IDC) and invasive lobular carcinoma (ILC) as the two most common forms of invasive breast cancer. While estrogen rec...

• View Full Text

Characteristics and transcriptional regulators of spontaneous epithelial–mesenchymal transition in genetically unperturbed patient-derived non-spindled breast carcinoma

Although tumor cells undergoing epithelial–mesenchymal transition (EMT) typically exhibit spindle morphology in experimental models, such histomorphological evidence of EMT has predominantly been observed in r...

Single-cell transcriptional atlas of tumor-associated macrophages in breast cancer

The internal heterogeneity of breast cancer, notably the tumor microenvironment (TME) consisting of malignant and non-malignant cells, has been extensively explored in recent years. The cells in this complex c...

Challenges and improvements in HER2 scoring and histologic evaluation: insights from a national proficiency testing scheme for breast cancer diagnosis in China

In 2022, our team launched the pioneering national proficiency testing (PT) scheme for the pathological diagnosis of breast cancer, rapidly establishing its credibility throughout China. Aiming to continuously...

Analysis of ductal carcinoma in situ by self-reported race reveals molecular differences related to outcome

Ductal carcinoma in situ (DCIS) is a non-obligate precursor to invasive breast cancer (IBC). Studies have indicated differences in DCIS outcome based on race or ethnicity, but molecular differences have not be...

Elevated expression of Aurora-A/ AURKA in breast cancer associates with younger age and aggressive features

Aurora kinase A ( AURKA ) is reported to be overexpressed in breast cancer. In addition to its role in regulating cell cycle and mitosis, studies have reported AURKA involvements in oncogenic signaling in suppressi...

Systematic assessment of HER2 status in ductal carcinoma in situ of the breast: a perspective on the potential clinical relevance

In many countries, hormone receptor status assessment of ductal carcinoma in situ (DCIS) is routinely performed, as hormone receptor-positive DCIS patients are eligible for adjuvant anti-hormonal treatment, ai...

Weakly-supervised deep learning models enable HER2-low prediction from H &E stained slides

Human epidermal growth factor receptor 2 (HER2)-low breast cancer has emerged as a new subtype of tumor, for which novel antibody–drug conjugates have shown beneficial effects. Assessment of HER2 requires seve...

Validation of an AI-based solution for breast cancer risk stratification using routine digital histopathology images

Stratipath Breast is a CE-IVD marked artificial intelligence-based solution for prognostic risk stratification of breast cancer patients into high- and low-risk groups, using haematoxylin and eosin (H&E)-stain...

The SEMA3F-NRP1/NRP2 axis is a key factor in the acquisition of invasive traits in in situ breast ductal carcinoma

A better understanding of ductal carcinoma in situ (DCIS) is urgently needed to identify these preinvasive lesions as distinct clinical entities. Semaphorin 3F (SEMA3F) is a soluble axonal guidance molecule, a...

Association of Life’s Essential 8 cardiovascular health with breast cancer incidence and mortality according to genetic susceptibility of breast cancer: a prospective cohort study

Accumulating evidence suggests that cardiovascular diseases and breast cancer share a number of common risk factors, however, evidence on the association between cardiovascular health (CVH) and breast cancer i...

Micrometastases in axillary lymph nodes in breast cancer, post-neoadjuvant systemic therapy

The significance of minimal residual axillary disease, specifically micrometastases, following neoadjuvant systemic therapy (NST) remains largely unexplored. Our study aimed to elucidate the prognostic implica...

Development of a humanized anti-FABP4 monoclonal antibody for potential treatment of breast cancer

Breast cancer is the most common cancer in women diagnosed in the U.S. and worldwide. Obesity increases breast cancer risk without clear underlying molecular mechanisms. Our studies demonstrate that circulatin...

Genomic profiling and comparative analysis of male versus female metastatic breast cancer across subtypes

Male breast cancer (MaBC) has limited data on genomic alterations. We aimed to comprehensively describe and compare MaBC’s genomics with female breast cancer’s (FBC) across subtypes.

Downregulation of tRF-Cys-GCA-029 by hyperglycemia promotes tumorigenesis and glycolysis of diabetic breast cancer through upregulating PRKCG translation

Diabetes mellitus (DM) affects up to one-third of breast cancer (BC) patients. Patients with co-existing BC and DM (BC-DM) have worsened BC prognosis. Nevertheless, the molecular mechanisms orchestrating BC-DM...

Associations between quantitative measures of mammographic density and terminal ductal lobular unit involution in Chinese breast cancer patients

Higher mammographic density (MD), a radiological measure of the proportion of fibroglandular tissue in the breast, and lower terminal duct lobular unit (TDLU) involution, a histological measure of the amount o...

Stromal lymphocytes are associated with upgrade of B3 breast lesions

Various histopathological, clinical and imaging parameters have been evaluated to identify a subset of women diagnosed with lesions with uncertain malignant potential (B3 or BIRADS 3/4A lesions) who could safe...

Epigallocatechin gallate and curcumin inhibit Bcl-2: a pharmacophore and docking based approach against cancer

The protein Bcl-2, well-known for its anti-apoptotic properties, has been implicated in cancer pathogenesis. Identifying the primary gene responsible for promoting improved cell survival and development has pr...

GNA13 suppresses proliferation of ER+ breast cancer cells via ERα dependent upregulation of the MYC oncogene

GNA13 (Gα13) is one of two alpha subunit members of the G12/13 family of heterotrimeric G-proteins which mediate signaling downstream of GPCRs. It is known to be essential for embryonic development and vasculogen...

Promoter profiles in plasma CfDNA exhibits a potential utility of predicting the efficacy of neoadjuvant chemotherapy in breast cancer patients

Gene expression profiles in breast tissue biopsies contain information related to chemotherapy efficacy. The promoter profiles in cell-free DNA (cfDNA) carrying gene expression information of the original tiss...

Androgen receptor-mediated pharmacogenomic expression quantitative trait loci: implications for breast cancer response to AR-targeting therapy

Endocrine therapy is the most important treatment modality of breast cancer patients whose tumors express the estrogen receptor α (ERα). The androgen receptor (AR) is also expressed in the vast majority (80–90...

Functions of methyltransferase-like 3 in breast cancer: pathogenesis, drug resistance, and therapeutic target

Breast cancer (BC) is a highly prevalent malignancy worldwide, with complex pathogenesis and treatment challenges. Research reveals that methyltransferase-like 3 (METTL3) is widely involved in the pathogenesis...

Effect of testosterone therapy on breast tissue composition and mammographic breast density in trans masculine individuals

The effect of gender-affirming testosterone therapy (TT) on breast cancer risk is unclear. This study investigated the association between TT and breast tissue composition and breast tissue density in trans ma...

Utilizing human cerebral organoids to model breast cancer brain metastasis in culture

Metastasis, the spread, and growth of malignant cells at secondary sites within a patient’s body, accounts for over 90% of cancer-related mortality. Breast cancer is the most common tumor type diagnosed and th...

A prospective study of HER3 expression pre and post neoadjuvant therapy of different breast cancer subtypes: implications for HER3 imaging therapy guidance

HER3, a member of the EGFR receptor family, plays a central role in driving oncogenic cell proliferation in breast cancer. Novel HER3 therapeutics are showing promising results while recently developed HER3 PE...

Atypical cell cycle regulation promotes mammary stem cell expansion during mammary development and tumourigenesis

The cell cycle of mammary stem cells must be tightly regulated to ensure normal homeostasis of the mammary gland to prevent abnormal proliferation and susceptibility to tumorigenesis. The atypical cell cycle r...

Circular RNA HSDL2 promotes breast cancer progression via miR-7978 ZNF704 axis and regulating hippo signaling pathway

Circular RNAs (circRNAs) are a new group of endogenous RNAs recently found to be involved in the development of various diseases, including their confirmed involvement in the progression of several types of ca...

Evaluating the immunologically “cold” tumor microenvironment after treatment with immune checkpoint inhibitors utilizing PET imaging of CD4 + and CD8 + T cells in breast cancer mouse models

Immune-positron emission tomography (PET) imaging with tracers that target CD8 and granzyme B has shown promise in predicting the therapeutic response following immune checkpoint blockade (ICB) in immunologica...

TFAP2A downregulation mediates tumor-suppressive effect of miR-8072 in triple-negative breast cancer via inhibiting SNAI1 transcription

Triple-negative breast cancer (TNBC) represents a highly aggressive subset of breast malignancies characterized by its challenging clinical management and unfavorable prognosis. While TFAP2A, a member of the A...

Association of early menarche with breast tumor molecular features and recurrence

Early menarche is an established risk factor for breast cancer but its molecular contribution to tumor biology and prognosis remains unclear.

Trends in chemotherapy use for early-stage breast cancer from 2006 to 2019

Little is known about how use of chemotherapy has evolved in breast cancer patients. We therefore describe chemotherapy patterns for women with stage I-IIIA breast cancer in the Optimal Breast Cancer Chemother...

In situ HER2 RNA expression as a predictor of pathologic complete response of HER2-positive breast cancer patients receiving neoadjuvant chemotherapy and anti-HER2 targeted treatment

Immunohistochemistry (IHC) and in situ hybridization (ISH) remain standard biomarkers for therapeutic decisions in human epidermal growth factor 2 (HER2)-positive breast cancers (BCs); however, they are insuff...

Trastuzumab-functionalized bionic pyrotinib liposomes for targeted therapy of HER2-positive breast cancer

In this study, we prepared a bionic nanosystem of trastuzumab-functionalized SK-BR-3 cell membrane hybrid liposome-coated pyrotinib (Ptb-M-Lip-Her) for the treatment of HER2-positive breast cancer. Transmissio...

An essential gene signature of breast cancer metastasis reveals targetable pathways

The differential gene expression profile of metastatic versus primary breast tumors represents an avenue for discovering new or underappreciated pathways underscoring processes of metastasis. However, as tumor...

Pre-treatment peripheral blood immunophenotyping and response to neoadjuvant chemotherapy in operable breast cancer

Tumor immune infiltration and peripheral blood immune signatures have prognostic and predictive value in breast cancer. Whether distinct peripheral blood immune phenotypes are associated with response to neoad...

Hypoxia-mediated repression of pyruvate carboxylase drives immunosuppression

Metabolic plasticity mediates breast cancer survival, growth, and immune evasion during metastasis. However, how tumor cell metabolism is influenced by and feeds back to regulate breast cancer progression are ...

Lasofoxifene as a potential treatment for aromatase inhibitor-resistant ER-positive breast cancer

Breast cancers treated with aromatase inhibitors (AIs) can develop AI resistance, which is often driven by estrogen receptor-alpha (ERα/ ESR1 ) activating mutations, as well as by ER-independent signaling pathways....

NSUN2/YBX1 promotes the progression of breast cancer by enhancing HGH1 mRNA stability through m 5 C methylation

RNA m 5 C methylation has been extensively implicated in the occurrence and development of tumors. As the main methyltransferase, NSUN2 plays a crucial regulatory role across diverse tumor types. However, the preci...

Inflammation at diagnosis and cognitive impairment two years later in breast cancer patients from the Canto-Cog study

Inflammation could be related to cancer-related cognitive impairment (CRCI) and might be used as a predictive marker of long-term CRCI. We evaluated associations between inflammatory markers assessed at diagno...

Increased expression of REG3A promotes tumorigenic behavior in triple negative breast cancer cells

Identifying new targets in triple negative breast cancer (TNBC) remains critical. REG3A (regenerating islet-derived protein 3 A), a calcium-dependent lectin protein, was thoroughly investigated for its express...

Alpha-6 integrin deletion delays the formation of Brca1/p53-deficient basal-like breast tumors by restricting luminal progenitor cell expansion

The aberrant amplification of mammary luminal progenitors is at the origin of basal-like breast cancers associated with BRCA1 mutations. Integrins mediate cell–matrix adhesion and transmit mechanical and chemi...

Deep learning-based risk stratification of preoperative breast biopsies using digital whole slide images

Nottingham histological grade (NHG) is a well established prognostic factor in breast cancer histopathology but has a high inter-assessor variability with many tumours being classified as intermediate grade, N...

Unraveling malignant phenotype of peritumoral tissue: transcriptomic insights into early-stage breast cancer

Early-stage invasive ductal carcinoma displays high survival rates due to early detection and treatments. However, there is still a chance of relapse of 3–15% after treatment. The aim of this study was to unco...

Reproductive characteristics, menopausal status, race and ethnicity, and risk of breast cancer subtypes defined by ER, PR and HER2 status: the Breast Cancer Etiology in Minorities study

Associations between reproductive factors and risk of breast cancer differ by subtype defined by joint estrogen receptor (ER), progesterone receptor (PR), and HER2 expression status. Racial and ethnic differen...

EDI3 knockdown in ER-HER2+ breast cancer cells reduces tumor burden and improves survival in two mouse models of experimental metastasis

Despite progress understanding the mechanisms underlying tumor spread, metastasis remains a clinical challenge. We identified the choline-producing glycerophosphodiesterase, EDI3 and reported its association w...

Elevated expression of wildtype RhoC promotes ErbB2- and Pik3ca- induced mammary tumor formation

Copy number gains in genes coding for Rho activating exchange factors as well as losses affecting genes coding for RhoGAP proteins are common in breast cancer (BC), suggesting that elevated Rho signaling may p...

Optimising the diagnostic accuracy of First post-contrAst SubtracTed breast MRI (FAST MRI) through interpretation-training: a multicentre e-learning study, mapping the learning curve of NHS Breast Screening Programme (NHSBSP) mammogram readers using an enriched dataset

Abbreviated breast MRI (FAST MRI) is being introduced into clinical practice to screen women with mammographically dense breasts or with a personal history of breast cancer. This study aimed to optimise diagno...

Breast cancer patients enrolled in the Swiss mammography screening program “donna” demonstrate prolonged survival

We compared the survival rates of women with breast cancer (BC) detected within versus outside the mammography screening program (MSP) “donna”.

Correction: NSABP FB-10: a phase Ib/II trial evaluating ado-trastuzumab emtansine (T-DM1) with neratinib in women with metastatic HER2-positive breast cancer

The original article was published in Breast Cancer Research 2024 26 :69

Deep learning of mammogram images to reduce unnecessary breast biopsies: a preliminary study

Patients with a Breast Imaging Reporting and Data System (BI-RADS) 4 mammogram are currently recommended for biopsy. However, 70–80% of the biopsies are negative/benign. In this study, we developed a deep lear...

• Editorial Board
• Manuscript editing services
• Instructions for Editors
• Sign up for article alerts and news from this journal
• Collections
• Follow us on Twitter

Annual Journal Metrics

Citation Impact 2023 Journal Impact Factor: 6.1 5-year Journal Impact Factor: 7.1 Source Normalized Impact per Paper (SNIP): 1.865 SCImago Journal Rank (SJR): 2.578 Speed 2023 Submission to first editorial decision (median days): 14 Submission to acceptance (median days): 129 Usage 2023 Downloads: 2,432,781 Altmetric mentions: 1,561

• More about our metrics

Breast Cancer Research

ISSN: 1465-542X

• Submission enquiries: [email protected]

Your Account

Manage your account, subscriptions and profile.

MyKomen Health

ShareForCures

In Your Community  

In Your Community

View resources and events in your local community.

Change your location:

Susan G. Komen®

One moment can change everything.

What’s New in Breast Cancer

This section gives an overview of new breast cancer treatment breakthroughs and recent developments in research that are fueling new ways to assess risk, and prevent, detect, diagnose and treat breast cancer. Advances in breast cancer care are evaluated through a rigorous process that includes clinical trials and regulatory approvals before being considered standards of care and included in breast cancer care guidelines. Komen’s research team monitors the rapidly evolving breast cancer landscape, and here we will highlight new breast cancer treatment breakthroughs, innovations in technology or key advances that may be added or are new to guidelines. We will share these research advancements to empower patients with knowledge to help them make informed decisions with their doctors. 

Use these links to jump to the topics below.

• Emerging Areas in Metastatic Breast Cancer Treatment
• Clinical Trials

Treatments and Drugs

For patients, new treatments can mean more options and more hope. Researchers are working to develop new breast cancer treatment breakthroughs, such as more effective drugs that will specifically target breast cancer cells, minimize side effects and prevent breast cancer cells from coming back. While some treatments increase the effectiveness of existing drugs, others may offer new, innovative strategies for attacking tumor cells. 

As of August 2023, the following new treatments and drugs are currently in  clinical trials  and have not yet received FDA approval:  

• A new  antibody-drug conjugate  called datopotamab deruxtecan (Dato-DXd) is currently being evaluated in three Phase 3 clinical trials for advanced estrogen receptor-positive (ER+) [1] breast cancer, metastatic  triple negative [ 2 ] breast cancer and early triple negative [ 3 ] breast cancer (TNBC). Dato-DXd specifically targets a protein called TROP2, a biomarker that can be used to target cancer cells instead of healthy cells. Another TROP2-targeting therapy called  sacituzumab govitecan  has already been approved for TNBC and estrogen-receptor-positive breast cancer. Dato-DXd uses a different chemotherapy drug and delivery system compared to sacituzumab govitecan.  
• People with metastatic estrogen receptor-positive breast cancer that progresses after their initial treatment are prone to developing mutations in the estrogen receptor (ER) gene (ESR1)[ 4 ]. ESR1 mutations cause the ER protein to be constantly active, driving tumor growth even in the presence of drugs designed to stop the ER from working. Lasofoxifene is a new type of hormone therapy being studied that stops the ER even when it’s mutated. Recent findings from the phase 2 ELAINE 2 clinical trial showed lasofoxifene plus the CDK4/6 inhibitor abemeciclib resulted in participants’ cancer remaining stable for a median of 13 months. Based on these results, the new phase 3 ELAINE 3 trial will compare lasofoxifene with the current standard of care fulvestrant (hormone therapy) in combination with a CDK4/6 inhibitor. If successful, patients may have a new hormone therapy option.
• Pembrolizumab is currently the only immunotherapy drug available for people with TNBC . The phase 2 BEGONIA clinical trial recently reported promising results for an immunotherapy drug called durvalumab (Imfinizi) in combination with a TROP-2 targeting antibody-drug conjugate being studied called Dato-DXd [ 5 ]. In this clinical trial, 62 people with metastatic triple-negative breast cancer were treated with this novel drug combination, and their cancer remained stable for a median of 13.8 months. Based on these exciting results, there are now three phase 3 clinical trials testing this drug combination in different breast cancer settings (TROPION-Breast03, TROPION-Breast04, TROPION-Breast05). 

New and improved technologies may be able to increase the speed and accuracy of detecting, diagnosing or monitoring breast cancer for progression and response to treatment.  

• Doctors may use PET scans, or positron emission tomography, to scan for evidence that breast cancer has spread or metastasized. Once breast cancer has spread, the metastases may have evolved to a different type of breast cancer than the original tumor. These differences mean the metastases and the original tumor may not respond to the same treatments. A diagnostic imaging agent called Cerianna (fluoroestradiol F-18 or FES PET) allows doctors to use PET scans to learn if estrogen receptors are present in metastatic lesions. If a person has metastatic lesions that are estrogen receptor-positive, they may respond well to hormone therapy. This agent was recently incorporated in the National Comprehensive Cancer Network (NCCN) guidelines [ 6 ] as an option for some people with metastatic or recurrent estrogen receptor-positive breast cancer to consider [ 7 ]. 
• Dormant cancer cells are cells that did not die from a person’s initial treatment. These cells can “hibernate” undetected for unknown reasons until they begin to grow again. The bone is a common place for dormant breast cancer cells to hide and possibly grow. In the phase 2 CLEVER clinical trial [ 8 ], presented at the European Society of Clinical Oncology in October 2023 by Komen Scholar Dr. Angela DeMichele, researchers tested whether they could find dormant cancer cells in participants’ bone marrow and eliminate them. Study results showed researchers were able to find and remove dormant cancer cells from about 80% of the participants. While larger studies will be needed to confirm these results, the CLEVER study shows this promising approach may prevent breast cancer recurrence .
• Doctors are getting closer to identifying which patients with early HER2-positive breast cancer can safely avoid  chemotherapy  by using the HER2DX genomic test. HER2DX is the first test specifically designed to identify HER2-positive patients at high and low risk for  recurrence . For some people, being able to avoid chemotherapy without compromising long-term outcomes will lead to a better quality of life.  

Research can take decades to reach the bedside, but what discoveries are just around the corner for patients? Susan G. Komen shares all of this and more through Breast Cancer Breakthroughs, a virtual education series focusing on the new science and technology advancements that are poised to make a difference for patients in the near future. Sign up for Breast Cancer Breakthroughs to never miss an episode.

Kimberly’s Story: Finding Joy in the Midst of a Metastatic Breast Cancer Diagnosis

After Kimberly Reinika’s mother passed away in 2019 from ovarian cancer, she worried that it would ultimately take her life, too. “That was the cancer I was checking for,” she said.

Approaches to Care

With knowledge gained from clinical trials, researchers are seeking new ways to improve patient outcomes while using existing drugs. Some new breast cancer treatment breakthroughs are the result of combining certain drugs, finding which patients can skip certain elements of treatment or changing the order of their treatments to maximize effectiveness or minimize side effects.

• All people with early TNBC are currently treated with immunotherapy and chemotherapy prior to surgery , then they receive immunotherapy for up to 27 weeks after their surgery. A new phase 3 clinical trial called OptimICE-PCR led by Komen Scholar Dr. Sara Tolaney, will test a new approach. The study will determine whether simply observing patients is as effective as getting immunotherapy after surgery in preventing breast cancer from coming back, if their initial treatment successfully got rid of all the breast cancer [ 9 ]. While effective, immunotherapy comes with side effects and may not be needed in some treatment plans. This study will help identify who can safely de-escalate their immunotherapy treatment while maintaining good outcomes.
• Results from the phase 3 DESTINY-Breast06 clinical trial [ 10 ], presented at the American Society of Clinical Oncology (ASCO) meeting in June 2024, showed patients with metastatic estrogen receptor-positive (ER-positive), HER2-low and HER2-ultralow breast cancer had about a  5-month progression-free survival benefit with trastuzumab deruxtecan compared to chemotherapy . HER2-ultralow is a new designation and means that there is a very small amount of detectable HER2 in a tumor. Trastuzumab deruxtecan has already been shown to be effective in HER2-low metastatic breast cancer, but this is the first study showing that people with HER2-ultralow metastatic breast cancer may benefit as well. With these new findings, about 85% of patients with metastatic ER-positive breast cancer may become eligible for this treatment.
• New data from the Young Women’s Breast Cancer Study, led by Komen Chief Scientific Advisor Dr. Ann Partridge, found 73% of women with stage I-III breast cancer who attempted to get pregnant after completing their breast cancer treatment were successful. [ 11 ] This study, presented at the 2024 Annual ASCO meeting, is one of the most comprehensive studies attempting to answer this question to date. The results highlight the importance of making sure women have access to fertility preservation when they begin their breast cancer treatment.
• Komen Scholar Dr. Bryan Schneider conducted the phase 2 EAZ171 clinical trial, which tested whether certain gene mutations could predict the likelihood of developing a side effect from some types of chemotherapy called taxane-induced peripheral neuropathy (TIPN), which is more common among Black women. This side effect causes pain, numbness and tingling in the extremities and can also lead to the treatment being stopped. Komen grantee Dr. Tarah Ballinger presented the results of the EAZ171 study at the 2024 Annual ASCO meeting. [ 12 ] The study found that while the gene mutations were unable to predict the likelihood of developing TIPN, researchers did identify a chemotherapy regimen that resulted in fewer instances of TIPN. These results provide some of the best evidence available to date to personalize chemotherapy treatment for Black women .

Komen will be closely monitoring the results of these studies and more at upcoming scientific conferences and hopes to see more promising data regarding new ways to prevent, detect, diagnose and treat breast cancer.  

It Looks Promising: Uncovering New Possibilities in Breast Cancer Prevention

Is breast cancer prevention possible? Komen Scientific Advisory Board Member Dr. Kornelia Polyak is exploring a new strategy to identify and eliminate cell precursors from which tumors can grow.

Help discover cures to breast cancer, faster. New treatment breakthroughs for breast cancer come from researchers learning from people who have breast cancer, but our current data sources only represent a small portion of the breast cancer community. Help us discover the cures to breast cancer, faster, by joining ShareForCures.

What’s New in Breast Cancer References  

• https://classic.clinicaltrials.gov/ct2/show/NCT05104866  
• https://clinicaltrials.gov/study/NCT05374512  
• https://classic.clinicaltrials.gov/ct2/show/NCT05629585  
• https://breast-cancer-research.biomedcentral.com/articles/10.1186/s13058-021-01462-3
• https://oncologypro.esmo.org/meeting-resources/esmo-congress/datopotamab-deruxtecan-dato-dxd-durvalumab-d-as-first-line-1l-treatment-for-unresectable-locally-advanced-metastatic-triple-negative-breast
• https://www.gehealthcare.com/about/newsroom/press-releases/ge-healthcare-announces-fes-pet-imaging-recommendation-in-nccn-clinical-practice-guidelines-in-oncology-nccn-guidelines 
• https://www.nccn.org/patients/guidelines/content/PDF/breast-invasive-patient.pdf (page 16) 
• https://ascopost.com/news/october-2023/novel-strategies-for-eliminating-dormant-tumor-cells-in-breast-cancer-survivors/
• https://www.cancer.gov/research/participate/clinical-trials-search/v?id=NCI-2022-07859&r=1
• https://ascopost.com/news/june-2024/t-dxd-improves-progression-free-survival-in-patients-with-breast-cancer-previously-treated-with-endocrine-therapy/
• https://www.dana-farber.org/newsroom/news-releases/2024/most-young-women-treated-for-breast-cancer-can-have-children-study-shows#:~:text=Most%20young%20women%20treated%20for%20breast%20cancer%20can%20have%20children%2C%20study%20shows,-Posted%20date&text=New%20research%20by%20Dana%2DFarber,and%20want%20to%20have%20children.
• https://www.komen.org/blog/personalized-chemo/

TOOLS & RESOURCES

NEED HELP OR MORE INFORMATION?

1-877 GO KOMEN (1-877-465-6636)

Educational Resources

Komen Financial Assistance Program

Featured Topics

Featured series.

A series of random questions answered by Harvard experts.

Explore the Gazette

Read the latest.

High doses of Adderall may increase psychosis risk

Breakthrough technique may help speed understanding, treatment of MD, ALS

Soda is bad for you yet your body wants it. Why?

Estrogen a more powerful breast cancer culprit than we realized.

Getty Images

Ekaterina Pesheva

HMS Communications

Potential path to better testing in findings that identify hormone as ‘a catalyst and a cause’ in disease

In what may turn out to be a long-missing piece in the puzzle of breast cancer, Harvard Medical School researchers have identified the molecular sparkplug that ignites cases of the disease currently unexplained by the classical model of breast-cancer development.

A report on the team’s work is published May 17 in   Nature.

“We have identified what we believe is the original molecular trigger that initiates a cascade culminating in breast tumor development in a subset of breast cancers that are driven by estrogen,” said study senior investigator  Peter Park , professor of Biomedical Informatics in the Blavatnik Institute at HMS.

The researchers said as many as one-third of breast cancer cases may arise through the newly identified mechanism.

The study also shows that the sex hormone estrogen is the culprit behind this molecular dysfunction because it directly alters a cell’s DNA.

Most, though not all,  breast cancers are fueled by hormonal fluctuations . The prevailing view of estrogen’s role in breast cancer is that it acts as a catalyst for cancer growth because it stimulates the division and proliferation of breast tissue, a process that carries the risk for cancer-causing mutations. The new work, however, shows that estrogen causes mischief in a far more direct manner.

“Our work demonstrates that estrogen can directly induce genomic rearrangements that lead to cancer, so its role in breast cancer development is both that of a catalyst and a cause,” said study first author  Jake Lee , a former research fellow in the Park lab who is now a medical oncology fellow at Memorial Sloan Kettering Cancer Center.

Although the work has no immediate implications for therapy, it could inform the design of tests that can track treatment response and could help doctors detect the return of tumors in patients with a history of certain breast cancers.

Birth of a cancer cell

The human body is made up of hundreds of trillions of cells. Most of these cells are constantly dividing and replicating, a process that sustains the function of organs day after day, over a lifetime.

With each division, a cell makes a copy of its chromosomes — bundles of tightly compressed DNA — into a new cell. But this process sometimes goes awry, and DNA can break. In most cases, these DNA breaks get swiftly mended by the molecular machinery that guards the integrity of the genome. However, every now and then, the repair of broken DNA gets botched, causing chromosomes to get misplaced or scrambled inside a cell.

Many human cancers arise in this manner during cell division, when chromosomes get rearranged and awaken dormant cancer genes that can trigger tumor growth.

One such chromosomal scramble can occur when a chromosome breaks, and a second copy of the broken chromosome is made before the break gets fixed.

Then, in what ends up being a botched repair attempt, the broken end of one chromosome is fused to the broken end of its sister copy rather than to its original partner. The resulting new structure is a misshapen, malfunctioning chromosome.

During the next cell division, the misshapen chromosome is stretched between the two emerging daughter cells and the chromosome “bridge” breaks, leaving behind shattered fragments that contain cancer genes to multiply and get activated.

“Our work demonstrates that estrogen can directly induce genomic rearrangements that lead to cancer, so its role in breast cancer development is both that of a catalyst and a cause.” Jake Lee, medical oncology fellow at Memorial Sloan Kettering Cancer Center

Certain human cancers, including some breast cancers, arise when a cell’s chromosomes get rearranged in this way. This malfunction was first described in the 1930s by  Barbara McClintock , who went on to win the  Nobel Prize in physiology or medicine  in 1983.

Cancer experts can often identify this particular aberration in tumor samples by using genomic sequencing. Yet, a portion of breast cancer cases do not harbor this mutational pattern, raising the question: What is causing  these  tumors?

These were the “cold” cases that intrigued study authors Park and Lee. Looking for answers, they analyzed the genomes of 780 breast cancers obtained from patients diagnosed with the disease. They expected to find the classical chromosomal disarray in most of the tumor samples, but many of the tumor cells bore no trace of this classic molecular pattern.

Instead of the classic misshapen and improperly patched-up single chromosome, they saw that two chromosomes had fused, suspiciously near “hot spots” where cancer genes are located.

Just as in McClintock’s model, these rearranged chromosomes had formed bridges, except in this case, the bridge contained two different chromosomes. This distinctive pattern was present in one-third (244) of the tumors in their analysis.

Lee and Park realized they had stumbled upon a new mechanism by which a “disfigured” chromosome is generated and then fractured to fuel the mysterious breast cancer cases.

A new role for estrogen in breast cancer?

When the researchers zoomed onto the hot spots of cancer-gene activation, they noticed that these areas were curiously close to estrogen-binding areas on the DNA.

Estrogen receptors are known to bind to certain regions of the genome when a cell is stimulated by estrogen. The researchers found that these estrogen-binding sites were frequently next to the zones where the early DNA breaks took place.

This offered a strong clue that estrogen might be somehow involved in the genomic reshuffling that gave rise to cancer-gene activation.

Lee and Park followed up on that clue by conducting experiments with breast cancer cells in a dish. They exposed the cells to estrogen and then used CRISPR gene editing to make cuts to the cells’ DNA.

As the cells mended their broken DNA, they initiated a repair chain that resulted in the same genomic rearrangement Lee and Park had discovered in their genomic analyses.

Estrogen is already known to fuel breast cancer growth by promoting the proliferation of breast cells. However, the new observations cast this hormone in a different light.

They show estrogen is a more central character in cancer genesis because it directly alters how cells repair their DNA.

The findings suggest that estrogen-suppressing drugs such as tamoxifen — often given to patients with breast cancer to prevent disease recurrence — work in a more direct manner than simply reducing breast cell proliferation.

“In light of our results, we propose that these drugs may also prevent estrogen from initiating cancer-causing genomic rearrangements in the cells, in addition to suppressing mammary cell proliferation,” Lee said.

The study could lead to improved breast cancer testing. For instance, detecting the genomic fingerprint of the chromosome rearrangement could alert oncologists that a patient’s disease is coming back, Lee said.

A similar approach to track disease relapse and treatment response is already widely used in cancers that harbor critical chromosomal translocations, including certain types of leukemias.

More broadly, the work underscores the value of DNA sequencing and careful data analysis in deepening the biology of cancer development, the researchers said.

“It all started with a single observation. We noticed that the complex pattern of mutations that we see in genome sequencing data cannot be explained by the textbook model,” Park said. “But now that we’ve put the jigsaw puzzle together, the patterns all make sense in light of the new model. This is immensely gratifying.” Additional authors included Youngsook Lucy Jung, Taek-Chin Cheong, Jose Espejo Valle-Inclan, Chong Chu, Doga C. Gulhan,Viktor Ljungstrom, Hu Jin, Vinayak Viswanadham, Emma Watson, Isidro Cortes-Ciriano, Stephen Elledge, Roberto Chiarle, and David Pellman.

This work was funded by grants from Ludwig Center at Harvard, Cancer Grand Challenges, Cancer Research UK, and the Mark Foundation for Cancer Research, National Institutes of Health grant 1R01-CA222598, and with additional support from the Office of Faculty Development/CTREC/BTREC Career Development Fellowship.

Share this article

You might like.

Among those who take prescription amphetamines, 81% of cases of psychosis or mania could have been eliminated if they were not on the high dose, findings suggest

3D organoid system can generate millions of adult skeletal-muscle stem cells

Psychiatrist explains why we crave junk food — and how to cultivate healthier eating habits

Billions worldwide deficient in essential micronutrients

Inadequate levels carry risk of adverse pregnancy outcomes, blindness

You want to be boss. You probably won’t be good at it.

Study pinpoints two measures that predict effective managers

Weight-loss drug linked to fewer COVID deaths

Large-scale study finds Wegovy reduces risk of heart attack, stroke

Breast Cancer—Patient Version

Breast cancer is the second most common cancer in women after skin cancer. Mammograms can detect breast cancer early, possibly before it has spread. Explore the links on this page to learn more about breast cancer prevention, screening, treatment, statistics, research, clinical trials, and more.

PDQ Treatment Information for Patients

• Breast Cancer Treatment
• Male Breast Cancer Treatment
• Childhood Breast Cancer Treatment
• Breast Cancer During Pregnancy

More information

• Late Effects of Treatment for Childhood Cancer (PDQ®)
• Inflammatory Breast Cancer
• Paget Disease of the Breast
• Surgery Choices for Women with DCIS or Breast Cancer
• Sentinel Lymph Node Biopsy
• Hormone Therapy for Breast Cancer
• Breast Reconstruction After Mastectomy
• Drugs Approved for Breast Cancer
• Clinical Trials to Treat Breast Cancer

Causes & Prevention

Pdq prevention information for patients.

• Breast Cancer Prevention
• Breast Cancer Risk in American Women
• BRCA Gene Changes: Cancer Risk and Genetic Testing
• Surgery to Reduce the Risk of Breast Cancer
• Reproductive History and Cancer Risk
• Clinical Trials to Prevent Breast Cancer

PDQ Screening Information for Patients

• Breast Cancer Screening
• Breast Health: Follow-up after an Abnormal Mammogram
• Dense Breasts: Answers to Commonly Asked Questions
• Find an FDA Certified Mammogram Facility
• Clinical Trials to Screen for Breast Cancer

Coping with Cancer

The information in this section is meant to help you cope with the many issues and concerns that occur when you have cancer.

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

• View all journals
• Explore content
• About the journal
• Publish with us
• Sign up for alerts
• Review Article
• Open access
• Published: 05 September 2024

BRCA genetic testing and counseling in breast cancer: how do we meet our patients’ needs?

• Peter Dubsky   ORCID: orcid.org/0000-0002-9566-0209 1 , 2 ,
• Christian Jackisch   ORCID: orcid.org/0000-0001-8537-3743 3 ,
• Seock-Ah Im 4 ,
• Kelly K. Hunt   ORCID: orcid.org/0000-0001-9156-8723 5 ,
• Chien-Feng Li 6 ,
• Sheila Unger 7 &
• Shani Paluch-Shimon 8  

npj Breast Cancer volume  10 , Article number:  77 ( 2024 ) Cite this article

191 Accesses

Metrics details

• Breast cancer
• Genetic testing

BRCA1 and BRCA2 are tumor suppressor genes that have been linked to inherited susceptibility of breast cancer. Germline BRCA1/2 pathogenic or likely pathogenic variants (gBRCAm) are clinically relevant for treatment selection in breast cancer because they confer sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. BRCA1/2 mutation status may also impact decisions on other systemic therapies, risk-reducing measures, and choice of surgery. Consequently, demand for gBRCAm testing has increased. Several barriers to genetic testing exist, including limited access to testing facilities, trained counselors, and psychosocial support, as well as the financial burden of testing. Here, we describe current implications of gBRCAm testing for patients with breast cancer, summarize current approaches to gBRCAm testing, provide potential solutions to support wider adoption of mainstreaming testing practices, and consider future directions of testing.

Similar content being viewed by others

BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing

Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach

Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre

Introduction.

BRCA1 and BRCA2 were identified in the 1990s as genes linked to inherited susceptibility to breast cancer 1 , 2 . As tumor suppressor genes, they encode proteins that are crucial for the repair of complex DNA damage (such as double-strand breaks) by homologous recombination 3 . Germline mutations (i.e., pathogenic or likely pathogenic variants) in BRCA1/2 (gBRCAm) affecting this vital DNA repair pathway predispose individuals to developing breast cancer by impairing homologous recombination and causing genomic instability 3 .

The advent of poly(ADP-ribose) polymerase (PARP) inhibitors has revolutionized the therapeutic landscape for cancers associated with gBRCAm, including breast, ovarian, prostate, and pancreatic cancer 4 . For breast cancer, the focus of this article, PARP inhibitors are approved for early and advanced disease harboring gBRCAm based on the results of major clinical trials: for olaparib, OlympiAD and OlympiA; and for talazoparib, EMBRACA 5 , 6 , 7 . Given the opportunity for therapeutic targeting of gBRCAm, timely determination of gBRCAm status is critical to guide treatment decisions, and demand for gBRCAm testing has rapidly increased in recent years 8 . High-throughput sequencing technologies have made analysis of cancer-susceptibility genes rapid and affordable 8 . However, there is concern that the demand for gBRCAm testing may overwhelm current genetic services 9 . Furthermore, barriers at the individual-, provider-, systems-, and policy-levels exist, which restrict access to genetic testing resources and genetic counseling 10 . Innovative methods of mainstreaming genetic services may help overcome some of these challenges. Education and resources to support appropriate counseling for gBRCAm testing, as well as information on the implications of testing, and models for genetic test consent, are urgently needed to support the evolving clinical space.

In this review, we describe the implications of gBRCAm testing for potential surgical approaches and treatment in patients with breast cancer, summarize the various approaches to gBRCAm testing (including traditional and alternative models), provide practical resources to support mainstreaming of the gBRCAm testing pathway, and consider the relevance of genetic testing in breast cancer in the future.

Biology of BRCAm in breast cancer

Hereditary breast and ovarian cancer (HBOC) syndrome accounts for approximately 10% of breast cancer cases 11 . BRCA1 and BRCA2 are the main genes involved in genetic susceptibility to breast cancer 12 . HBOC is associated with early-onset breast cancer, and an increased risk of other cancers, including ovarian, pancreatic, fallopian tube, and prostate 3 . The cumulative lifetime risk of developing breast cancer by age 80 years is high at 72 and 69% for BRCA1 and BRCA2 mutation carriers, respectively 13 . Female gBRCAm carriers also have a 44% ( BRCA1 ) and 17% ( BRCA2 ) cumulative risk of developing ovarian cancer 13 .

Patients harboring gBRCAm are more likely to develop breast cancer at a younger age, with approximately 12% of the cases arising in women ≤40 years of age attributed to pathogenic or likely pathogenic variants in BRCA1 or BRCA2 14 . These breast cancers have distinct biological features: among individuals with g BRCA1 m, breast cancers are typically hormone receptor-negative (~76%) and human epidermal growth factor receptor 2 (HER2)-negative (94%), while breast cancers developing in individuals with g BRCA2 m are more frequently hormone receptor-positive (83%) and HER2-negative (89%) 14 .

Goals of gBRCAm testing in breast cancer

Available evidence regarding surgical and systemic treatment outcomes in patients with gBRCAm breast cancer highlights the importance of determining gBRCAm status prior to finalizing treatment decisions. Clinical practice guidelines further reinforce the role of gBRCAm testing in the context of treatment decision-making, beyond its importance for risk management and cascade testing 11 , 15 . The presence of gBRCAm may impact decisions about risk-reducing measures, choice of surgery, and systemic therapies (Fig. 1 ).

The pathway from gBRCAm testing to decisions relating to risk-reducing measures, choice of surgery, and systemic therapies.

Surgical decision-making

Breast-conserving surgery (bcs).

BCS aims to remove the breast tumor, with clear margins, in a manner that is cosmetically acceptable to the patient 16 . Although BCS is recommended for most patients with early-stage operable breast cancer 15 , the best approach for patients harboring gBRCAm is unclear. Practice guidelines recommend that gBRCAm status should not preclude the use of BCS as a surgical option for breast cancer 17 . However, these patients should be counseled regarding the risk of ipsilateral breast cancer recurrence, new primary breast cancer in the treated breast, and contralateral breast cancer, noting that intensified surveillance is a reasonable treatment strategy for breast cancer 11 , 17 .

Contralateral risk-reducing mastectomy (CRRM)

Some women with a confirmed gBRCAm opt for CRRM over BCS, which is removal of the unaffected breast to reduce the risk of contralateral breast cancer, with or without the option of breast reconstruction 18 . A meta-analysis of outcomes in patients with gBRCAm found that CRRM reduced the relative risk of contralateral breast cancer by 93% versus surveillance and significantly increased overall survival (OS) versus surveillance 19 . It should be noted that benefit from CRRM was not maintained in all studies after adjusting for confounding factors 20 , and the absolute survival benefits of mastectomy (both ipsilateral and contralateral) are heavily dependent on patient prognosis; patients with aggressive types of disease, and especially those with little response from neoadjuvant systemic therapy regimens, are at higher risk from distant metastasis than local recurrence or a new primary in the contralateral breast.

Risk-reducing salpingo-oophorectomy (RRSO)

While RRSO is indicated in gBRCAm carriers, its effect on breast cancer risk reduction is not clear 21 . A recent systematic review and meta-analysis of 21,022 patients demonstrated a 37 and 49% reduction in the risk of developing breast cancer following RRSO compared with no RRSO in patients with g BRCA1 m and g BRCA2 m, respectively, with the effect particularly pronounced in younger women with gBRCAm 22 . A retrospective analysis in 676 women harboring gBRCAm showed that oophorectomy decreased mortality in patients with g BRCA1 m and decreased breast cancer-specific mortality in patients with estrogen receptor (ER)-negative gBRCAm breast cancer 23 . Other studies have failed to demonstrate a benefit of RRSO on breast cancer risk 24 , 25 .

Systemic treatment decision-making

Chemotherapy.

gBRCAm advanced breast cancers are sensitive to platinum-based and non-platinum-based chemotherapy regimens 26 , 27 , 28 , 29 . For early breast cancer, patients with gBRCAm are treated with anthracycline/taxane-based regimens, similar to those individuals with sporadic breast cancers 30 . The clinical value of adding platinum therapy to neoadjuvant chemotherapy for patients with gBRCAm tumors is inconclusive. The phase 3 BrighTNess trial concluded that the addition of carboplatin, with or without veliparib, to neoadjuvant chemotherapy significantly improved pathological complete response (pCR) rates among patients with triple-negative breast cancer (TNBC), regardless of gBRCA status 31 . Furthermore, a meta-analysis of neoadjuvant regimens in patients with gBRCAm TNBC reported improved pCR rates when platin derivatives were combined with anthracyclines and taxanes, although it was unclear if this combination offered a clinically meaningful benefit over standard chemotherapy alone 32 . However, GeparSixto and INFORM did not show a benefit to adding carboplatin or cisplatin, respectively, to neoadjuvant chemotherapy for patients with gBRCAm early breast cancer 26 , 33 . Exploratory translational analyses of BrighTNess sought to elucidate the differences in benefit observed for patients with breast cancer and gBRCAm 34 . Higher PAM50 proliferation score, CIN70 score, and GeparSixto immune signature were associated with higher odds of pCR for both patients with and without gBRCAm, and thus have been proposed as potentially useful biomarkers for determining addition of carboplatin to neoadjuvant chemotherapy 34 , but have yet to be validated for clinical practice.

PARP inhibition

PARP inhibitors block the enzyme that has a vital role in repairing DNA single-strand breaks. They exploit the double-strand break repair deficiency of BRCAm cells, which accumulate unrepaired, toxic DNA double-strand breaks, thus resulting in tumor cell death (i.e., synthetic lethality). Olaparib is licensed for the adjuvant treatment of gBRCAm, HER2-negative high-risk early breast cancer, and for gBRCAm (tumor BRCAm in Japan), HER2-negative locally advanced (EU) or metastatic (EU and US) breast cancer. Talazoparib is approved for the treatment of gBRCAm, HER2-negative locally advanced or metastatic breast cancer in the US, Europe, and several other countries worldwide.

For advanced gBRCAm HER2-negative breast cancer, PARP inhibitors were approved based on the results of the OlympiAD (olaparib) and EMBRACA (talazoparib) clinical trials 5 , 6 , 35 , 36 . In OlympiAD, olaparib had significantly improved median progression-free survival (PFS) versus standard chemotherapy treatment of physician’s choice (7.0 months vs 4.2 months; HR 0.58 [95% CI 0.43–0.80]; P  < 0.001) in patients with gBRCAm HER2-negative metastatic breast cancer 5 . Median OS was 19.3 months for olaparib and 17.1 months for standard chemotherapy (HR 0.89 [95% CI 0.67–1.18]) 35 . In subanalyses, a potential OS benefit with first-line olaparib versus chemotherapy was observed (median 22.6 vs 14.7 months; HR 0.55 [95% CI 0.33–0.95]), with 3-year survival at 40.8% with olaparib and 12.8% with treatment of physician’s choice, which, notably, did not include a platinum regimen 5 , 35 . In EMBRACA, talazoparib significantly improved median PFS versus standard chemotherapy (8.6 vs 5.6 months; HR 0.54 [95% CI 0.41–0.71]; P  < 0.001) in patients with gBRCAm advanced breast cancer 6 , with no observed improvements in OS 37 .

For early breast cancer, olaparib was approved based on the results of the phase 3 OlympiA study in patients with high-risk early gBRCAm HER2-negative breast cancer who had completed local treatment and neoadjuvant or adjuvant chemotherapy 7 , 38 . In the second prespecified analysis of OlympiA, adjuvant olaparib was associated with significantly improved OS versus placebo, with a 32% reduced risk of death (HR 0.68; 98.5% CI 0.47–0.97; P  = 0.009) 7 . Significantly improved invasive disease-free survival (IDFS; HR 0.63; 95% CI 0.50–0.78) was also shown, consistent with the significantly improved IDFS reported at the first prespecified analysis (HR 0.58; 99.5% CI 0.41–0.82; P  = 0.001) 7 .

These positive results in the adjuvant setting raised the question of whether PARP inhibitors may also have a place for neoadjuvant treatment of HER2-negative early breast cancer; however, trials have reported mixed results. In the BrighTNess trial, described above, addition of veliparib did not add benefit over neoadjuvant carboplatin/paclitaxel alone 31 . The phase 2 GeparOLA study comparing neoadjuvant paclitaxel plus olaparib to paclitaxel/carboplatinum in patients with HER2-negative breast cancer and homologous recombinant deficiency did not meet its primary endpoint (exclusion of a pCR rate of ≤55%) 39 , but did report a numerically improved pCR rate with paclitaxel/olaparib followed by epirubicin/cyclophosphamide (55.1%) versus paclitaxel/carboplatinum (48.6%) followed by epirubicin/cyclophosphamide, and a more favorable tolerability profile for paclitaxel/olaparib 39 . In the single-arm neoTALA trial, patients with gBRCAm, early-stage TNBC were treated with talazoparib followed by definitive surgery 40 . Although neoadjuvant talazoparib was active, the pCR rates did not meet the prespecified threshold of efficacy 40 . Other neoadjuvant trials are ongoing to enhance our understanding of the potential use of PARP inhibitors in early breast cancer. Of potential interest is the opportunity to evaluate alternative PARP inhibitor combinations (e.g., with immunotherapy), and tailor therapy according to the patient. For example, in the ongoing OlympiaN trial (NCT05498155) patients with deleterious/suspected deleterious BRCAm and operable, early-stage, HER2-negative, ER-negative/ER-low breast cancer are assigned olaparib (lower-risk cohort) or olaparib plus durvalumab (higher-risk cohort), and assessed for pCR 41 .

PARP inhibitors are an important treatment strategy for gBRCAm breast cancer and rely on timely access to genetic testing to guide the most appropriate treatment selection, particularly in the early breast cancer setting.

Cyclin-dependent kinase 4/6 (CDK4/6) inhibitors

A CDK4/6 inhibitor in combination with endocrine therapy is a recommended option for first-line treatment for certain patients with hormone receptor-positive/HER2-negative advanced or metastatic breast cancer 15 , 42 . Use of CDK4/6 inhibitors has also extended into earlier lines of treatment, with abemaciclib plus endocrine therapy a treatment option in the adjuvant setting for patients with hormone receptor-positive/HER2-negative, high-risk breast cancer 15 , and positive results having been reported for ribociclib (NATALEE) 43 . While the optimal sequence is not known, recent guideline updates note that when patients are eligible for both adjuvant olaparib and abemaciclib then olaparib should be given first 30 , 44 . Real-world evidence has suggested that patients with hormone receptor-positive advanced breast cancer and gBRCAm may have inferior outcomes with CDK4/6 inhibition or endocrine therapy versus those without gBRCAm 45 , 46 , 47 , 48 , 49 . This emerging finding highlights the potential importance of early detection of gBRCAm in patients with hormone receptor-positive breast cancer ahead of treatment selection, especially in light of recent CDK4/6 inhibitor approval in the early breast cancer setting.

Immunotherapy

There is limited evidence on the effectiveness of immunotherapy in patients with gBRCAm breast cancer. A recent substudy from the phase 3 IMpassion130 trial of the anti-programmed death-ligand 1 (PD-L1) antibody atezolizumab showed that, in combination with nab-paclitaxel, patients with PD-L1-positive advanced TNBC had an OS and PFS benefit regardless of BRCA1/2 mutation status (germline or somatic) 50 . The efficacy of neoadjuvant PARP inhibition in combination with immunotherapy is under investigation; for example, olaparib in combination with durvalumab is being investigated in the aforementioned OlympiaN study 41 .

Screening and counseling for family members

The burden of gBRCAm in breast cancer extends beyond the affected individual, with other family members facing decisions regarding gBRCAm testing, as well as considerations of family planning. In case of a familial association, genetic testing is recommended by the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines ® ) for unaffected family members 21 . If a pre-symptomatic individual is identified as a carrier of gBRCAm, intensified surveillance for breast cancer is recommended, which differs per guideline but may include regular magnetic resonance imaging (MRI), ultrasound, mammography, and/or clinical breast exam, with guidance provided based on age 11 , 21 . For patients harboring gBRCAm with a diagnosis of breast cancer who have not undergone bilateral mastectomy, National Comprehensive Cancer Network ® (NCCN ® ) recommends that breast MRI and mammography should continue as recommended, based on age 21 .

For individuals undergoing pre-symptomatic testing (known gBRCAm in a family member), it is recommended that pre-test counseling topics include options for screening and early detection, the benefits and disadvantages of risk-reducing surgery (including the extent of cancer risk reduction, risks associated with surgery, management of menopausal symptoms with RRSO, psychosocial and quality-of-life impacts, and life expectancy), the benefits and limitations of reconstructive surgery and reproductive options, and the psychological implications of pre-symptomatic diagnosis 11 , 21 . Consideration is required with regard to reproductive concerns and the psychosocial impact of undergoing RRSO in gBRCAm carriers 21 .

gBRCAm counseling and testing in clinical practice

Implementation of guideline recommendations for gbrcam counseling and testing.

Practice guidelines for genetic counseling and gBRCAm testing are predominantly based on personal and family history of breast, ovarian, pancreatic, and/or prostate cancer; young age at diagnosis; male breast cancer; and multiple tumors (breast and ovarian) in the same patient 21 . More than 32 guidelines for gBRCAm testing relevant to breast cancer exist worldwide 11 , 21 , 51 , 52 , and the recommendations are often inconsistent. Many guidelines do not include recommendations for genetic counseling, or only provide counseling recommendations for patients who have been identified as carriers of gBRCAm 51 . Some guidelines recommend gBRCAm testing after genetic counseling and personalized risk assessment, and/or if the result is likely to influence the individual’s choice of primary treatment 51 . Some guidelines recommend testing based upon percentage risk of harboring a BRCA mutation, but there is a lack of consensus on the threshold used to determine whether an individual is eligible for genetics clinic referral/testing (10% vs 5%) 21 , 53 , and some guidelines propose testing all patients under certain circumstances (e.g., with ER-positive advanced breast cancer and resistance to endocrine therapy), considering that PARP inhibitors have a greater risk-benefit ratio than chemotherapy 54 . There are limited treatment recommendations and algorithms for women with gBRCAm-associated advanced breast cancer 51 . Greater consensus and cohesion of guidelines would be useful for patients and the medical community covering the topics highlighted in Fig. 2 .

gBRCAm counseling and testing in clinical practice.

Disparities in gBRCAm testing in clinical practice

There has been a systemic underuse of gBRCAm testing over the past two decades, which has led to inappropriate and inconsistent testing and, consequently, missed opportunities for cancer prevention and management 55 . Historically, NCCN criteria have been seen to be the least restrictive of the models, identifying a larger percentage of carriers compared with other models. However, the complex nature of the NCCN criteria render them difficult to implement in real-world clinical practice 51 , with low adherence rates reported 56 . Expansion of NCCN criteria to include all women diagnosed at ≤65 years of age was shown to improve sensitivity of the selection criteria, without requiring testing of all women with breast cancer 57 .

Although recent data from some centers and countries suggest widespread routine gBRCAm testing 58 , a number of reports highlight the need for broader eligibility criteria for gBRCAm testing to ensure that more individuals can have access 55 , 57 , 59 , 60 . Notably, patient eligibility for gBRCAm testing has been shown to vary depending on different testing criteria and recommendations, ranging from over 98% using recent guidelines published by the American Society of Breast Surgeons (ASBrS) to only around 30% eligibility using the Breast and Ovarian Analysis of Disease Incidence and Cancer Estimation Algorithm (BOADICEA) criteria 55 , 57 (Fig. 3 ). Simplified, cost-effective eligibility criteria for gBRCAm testing, based on individual rather than family history criteria, have been proposed by the Mainstreaming Cancer Genetics (MCG) group. The five eligibility criteria include: (1) ovarian cancer diagnosis, (2) breast cancer diagnosed ≤45 years of age, (3) two primary breast cancers, both diagnosed ≤60 years of age, (4) TNBC diagnosis, and (5) male breast cancer diagnosis 55 . In an analysis of different guidelines, using these criteria would have tested 92% of people and detected 100% of gBRCAm carriers 55 . An additional sixth criteria (breast cancer, plus a parent, sibling, or child meeting any of the other criteria) further improved the eligibility rate to 97% (MCGplus) 55 , while expansion of NCCN criteria (v1.2020) to include individuals diagnosed at ≤65 years of age, as recommended by ASBrS, increased testing eligibility to include over 98% of BRCAm carriers 57 (Fig. 3 ). Both the MCG and MCGplus criteria were deemed cost-effective, with cost-effective ratios of $1330 and $1225 per discounted quality-adjusted life year for the MCG and MCGplus criteria, respectively 55 . Additional studies have sought to investigate the cost-effectiveness of BRCA testing in all patients with breast cancer, with several studies conducted in countries such as Australia, China, Norway, Malaysia, the UK, and the US finding this to be a potentially cost-effective strategy 61 , 62 , 63 , 64 , 65 .

The graph shows estimates of patient eligibility for BRCA testing among BRCAm carriers. Data to the left of the dashed line is reproduced from a report in 2019 by the MCG group assessing rates of testing eligibility by different criteria 55 , while the bar to the right of the dashed line illustrates the result of an analysis by ASBrS published in 2020, examining the effect of including all individuals meeting NCCN criteria v1.2020 plus those diagnosed with breast cancer at ≤65 years 57 . ASBrS, American Society of Breast Surgeons; BOADICEA, Breast and Ovarian Analysis of Disease Incidence and Cancer Estimation Algorithm (≥10 refers to a 10% or greater probability that a BRCA1 or BRCA2 mutation is present); MCG, Mainstreaming Cancer Genetics; MSS, Manchester Scoring System; NCCN, National Comprehensive Cancer Network ® (NCCN ® ).

Traditional genetic counseling and testing pathway

The traditional pathway of genetic testing involves individualized patient referral to the genetics department for the management of pre-test genetic counseling, consenting, sample acquisition, and return of results (Fig. 4 ). Pre-test counseling, and the process of informed consent, focuses on giving patients sufficient information about the test, its limitations, and the consequences (including psychological) of a positive result, to enable an informed decision as to whether or not to proceed 9 . Patients who test positive for gBRCAm receive post-test support from a geneticist/genetic counselor/expert 9 , 66 .

MDT, multidisciplinary team.

Genetic professionals offering counseling include both medical genetic physicians (professionals with advanced training, such as an MD with a specialization in genetic medicine) and genetic counselors (professionals with a specialized Masters degree in genetic counseling) 67 , 68 . Genetic counseling by a trained genetics clinician has been shown to improve patient knowledge, understanding, and satisfaction among patients 69 , and is recommended in multiple guidelines 11 , 21 . While advantages of this type of care are clear, disadvantages include that it can be time-consuming, and a limited number of professionals are appropriately trained. When rapid access to test results is required to inform treatment decisions in a time-sensitive manner, especially for those undergoing upfront surgery, it may not be possible to maintain this workflow, and innovative alternatives may be required 70 .

Although genetic counseling is recommended, a dearth of adequately trained professionals in this field may limit access 71 , with some countries imposing legal requirements for practicing genetic counseling 72 . Where possible, non-geneticist physicians might feel the need to counsel and test patients themselves without support, despite increasing demands on their time and shorter appointment times 69 , 71 . Across Canada and the US, there are approximately 1.5 genetic counselors per 100,000 individuals, and it is estimated that double the workforce will be needed to meet future demands 73 . There has been an increase in genetic counselors reporting the use of multiple types of delivery models, including telephone and telegenetics, with an aim of improving access and efficiency of genetic counseling; however, barriers remain that can hinder implementation of these models 74 . In a large, US population-based study, only 62% of high-risk patients with newly diagnosed breast cancer who were tested had a genetic counselor session 75 . Furthermore, 66% of all patients, and 81% of high-risk patients, wanted testing but only 29 and 53% received it, respectively 75 . The most common reason for high-risk patients not being tested was “my doctor didn’t recommend it” 75 . Wait times to see genetic specialists can also be substantial. In the UK, the Nottingham University Hospitals National Health Service (NHS) Trust reports wait times of 12–14 weeks for an initial appointment and 4–6 months to receive results 76 . This highlights the need for alternative models of counseling and consenting of patients to ensure all eligible patients receive testing in a timely manner.

Systemic and societal barriers can impede equitable access to the benefits of genetic testing. Suboptimal testing rates among individuals of low socioeconomic status have been largely attributed to perceived/actual financial costs of genetic testing, with patients and healthcare providers often unclear as to whether genetic counseling services and follow-up care are covered by health insurance 10 , 77 . Strategies to improve testing rates in this patient demographic include the integration of genetic counselors into primary care settings to reduce travel time and costs to the patient 78 , and lobbying for expanded health insurance coverage for genetic counseling and testing services 79 .

Reports from US ovarian and breast cancer centers have consistently found racial/ethnic disparity in access to genetic testing, with referral rates being higher for non-Hispanic White women than for women of other races 80 , 81 , 82 . Lower awareness of the genetic basis of risk, incomplete family history, and mistrust of medical confidentiality may contribute to racial/ethnic disparities in referrals for genetic testing 79 , 83 . In addition, the detection of pathogenic variants may be decreased, and variants of uncertain significance increased, in non-White individuals 84 , 85 , 86 , as genomic reference databases provide poor genetic representation of non-White populations 87 , 88 . Whilst initiatives have been established to address gaps in the diversity of genomic data 89 , additional strategies are required to increase genetic testing rates among non-White populations. These include the development of culturally and linguistically tailored educational material, extended appointment availability, increased training of primary care-based specialists to mitigate unconscious or implicit biases, and a drive to recruit and train more healthcare providers from minority backgrounds 79 , 80 , 90 .

Mainstream genetic counseling and testing pathways

In mainstream genetic testing pathways, medical oncology teams are responsible for pre-test genetic counseling, obtaining consent, scheduling the genetic test, and using the results to guide treatment decisions (Fig. 5 ) 55 , 91 , 92 . Implementation of mainstream models has enabled more efficient testing of patients with ovarian cancer and has significantly increased the proportion of patients being offered genetic testing 93 , 94 , 95 .

VUS, variant of uncertain significance.

Mainstream genetic testing models for patients with breast cancer have also proven effective, with high pathogenic variant detection rates and a reduced burden on genetic services observed 55 , 66 , 76 . A Canadian study reported a significant decrease in wait time from referral to the return of genetic test results using an oncology clinic-based model compared with a traditional model in patients with breast or ovarian cancer (403 vs 191 days; P  < 0.001) 96 . Other studies support that oncologist-led mainstreaming results in increased testing uptake and shorter test-turnaround times 97 , 98 . A systematic review of 15 studies in patients with breast, ovarian, endometrial, or prostate cancer showed that turnaround times with the mainstream approach are lower than those with the traditional pathway, with results typically obtained 3–6 weeks after discussing and ordering the genetic test 92 . Another study in patients with breast cancer measured an 85% reduction in time to test result using the mainstream model compared with the traditional model (4 vs 25 weeks) 55 . A mainstreaming program in Australia had successful uptake with a notable gBRCAm detection rate and a reduced burden on the center, enabling reallocation of resources to streamline the genetic testing process 66 . Mainstream models also reduce genetic consultation requirements versus traditional models 55 , 66 .

Perspectives of the multidisciplinary team

Oncogenetic partnership models, in which clinical teams order genetic testing in collaboration with geneticists and implement counseling at both an individual and group level, have been shown to improve access to counseling and reduce turnaround times for genetic testing 99 . However, the feasibility of implementing new testing strategies may vary by region.

As part of the MCG program in breast cancer in the UK and Malaysia, 100% of team members (12 oncologists, 8 surgeons, and 3 nurse specialists) reported feeling confident to approve patients for genetic testing, and believed that the process worked well 55 . Similar experiences have been reported among ovarian cancer teams 9 , 91 . However, another study surveying oncologists, clinical geneticists, and surgeons found that while oncologists and clinical geneticists were mainly positive about the introduction of mainstream approaches, surgeons were not keen to implement mainstream services in their breast clinic, feeling that they did not have the expertise, time, or capacity to undertake the extra responsibility, and that genetic testing did not have much relevance for their treatment decision-making 100 .

Nurses play an integral role within the oncology team, with clinical nurse specialists often being the key point of contact for patients throughout the cancer pathway and thus ideally placed to deliver information on gBRCAm testing. A single-center UK study assessing the use of clinical nurse specialists in consenting patients with ovarian cancer for gBRCAm testing showed that there was no difference in patient-reported satisfaction compared with oncologist-led consenting, and nurses felt confident in counseling, consenting, and returning results 9 . A specialist, nurse-led breast cancer MCG service established at the Nottingham Breast Institute, UK, has reduced wait time from the date of testing to the date of results to 36 days compared with an historical wait time of 4–6 months, while also delivering continuity of care for patients, releasing oncologists’ time, and allowing oncologists and patients to consider treatment options at an earlier time point 76 . The potential for nurses to play a role in decision coaching in healthy individuals who are carriers of gBRCAm is being explored, with preliminary results suggesting the approach is feasible 101 , 102 . We provide an educational guide for nurses to outline the role that nurses can play in the gBRCA testing pathway and support conversations around nurse-obtained consent ( supplementary information : Nurse consenting guide for germline BRCA testing ).

The patients’ perspective

Genetic testing in mainstream oncology units is widely accepted by patients 55 , 66 , 91 , 103 , 104 , 105 , 106 . In the MCG breast cancer program, 96% of patients were happy that genetic testing was performed by their cancer team 55 . Some patients reported a preference for their medical oncologist or their oncology nurse to deliver pre-test counseling, because medical oncologists could use the information gained through genetic testing for treatment decisions, and because nurses are more familiar with, and better understand, the individual patient experience 105 .

Educational needs for non-genetic specialists

Ensuring appropriate training on an ongoing basis for those involved in consenting and arranging genetic testing is paramount to the success of mainstream gBRCAm testing 66 . An early study evaluating patient experiences of gBRCAm testing in the US (all tumor types) found that the quality of information given to patients by non-certified genetic healthcare professionals (HCPs) was not as consistent as that given by certified genetic HCPs, with far fewer patients in mainstream testing versus traditional counseling recalling having had a pre-test discussion, and what that included 107 . The types of training required by non-genetic specialists include generic consent training, plus specific genetics training, which involves learning how to identify eligible patients for gBRCAm testing, the relevance of gBRCAm testing, the significance for patients with a positive or negative result, the significance of a gBRCAm variant requiring evaluation, and implications of a positive test for family members 9 . Workshops designed to improve HCP knowledge and self-confidence have been shown to significantly enhance ability to overcome communication difficulties in relation to genetic testing and counseling 108 . We provide educational guides to support healthcare providers in their understanding of the gBRCA testing and consenting pathway ( supplementary information : HCP guide to genetic counseling: Understanding germline BRCA testing and its clinical implications in breast cancer and Germline BRCA testing pathway infographic ), as well as useful language to help explain the process to patients ( supplementary information : Patient-HCP flipbook: What you need to know about BRCA testing ).

Use of digital tools

Digital tools are being increasingly used across the genetic testing pathway for clinical assessment, family history taking, education, post-test counseling, and follow-up, and include web-based tools, mobile applications, chatbots, videos, and games 73 , 109 , 110 . They have been shown to improve access to genetic testing (particularly for patients in under-served areas), reduce waiting times, enhance continuity of care, increase patient engagement, and free up time for other patient-centered consultations 73 , 110 . Digital tools are associated with positive patient outcomes, including increased knowledge and reduced decision conflict, and achieve similar patient outcomes to in-person consultations 109 .

There are no digital tools that offer a comprehensive solution across the entire genetic counseling and testing pathway, with most tools developed for use in the pre-test counseling phase only 109 . The Genetics Navigator is currently in development and aims to supplement in-person consultations and support the full genetic testing pathway, including pre-test counseling, education, decision support, laboratory reporting, personalized return of results, and post-test counseling 110 . A digital pathway has also been integrated into the UK NHS clinical, laboratory, and informatics systems for delivery of gBRCAm testing to cancer patients and has been piloted as part of the BRCA-DIRECT study 111 . Results demonstrated that uptake of genetic testing using the digital pathway was non-inferior to those receiving pre-test information via telephone, with similarly good patient satisfaction and knowledge and low anxiety scores 111 .

The future of genetic testing in breast cancer

Germline versus somatic mutation testing.

Genetic testing of tumor tissue has the potential to identify both germline and somatic pathogenic (or likely pathogenic) variants, and thus identify more people who might benefit from targeted therapies. Indeed, several studies have demonstrated clinical benefit with PARP inhibitor treatment for somatic BRCAm (sBRCAm) breast cancers 112 , 113 , 114 . High concordance between germline and tumor BRCAm testing in breast and ovarian cancer has been observed 115 , 116 , 117 , 118 , 119 , 120 ; however, while sBRCAm and gBRCAm can be mutually exclusive in breast cancer, and not all mutation types can be detected by current clinical testing methods, it is possible that patients with metastatic breast cancer could benefit more from tumor testing than germline testing, as other abnormalities and targets could be identified 121 , 122 , 123 . For example, approvals of alpelisib plus fulvestrant for the treatment of PIK3CA m advanced or metastatic breast cancer 124 , capivasertib plus fulvestrant for advanced or metastatic breast cancer with PIK3CA m, AKT1 m, or PTEN m 125 , and pembrolizumab for the treatment of unresectable or metastatic solid tumors of any type with high tumor mutational burden 126 may have led to an increase in patient referrals for tumor testing using a gene panel assay. An increasing number of patients with BRCAm breast cancer could, therefore, receive an incidental positive result for BRCAm and be subsequently offered a gBRCA test to confirm the somatic or germline status, in accordance with NCCN Guidelines ® 21 .

Parallel testing of normal and tumor material offers an alternative approach that allows direct differentiation of somatic versus germline pathogenic (or likely pathogenic) variants, leading to timely treatment selection and genetic counseling that may otherwise be delayed with germline- or tumor-only testing 127 . Somatic testing alone would not distinguish between germline and somatic pathogenic (or likely pathogenic) variants, and thus may not be useful for determining future surveillance/surgery options for the patient, and may not benefit family members 128 . Therefore, an increasing number of centers are moving toward parallel testing for patients with a breast cancer diagnosis 127 . Analysis of circulating tumor DNA has the potential to identify both somatic and germline variants, and may offer a non-invasive alternative to tissue testing 129 .

Genetic testing beyond BRCA

Panel testing allows for the screening of multiple genes beyond BRCA1 and BRCA2 that may be associated with tumor development and/or treatment response 130 . For example, several other factors in the homologous recombination pathway have emerged as clinically relevant in surgical and treatment decision-making 131 , 132 . Pathogenic variants in breast cancer susceptibility genes beyond BRCA1 and BRCA2 are increasingly being considered in clinical trials with targeted therapies 113 , 133 , 134 and further recommendations for risk reduction, screening, and treatment strategies for carriers of these variants are being incorporated into clinical practice guideline updates and risk assessment tools 11 , 21 , 52 . For example, current NCCN Guidelines recommend discussion of risk-reducing mastectomy with patients found to harbor pathogenic or likely pathogenic variants in CDH1, PALB2, PTEN, STK11 , or TP53 , and consideration of RRSO at 45–50 years of age in patients with pathogenic or likely pathogenic variants in PALB2 , RAD51C , or RAD51D 21 . The web-based CanRisk tool, which integrates the presence of pathogenic variants in eight breast cancer susceptibility genes with several other risk factors to estimate the personal risk of breast cancer, is currently endorsed by multiple clinical guidelines 135 , 136 .

To summarize, advancements in patient information and care, in particular the introduction of PARP inhibitors for the treatment of breast and other cancers, have resulted in a substantial increase in demand for genetic testing. This demand is supported by the evidence that gBRCA testing in breast cancer management is a cost-effective strategy. However, without a substantial increase in personnel, traditional, genetics-led models of counseling and consenting are unable to meet the growing demand. A case can be made to increase the number of genetically trained HCPs but, even if possible, there will be a certain time lag before they are available. Mainstreaming models and the use of digital tools have demonstrated potential in providing efficient, patient-centered care that can meet the increasing needs of patients. In the future, we may see a move toward more widespread and comprehensive testing for germline and tumor alterations, raising further challenges as to how this can be effectively incorporated into comprehensive cancer care.

Wooster, R. et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 378 , 789–792 (1995).

Article   CAS   PubMed   Google Scholar  

Albertsen, H. et al. Genetic mapping of the BRCA1 region on chromosome 17q21. Am. J. Hum. Genet. 54 , 516–525 (1994).

CAS   PubMed   PubMed Central   Google Scholar  

Roy, R., Chun, J. & Powell, S. N. BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat. Rev. Cancer 12 , 68–78 (2011).

Article   PubMed   PubMed Central   Google Scholar  

Wang, S. S. Y., Jie, Y. E., Cheng, S. W., Ling, G. L. & Ming, H. V. Y. PARP inhibitors in breast and ovarian cancer. Cancers 15 , 2357 (2023).

Robson, M. et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N. Engl. J. Med. 377 , 523–533 (2017).

Litton, J. K. et al. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N. Engl. J. Med. 379 , 753–763 (2018).

Article   CAS   PubMed   PubMed Central   Google Scholar  

Geyer, C. E. Jr et al. Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high risk, early breast cancer. Ann. Oncol. 33 , 1250–1268 (2022).

Scheinberg, T. et al. Mainstream consent programs for genetic counseling in cancer patients: a systematic review. Asia Pac. J. Clin. Oncol. 17 , 163–177 (2021).

Article   PubMed   Google Scholar  

Percival, N. et al. The integration of BRCA testing into oncology clinics. Br. J. Nurs. 25 , 690–694 (2016).

Dusic, E. J. et al. Barriers, interventions, and recommendations: improving the genetic testing landscape. Front. Digit. Health 4 , 961128 (2022).

Sessa, C. et al. Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline. Ann. Oncol. 34 , 33–47 (2023).

Ford, D. et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 62 , 676–689 (1998).

Kuchenbaecker, K. B. et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317 , 2402–2416 (2017).

Lambertini, M. et al. Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants. NPJ Breast Cancer 7 , 16 (2021).

Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines ® ) for Breast Cancer Version 2.2024. © National Comprehensive Cancer Network, Inc. 2024. All rights reserved. Accessed May 17, 2024. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.

Schwartz, G. F. et al. Consensus conference on breast conservation, Milan, Italy, April 28-May 1, 2005. Breast J. 12 , 398–407 (2006).

Tung, N. M. et al. Management of hereditary breast cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline. J. Clin. Oncol. 38 , 2080–2106 (2020).

Scheepens, J. C. C., Veer, L. V., Esserman, L., Belkora, J. & Mukhtar, R. A. Contralateral prophylactic mastectomy: a narrative review of the evidence and acceptability. Breast 56 , 61–69 (2021).

Jia, Z. et al. Contralateral risk-reducing local therapy in breast cancer patients with BRCA1/2 mutations: systemic review and meta-analysis. Cancer Cell Int. 21 , 512 (2021).

van Sprundel, T. C. et al. Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. Br. J. Cancer 93 , 287–292 (2005).

Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic V.3.2024. © National Comprehensive Cancer Network, Inc. 2024. All rights reserved. Accessed May 17, 2024. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.

Wang, Y., Song, Z., Zhang, S., Wang, X. & Li, P. Risk-reducing salpingo-oophorectomy and breast cancer risk in BRCA1 or BRCA2 mutation carriers: a systematic review and meta-analysis. Eur. J. Surg. Oncol. 48 , 1209–1216 (2022).

Metcalfe, K. et al. Effect of oophorectomy on survival after breast cancer in BRCA1 and BRCA2 mutation carriers. JAMA Oncol. 1 , 306–313 (2015).

Terry, M. B. et al. Risk-reducing oophorectomy and breast cancer risk across the spectrum of familial risk. J. Natl Cancer Inst. 111 , 331–334 (2019).

Heemskerk-Gerritsen, B. A. et al. Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction. J. Natl Cancer Inst. 107 , djv033 (2015).

Hahnen, E. et al. Germline mutation status, pathological complete response, and disease-free survival in triple-negative breast cancer: secondary analysis of the GeparSixto randomized clinical trial. JAMA Oncol. 3 , 1378–1385 (2017).

Tutt, A. et al. Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial. Nat. Med. 24 , 628–637 (2018).

Pohl-Rescigno, E. et al. Association of germline variant status with therapy response in high-risk early-stage breast cancer: a secondary analysis of the GeparOcto randomized clinical trial. JAMA Oncol. 6 , 744–748 (2020).

Fasching, P. A. et al. BRCA1/2 mutations and bevacizumab in the neoadjuvant treatment of breast cancer: response and prognosis results in patients with triple-negative breast cancer from the GeparQuinto study. J. Clin. Oncol. 36 , 2281–2287 (2018).

Loibl, S. et al. Early breast cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann. Oncol. 35 , 159–182 (2024).

Loibl, S. et al. Addition of the PARP inhibitor veliparib plus carboplatin or carboplatin alone to standard neoadjuvant chemotherapy in triple-negative breast cancer (BrighTNess): a randomised, phase 3 trial. Lancet Oncol. 19 , 497–509 (2018).

Caramelo, O. et al. Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis. Hered. Cancer Clin. Pract. 20 , 34 (2022).

Tung, N. et al. TBCRC 031: randomized phase II study of neoadjuvant cisplatin versus doxorubicin-cyclophosphamide in germline BRCA carriers with HER2-negative breast cancer (the INFORM trial). J. Clin. Oncol. 38 , 1539–1548 (2020).

Metzger-Filho, O. et al. Matched cohort study of germline BRCA mutation carriers with triple negative breast cancer in brightness. NPJ Breast Cancer 7 , 142 (2021).

Robson, M. E. et al. OlympiAD extended follow-up for overall survival and safety: olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. Eur. J. Cancer 184 , 39–47 (2023).

Robson, M. E. et al. OlympiAD final overall survival and tolerability results: olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. Ann. Oncol. 30 , 558–566 (2019).

Litton, J. K. et al. Talazoparib versus chemotherapy in patients with germline BRCA1/2-mutated HER2-negative advanced breast cancer: final overall survival results from the EMBRACA trial. Ann. Oncol. 31 , 1526–1535 (2020).

Tutt, A. N. J. et al. Adjuvant olaparib for patients with BRCA1- or BRCA2-mutated breast cancer. N. Engl. J. Med. 384 , 2394–2405 (2021).

Fasching, P. A. et al. Neoadjuvant paclitaxel/olaparib in comparison to paclitaxel/carboplatinum in patients with HER2-negative breast cancer and homologous recombination deficiency (GeparOLA study). Ann. Oncol. 32 , 49–57 (2021).

Litton, J. K. et al. Neoadjuvant talazoparib in patients with germline BRCA1/2 mutation-positive, early-stage triple-negative breast cancer: results of a phase II study. Oncologist 28 , 845–855 (2023).

Balmaña, J. et al. Abstract OT2-18-02: OlympiaN: a phase 2, multicenter, open-label study to assess the efficacy and safety of neoadjuvant olaparib monotherapy and olaparib plus durvalumab in patients with BRCA mutations and early-stage HER2-negative breast cancer. Cancer Res. 83 , OT2-18-02–OT12-18-02 (2023).

Article   Google Scholar  

Cardoso, F. et al. 5th ESO-ESMO international consensus guidelines for advanced breast cancer (ABC 5). Ann. Oncol. 31 , 1623–1649 (2020).

Slamon, D. et al. Ribociclib and endocrine therapy as adjuvant treatment in patients with HR./HER2- early breast cancer: primary results from the phase III NATALEE trial. J. Clin. Oncol. 41 , LBA500 (2023).

Curigliano, G. et al. Understanding breast cancer complexity to improve patient outcomes: the St Gallen International Consensus Conference for fhe Primary Therapy of Individuals with Early Breast Cancer 2023. Ann. Oncol. 34 , 970–986 (2023).

Collins, J. M. et al. A real-world evidence study of CDK4/6 inhibitor treatment patterns and outcomes in metastatic breast cancer by germline BRCA mutation status. Oncol. Ther. 9 , 575–589 (2021).

Park, Y. H. et al. Longitudinal multi-omics study of palbociclib resistance in HR-positive/HER2-negative metastatic breast cancer. Genome Med. 15 , 55 (2023).

Bruno, L. et al. Cyclin-dependent kinase 4/6 inhibitor outcomes in patients with advanced breast cancer carrying germline pathogenic variants in DNA repair-related genes. JCO Precis. Oncol. 6 , e2100140 (2022).

Antrás, J. F. et al. Impact of pathogenic germline BRCA1/2 and PALB2 mutations and tumor aneuploidy in patients with HR+/HER2- metastatic breast cancer treated with CDK4/6 inhibitors. J. Clin. Oncol. 41 , 1075 (2023).

Park, S. Y. et al. Prognostic role of tumor subtype and germline BRCA mutation in advanced breast cancer patients treated with palbociclib plus endocrine therapy. Breast Cancer Res. Treat. 196 , 121–128 (2022).

Emens, L. A. et al. Atezolizumab and nab-paclitaxel in advanced triple-negative breast cancer: biomarker evaluation of the IMpassion130 study. J. Natl Cancer Inst. 113 , 1005–1016 (2021).

Forbes, C., Fayter, D., de Kock, S. & Quek, R. G. A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer. Cancer Manag. Res. 11 , 2321–2337 (2019).

Bedrosian, I. et al. Germline testing in patients with breast cancer: ASCO-Society of Surgical Oncology guideline. J. Clin. Oncol . 42 , 584–604 (2024).

NICE. Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer. (National Institute for Health and Care Excellence). Available from https://www.nice.org.uk/guidance/cg164/resources/familial-breast-cancer-classification-care-and-managing-breast-cancer-and-related-risks-in-people-with-a-family-history-of-breast-cancer-pdf-35109691767493 (Accessed August 2024), 2023.

Pujol, P. et al. Clinical practice guidelines for BRCA1 and BRCA2 genetic testing. Eur. J. Cancer 146 , 30–47 (2021).

Kemp, Z. et al. Evaluation of cancer-based criteria for use in mainstream BRCA1 and BRCA2 genetic testing in patients with breast cancer. JAMA Netw. Open 2 , e194428 (2019).

Alberty-Oller, J. J. et al. Adherence to NCCN Guidelines for genetic testing in breast cancer patients: who are we missing? Ann. Surg. Oncol. 28 , 281–286 (2021).

Yadav, S. et al. Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer. J. Clin. Oncol. 38 , 1409–1418 (2020).

Lux, M. P. & Fasching, P. A. Breast cancer and genetic BRCA1/2 testing in routine clinical practice: why, when and for whom? Geburtshilf. Frauenheilkd. 83 , 310–320 (2023).

Manahan, E. R. et al. Consensus guidelines on genetic testing for hereditary breast cancer from the American Society of Breast Surgeons. Ann. Surg. Oncol. 26 , 3025–3031 (2019).

Childers, C. P., Childers, K. K., Maggard-Gibbons, M. & Macinko, J. National estimates of genetic testing in women with a history of breast or ovarian cancer. J. Clin. Oncol. 35 , 3800–3806 (2017).

Tuffaha, H. W. et al. Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers. Genet. Med. 20 , 985–994 (2018).

Lim, K. K. et al. Is BRCA mutation testing cost effective for early stage breast cancer patients compared to routine clinical surveillance? The case of an upper middle-income country in Asia. Appl. Health Econ. Health Policy 16 , 395–406 (2018).

Norum, J. et al. BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer. ESMO Open 3 , e000328 (2018).

Sun, L. et al. A cost-effectiveness analysis of multigene testing for all patients with breast cancer. JAMA Oncol. 5 , 1718–1730 (2019).

Wu, H. L. et al. All HER2-negative breast cancer patients need gBRCA testing: cost-effectiveness and clinical benefits. Br. J. Cancer 128 , 638–646 (2023).

Beard, C., Monohan, K., Cicciarelli, L. & James, P. A. Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre. Eur. J. Hum. Genet. 29 , 872–880 (2021).

Abacan, M. et al. The global state of the genetic counseling profession. Eur. J. Hum. Genet. 27 , 183–197 (2019).

Maiese, D. R. et al. The 2019 medical genetics workforce: a focus on laboratory geneticists. Genet. Med. 25 , 100834 (2023).

Armstrong, J. et al. Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: the ABOUT study. JAMA Oncol. 1 , 1251–1260 (2015).

Torr, B. et al. A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot. J. Med. Genet. 59 , 1179–1188 (2022).

Delikurt, T., Williamson, G. R., Anastasiadou, V. & Skirton, H. A systematic review of factors that act as barriers to patient referral to genetic services. Eur. J. Hum. Genet. 23 , 739–745 (2015).

Ormond, K. E. et al. Genetic counseling globally: where are we now? Am. J. Med. Genet. C. Semin. Med. Genet. 178 , 98–107 (2018).

Shickh, S. et al. The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care. Genet. Med. 23 , 1086–1094 (2021).

Greenberg, S. E., Boothe, E., Delaney, C. L., Noss, R. & Cohen, S. A. Genetic counseling service delivery models in the United States: assessment of changes in use from 2010 to 2017. J. Genet. Couns. 29 , 1126–1141 (2020).

Kurian, A. W. et al. Genetic testing and counseling among patients with newly diagnosed breast cancer. JAMA 317 , 531–534 (2017).

Scott, N., O’Sullivan, J., Asgeirsson, K., Macmillan, D. & Wilson, E. Changing practice: moving to a specialist nurse-led service for BRCA gene testing. Br. J. Nurs. 29 , S6–S13 (2020).

Dusic, E. J. et al. Socioeconomic status and interest in genetic testing in a US-based sample. Healthcare 10 , 880 (2022).

Slomp, C. et al. The stepwise process of integrating a genetic counsellor into primary care. Eur. J. Hum. Genet. 30 , 772–781 (2022).

Rodriguez, N. J., Ricker, C., Stoffel, E. M. & Syngal, S. Barriers and facilitators to genetic education, risk assessment, and testing: considerations on advancing equitable genetics care. Clin. Gastroenterol. Hepatol. 21 , 3–7 (2023).

Chapman-Davis, E. et al. Racial and ethnic disparities in genetic testing at a hereditary breast and ovarian cancer center. J. Gen. Intern. Med. 36 , 35–42 (2021).

Peterson, J. M. et al. Racial disparities in breast cancer hereditary risk assessment referrals. J. Genet. Couns. 29 , 587–593 (2020).

Cragun, D. et al. Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors. Cancer 123 , 2497–2505 (2017).

Hann, K. E. J. et al. Awareness, knowledge, perceptions, and attitudes towards genetic testing for cancer risk among ethnic minority groups: a systematic review. BMC Public Health 17 , 503 (2017).

Tatineni, S. et al. Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center. Cancer Med. 11 , 1465–1473 (2022).

Caswell-Jin, J. L. et al. Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk. Genet. Med. 20 , 234–239 (2018).

Jones, T. et al. Racial and ethnic differences in BRCA1/2 and multigene panel testing among young breast cancer patients. J. Cancer Educ. 36 , 463–469 (2021).

Landry, L. G., Ali, N., Williams, D. R., Rehm, H. L. & Bonham, V. L. Lack of diversity in genomic databases is a barrier to translating precision medicine research into practice. Health Aff. 37 , 780–785 (2018).

Evans, D. G. et al. The importance of ethnicity: are breast cancer polygenic risk scores ready for women who are not of White European origin? Int. J. Cancer 150 , 73–79 (2022).

Schuster, A. L. et al. Priorities to promote participant engagement in the Participant Engagement and Cancer Genome Sequencing (PE-CGS) Network. Cancer Epidemiol. Biomarers 32 , 487–495 (2023).

Canedo, J. R. et al. Barriers and facilitators to dissemination and adoption of precision medicine among Hispanics/Latinos. BMC Public Health 20 , 603 (2020).

George, A. et al. Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. Sci. Rep. 6 , 29506 (2016).

Bokkers, K. et al. The feasibility of implementing mainstream germline genetic testing in routine cancer care-a systematic review. Cancers 14 , 1059 (2022).

Ip, E. et al. Evaluation of a mainstream genetic testing program for women with ovarian or breast cancer. Asia Pac. J. Clin. Oncol. 18 , e414–e419 (2022).

Bokkers, K. et al. Mainstream germline genetic testing for patients with epithelial ovarian cancer leads to higher testing rates and a reduction in genetics-related healthcare costs from a healthcare payer perspective. Gynecol. Oncol. 167 , 115–122 (2022).

Bokkers, K. et al. Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing. Hered. Cancer Clin. Pract. 20 , 33 (2022).

Richardson, M. et al. Oncology clinic-based hereditary cancer genetic testing in a population-based health care system. Cancers 12 , 338 (2020).

Piedimonte, S. et al. BRCA testing in women with high-grade serous ovarian cancer: gynecologic oncologist-initiated testing compared with genetics referral. Int. J. Gynecol. Cancer 30 , 1757–1761 (2020).

Rumford, M. et al. Oncologist-led BRCA ‘mainstreaming’ in the ovarian cancer clinic: a study of 255 patients and its impact on their management. Sci. Rep. 10 , 3390 (2020).

Lapointe, J. et al. A collaborative model to implement flexible, accessible and efficient oncogenetic services for hereditary breast and ovarian cancer: the C-MOnGene study. Cancers 13 , 2729 (2021).

Hallowell, N. et al. Moving into the mainstream: healthcare professionals’ views of implementing treatment focussed genetic testing in breast cancer care. Fam. Cancer 18 , 293–301 (2019).

Isselhard, A. et al. Implementation and evaluation of a nurse-led decision-coaching program for healthy breast cancer susceptibility gene (BRCA1/2) mutation carriers: a study protocol for the randomized controlled EDCP-BRCA study. Trials 21 , 501 (2020).

Berger-Hoger, B. et al. Nurse-led decision coaching by specialized nurses for healthy BRCA1/2 gene mutation carriers - adaptation and pilot testing of a curriculum for nurses: a qualitative study. BMC Nurs. 21 , 42 (2022).

Wright, S. et al. Patients’ views of Treatment-Focused Genetic Testing (TFGT): some lessons for the mainstreaming of BRCA1 and BRCA2 testing. J. Genet. Couns. 27 , 1459–1472 (2018).

Nilsson, M. P. et al. High patient satisfaction with a simplified BRCA1/2 testing procedure: long-term results of a prospective study. Breast Cancer Res. Treat. 173 , 313–318 (2019).

Gleeson, M. et al. Communication and information needs of women diagnosed with ovarian cancer regarding treatment-focused genetic testing. Oncol. Nurs. Forum 40 , 275–283 (2013).

Hoberg-Vetti, H. et al. BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. Eur. J. Hum. Genet. 24 , 881–888 (2016).

Cragun, D. et al. Differences in BRCA counseling and testing practices based on ordering provider type. Genet. Med. 17 , 51–57 (2015).

Fallowfield, L. et al. Talking about Risk, Uncertainties of Testing IN Genetics (TRUSTING): development and evaluation of an educational programme for healthcare professionals about BRCA1 & BRCA2 testing. Br. J. Cancer 127 , 1116–1122 (2022).

Lee, W. et al. Patient-facing digital tools for delivering genetic services: a systematic review. J. Med. Genet. 60 , 1–10 (2023).

Bombard, Y. & Hayeems, R. Z. How digital tools can advance quality and equity in genomic medicine. Nat. Rev. Genet. 21 , 505–506 (2020).

Torr, B. et al. LBA101 BRCA-DIRECT: a randomised UK study evaluating a digital pathway for germline genetic testing and non-inferiority of digitally-delivered information in women with breast cancer. Ann. Oncol. 34 , S1339 (2023).

Walsh, E. M. et al. Olaparib use in patients with metastatic breast cancer harboring somatic BRCA1/2 mutations or mutations in non-BRCA1/2, DNA damage repair genes. Clin. Breast Cancer 22 , 319–325 (2022).

Tung, N. M. et al. TBCRC 048: phase II study of olaparib for metastatic breast cancer and mutations in homologous recombination-related genes. J. Clin. Oncol. 38 , 4274–4282 (2020).

Batalini, F. et al. Analysis of real-world (RW) data for metastatic breast cancer (mBC) patients (pts) with somatic BRCA1/2 (sBRCA) or other homologous recombination (HR)-pathway gene mutations (muts) treated with PARP inhibitors (PARPi). J. Clin. Oncol. 39 , 10512–10512 (2021).

Hodgson, D. R. et al. Concordance of BRCA mutation detection in tumor versus blood, and frequency of bi-allelic loss of BRCA in tumors from patients in the phase III SOLO2 trial. Gynecol. Oncol. 163 , 563–568 (2021).

Blum, J. L. et al. Determinants of response to talazoparib in patients with HER2-negative, germline BRCA1/2-mutated breast cancer. Clin. Cancer Res. 28 , 1383–1390 (2022).

Bekos, C. et al. Reliability of tumor testing compared to germline testing for detecting BRCA1 and BRCA2 mutations in patients with epithelial ovarian cancer. J. Pers. Med. 11 , 593 (2021).

Callens, C. et al. Concordance between tumor and germline BRCA status in high-grade ovarian carcinoma patients in the phase III PAOLA-1/ENGOT-ov25 trial. J. Natl Cancer Inst. 113 , 917–923 (2021).

Hodgson, D. et al. Analysis of mutation status and homologous recombination deficiency in tumors of patients with germline BRCA1 or BRCA2 mutations and metastatic breast cancer: OlympiAD. Ann. Oncol. 32 , 1582–1589 (2021).

Rivera, D. et al. Implementing NGS-based BRCA tumour tissue testing in FFPE ovarian carcinoma specimens: hints from a real-life experience within the framework of expert recommendations. J. Clin. Pathol. 74 , 596–603 (2021).

Polak, P. et al. A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. Nat. Genet. 49 , 1476–1486 (2017).

Lai, Z. et al. Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets. BMC Cancer 22 , 13 (2022).

Zehir, A. et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat. Med. 23 , 703–713 (2017).

US Food and Drug Administration. Alpelisib in combination with fulvestrant for the treatment of PIK3CA-mutated, advanced or metastatic breast cancer - approval letter. Available from https://www.accessdata.fda.gov/drugsatfda_docs/nda/2019/212526Orig1s000Approv.pdf (Accessed August 2024), 2019.

US Food and Drug Administration. Capivasertib in combination with fulvestrant for the treatment of advanced or metastatic breast cancer with one or more PIK3CA/AKT1/PTEN-alteration - approval letter. Available from https://www.accessdata.fda.gov/drugsatfda_docs/appletter/2023/218197Orig1s000ltr.pdf (Accessed August 2024), 2023.

US Food and Drug Administration. FDA approves pembrolizumab for adults and children with TMB-H solid tumors. Available from https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-pembrolizumab-adults-and-children-tmb-h-solid-tumors (Accessed August 2024), 2020.

Liu, Y. L. & Stadler, Z. K. The future of parallel tumor and germline genetic testing: is there a role for all patients with cancer? J. Natl Compr. Cancer Netw. 19 , 871–878 (2021).

Green, M. F. et al. Concordance between genomic alterations detected by tumor and germline sequencing: results from a tertiary care academic center molecular tumor board. Oncologist 28 , 33–39 (2023).

Slavin, T. P. et al. Identification of incidental germline mutations in patients with advanced solid tumors who underwent cell-free circulating tumor DNA sequencing. J. Clin. Oncol. 36 , JCO1800328 (2018).

Anaclerio, F. et al. Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis. Front. Genet. 14 , 1060504 (2023).

Comeaux, J. G. et al. Risk-reducing mastectomy decisions among women with mutations in high- and moderate- penetrance breast cancer susceptibility genes. Mol. Genet. Genom. Med. 10 , e2031 (2022).

Article   CAS   Google Scholar  

Breast Cancer Association, Consortium et al. Breast cancer risk genes - association analysis in more than 113,000 women. N. Engl. J.Med. 384 , 428–439 (2021)..

Gruber, J. J. et al. A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes. Nat. Cancer 3 , 1181–1191 (2022).

Eikesdal, H. P. et al. Olaparib monotherapy as primary treatment in unselected triple negative breast cancer. Ann. Oncol. 32 , 240–249 (2021).

Tsoulaki, O. et al. Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice. Br. J. Cancer 130 , 2027–2036 (2024).

Carver, T. et al. CanRisk tool-A web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants. Cancer Epidemiol. Biomarkers Prev. 30 , 469–473 (2021).

Download references

Acknowledgements

This review article and materials presented herein were conceived by the authors following a series of meetings by the BRCA Testing in Breast Cancer Expert Panel (sponsored by AstraZeneca). Medical writing assistance, under the direction of the authors, was provided by Alison Lovibond PhD from BOLDSCIENCE Inc. funded by AstraZeneca UK, Plc. and Merck & Co., Inc., Kenilworth, NJ, USA, in accordance with Good Publication Practice 2022 guidelines. All images of individuals in this publication were obtained from stock photographs owned by AstraZeneca.

Author information

Authors and affiliations.

Breast and Tumor Center, Hirslanden Klinik St. Anna, Lucerne, Switzerland

Peter Dubsky

University of Lucerne, Faculty of Health Sciences and Medicine, Lucerne, Switzerland

Department of Obstetrics and Gynecology, Breast and Gynecologic Cancer Center, Sana Klinikum Offenbach, Offenbach, Germany

Christian Jackisch

Seoul National University Hospital, Cancer Research Institute, Seoul National University College of Medicine, Seoul National University, Seoul, Republic of Korea

Seock-Ah Im

MD Anderson Cancer Center, Houston, TX, USA

Kelly K. Hunt

National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan

Chien-Feng Li

Genetica, Lausanne, Switzerland

Sheila Unger

Hadassah University Hospital & Faculty of Medicine, Hebrew University, Jerusalem, Israel

Shani Paluch-Shimon

You can also search for this author in PubMed   Google Scholar

Contributions

P.D., C.J., and S.P-S. conceptualized and designed the review. P.D., C.J., S-A.I., K.K.H., C-F.L., S.U., and S.P-S. contributed to the literature search, writing, editing, and review of the manuscript. All authors critically revised and approved the final manuscript.

Corresponding author

Correspondence to Peter Dubsky .

Ethics declarations

Competing interests.

C.J. has received consultancy fees from AstraZeneca, Daiichi Sankyo, Eli Lilly & Co., Novartis, and Roche; received support for travel or to attend meetings from Daiichi Sankyo, Pierre Fabre, and Roche; and has an unpaid role on the AGO Task Force for treatment recommendations on diagnosis and therapy in breast cancer. K.K.H. has received research funding to her institution from Cairn Surgical, Eli Lilly & Co., and Lumicell; is an Editor for Current Breast Cancer Reports (Springer); has received consultancy fees from Armada Health and honoraria for lectures and educational events from AstraZeneca. P.D. has received grants to his institution from Bristol Myers Squibb, MSD, and Roche to support patient activities; consultancy fees to his institution from AstraZeneca, MSD, and Roche; payments for speaking engagements or educational activities to his institution from AstraZeneca; and support to his institution for attending meetings or travel from Roche. S-A.I. has received grants from AstraZeneca, Boryung, Eisai, Daewoong Pharmaceutical, Daiichi Sankyo, Pfizer, and Roche; and consultancy fees from AstraZeneca, Bertis, Daiichi Sankyo, Eisai, Eli Lilly & Co, GSK, Hanmi, Idience, MSD, Novartis, Pfizer, and Roche. S.P-S. has received an independent research grant from Pfizer; consultancy fees to their institution from AstraZeneca, Daiichi Sankyo, Eli Lilly & Co., Gilead, Medison, MSD, Novartis, Pfizer, Roche, and Sharing Progress in Cancer Care; support to their institution for attending meetings and/or travel from Gilead, Pfizer, and Roche; and is the Subject Editor for breast cancer and on the clinical practice guideline committee of the European Society for Medical Oncology (ESMO). S.U. has received honoraria to her institution for speaking engagements or educational events. C-F.L. has no competing interests to disclose.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions.

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ .

Reprints and permissions

About this article

Cite this article.

Dubsky, P., Jackisch, C., Im, SA. et al. BRCA genetic testing and counseling in breast cancer: how do we meet our patients’ needs?. npj Breast Cancer 10 , 77 (2024). https://doi.org/10.1038/s41523-024-00686-8

Download citation

Received : 26 February 2024

Accepted : 19 August 2024

Published : 05 September 2024

DOI : https://doi.org/10.1038/s41523-024-00686-8

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

Quick links

• Explore articles by subject
• Guide to authors
• Editorial policies

Sign up for the Nature Briefing: Cancer newsletter — what matters in cancer research, free to your inbox weekly.

For the best browsing experience please enable JavaScript. Instructions for Microsoft Edge and Internet Explorer , other browsers

• About cancer
• Get involved
• Our research
• Funding for researchers
• Cancer types
• Cancer in general
• Causes of cancer
• Coping with cancer
• Health professionals
• Do your own fundraising
• By cancer type
• By cancer subject
• Our funding schemes
• Applying for funding
• Managing your research grant
• How we deliver our research
• Find a shop
• Shop online
• Our eBay shop
• Our organisation
• Current jobs
• Cancer news

Breast cancer

Breast cancer is cancer that starts in the breast tissue. The treatment you need depends on the type of breast cancer you have as well as your general health. Treatments include surgery, chemotherapy, hormone therapy, and radiotherapy.

If breast cancer spreads to another part of the body, it is called secondary breast cancer. 

What is breast cancer?

Breast cancer is cancer that starts in the breast tissue. Find out about who gets breast cancer and where it starts.

Symptoms of breast cancer

Symptoms of breast cancer include a lump or thickening in the breast. Find out more about this and other possible symptoms and when you should see your GP.

Getting diagnosed with breast cancer

You usually start by seeing your GP. Or you may have had changes picked up through breast screening. Find out about being referred to a breast clinic and the tests you might have.

Survival for breast cancer

Survival is generally very good for breast cancer, particularly if you are diagnosed early. This is probably because of screening, early diagnosis and improved treatment. Find out more. 

Treatment for breast cancer

Treatment for breast cancer depends on a number of factors. Find out about breast cancer treatments, where and how you have them, and how to cope with possible side effects.

Stages and grades of breast cancer

Get information about how doctors stage and grade breast cancer. In the UK, doctors use the TNM system to stage breast cancer. You may also be told about the number staging system.

Types of breast cancer and related breast conditions

There are different types of breast cancer and breast conditions, including breast cancer in men, and conditions related to breast cancer. Find out more about the different types.

Secondary breast cancer

Secondary breast cancer means that a cancer that began in the breast has spread to another part of the body such as the bones or lungs.

Research and clinical trials for breast cancer

Research is looking into all aspects of breast cancer. Find out about the latest UK breast cancer research and clinical trials, and how you can take part.

Living with breast cancer

Get practical, physical and emotional support to help you cope with a diagnosis of breast cancer, and life during and after treatment.

Risks and causes of breast cancer

Read about the factors that can increase or reduce your risk of developing breast cancer. 

Breast cancer resources and support organisations

There are many organisations, support groups, books, videos and other resources to help you cope with breast cancer and its treatment. There is also information about mastectomy wear and prosthesis suppliers.

It’s a worrying time for many people and we want to be there for you whenever - and wherever - you need us. Cancer Chat is our fully moderated forum where you can talk to others affected by cancer, share experiences, and get support. Cancer Chat is free to join and available 24 hours a day.

Visit the Cancer Chat forum

About Cancer generously supported by Dangoor Education since 2010.

Find a clinical trial

Search our clinical trials database for all cancer trials and studies recruiting in the UK

Cancer Chat forum

Talk to other people affected by cancer

Nurse helpline 0808 800 4040

Questions about cancer? Call freephone 9 to 5 Monday to Friday or email us

Select "Patients / Caregivers / Public" or "Researchers / Professionals" to filter your results. To further refine your search, toggle appropriate sections on or off.

Home > Patients, Caregivers, and Advocates > About Cancer > Cancers > Breast Cancer

Breast Cancer

There are a number of different types of breast cancer. The most common form of breast cancer is ductal carcinoma, which begins in the cells of the ducts. Cancer that begins in the lobes or lobules is called lobular carcinoma and is more often found in both breasts than are other types of breast cancer. Inflammatory breast cancer is an uncommon type of breast cancer in which the breast is warm, red, and swollen.

Hereditary breast cancer makes up from 5 percent to 10 percent of all breast cancer diagnoses. Women who have certain gene mutations, such as a BRCA1 or BRCA2 mutation, have an increased risk of developing breast cancer and are also at increased risk of ovarian cancer. Other risk factors include estrogen (made in the body), dense breast tissue, age at menstruation and first birth, taking hormones for symptoms of menopause, obesity, and not getting enough exercise.

Approximately 310,720 women in the United States will be diagnosed with breast cancer in 2024, and 42,250 will die of the disease, according to the National Cancer Institute . From 2014 to 2020, the five-year survival rate for women diagnosed with breast cancer was 91.2 percent.

Males can also develop breast cancer, with 2,790 cases and 530 deaths estimated to occur among men in 2024. Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a man’s risk of the disease.

Source: National Cancer Institute

You can support the AACR's mission by contacting your representatives and senators and advocating for increased funding for lifesaving cancer research.

Continuing the Conversation on Cancer Disparities

Triumphant Thriver: Empowering Others Through Breast Cancer Advocacy

Closing Disparities Through Genetic Testing

• October is Breast Cancer Awareness Month
• Breast Cancer Treatment
• AACR Breast Cancer Research Fellowships

• About Breast Cancer
• Find Support
• Get Involved
• Free Resources
• Mammogram Pledge
• Wall of Support
• In The News
• Recursos en Español

About Breast Cancer > What is Breast Cancer? > Breast Cancer Facts & Stats

• What Is Cancer?
• Causes of Breast Cancer

Breast Cancer Facts & Stats

• Breast Tumors
• Breast Anatomy
• Male Breast Cancer
• Growth of Cancer
• Risk Factors
• Genetic Testing for Breast Cancer
• Other Breast Cancer Genes
• BRCA: The Breast Cancer Gene
• What To Do If You Tested Positive
• Breast Cancer Signs and Symptoms
• Breast Lump
• Breast Pain
• Breast Cyst
• Breast Self-Exam
• Clinical Breast Exam
• How to Schedule a Mammogram
• Healthy Habits
• Breast Cancer Screening
• Diagnostic Mammogram
• Breast Biopsy
• Waiting For Results
• Breast Cancer Stages
• Stage 1 (Stage 1A and 1B)
• Stage 2 (Stage 2A and 2B)
• Stage 3 (Stage 3A, 3B, and 3C)
• Ductal Carcinoma In Situ (DCIS)
• Invasive Ductal Carcinoma (IDC)
• Lobular Carcinoma In Situ (LCIS)
• Invasive Lobular Cancer (ILC)
• Triple Negative Breast Cancer (TNBC)
• Inflammatory Breast Cancer (IBC)
• Metastatic Breast Cancer (MBC)
• Breast Cancer During Pregnancy
• Other Types
• Choosing Your Doctor
• Lymph Node Removal & Lymphedema
• Breast Reconstruction
• Chemotherapy
• Radiation Therapy
• Hormone Therapy
• Targeted Therapy
• Side Effects of Breast Cancer Treatment and How to Manage Them
• Metastatic Breast Cancer Trial Search
• Standard Treatment vs. Clinical Trials
• Physical Activity, Wellness & Nutrition
• Bone Health Guide for Breast Cancer Survivors
• Follow-Up Care
• Myth: Finding a lump in your breast means you have breast cancer
• Myth: Men do not get breast cancer; it affects women only
• Myth: A mammogram can cause breast cancer or spread it
• Myth: If you have a family history of breast cancer, you are likely to develop breast cancer, too
• Myth: Breast cancer is contagious
• Myth: If the gene mutation BRCA1 or BRCA2 is detected in your DNA, you will definitely develop breast cancer
• Myth: Antiperspirants and deodorants cause breast cancer
• Myth: A breast injury can cause breast cancer
• Myth: Breast cancer is more common in women with bigger breasts
• Myth: Breast cancer only affects middle-aged or older women
• Myth: Breast pain is a definite sign of breast cancer
• Myth: Consuming sugar causes breast cancer
• Myth: Carrying a phone in your bra can cause breast cancer
• Myth: All breast cancers are the same
• Myth: Bras with underwire can cause breast cancer
• Can physical activity reduce the risk of breast cancer?
• Can a healthy diet help to prevent breast cancer?
• Does smoking cause breast cancer?
• Can drinking alcohol increase the risk of breast cancer?
• Is there a link between oral contraceptives and breast cancer?
• Is there a link between hormone replacement therapy (HRT) and breast cancer?
• How often should I do a breast self exam (BSE)?
• Does a family history of breast cancer put someone at a higher risk?
• Are mammograms painful?
• How does menstrual and reproductive history affect breast cancer risks?
• How often should I go to my doctor for a check-up?
• What kind of impact does stress have on breast cancer?
• What celebrities have or have had breast cancer?
• Where can I find a breast cancer support group?
• Can breastfeeding reduce the risk of breast cancer?
• Is dairy (milk) linked to a higher risk of breast cancer?
• Is hair dye linked to a higher risk of breast cancer?
• UPDATED! 3 Steps to Early Detection Guide
• UPDATED! Healthy Living & Personal Risk Guide
• NEW! Male Breast Cancer: What Men Need to Know
• Just Diagnosed with Breast Cancer… Now What?
• Smart Bites Cookbook: 7 Wholesome Recipes in 35 Minutes (or Less!)
• Weekly Healthy Living Tips: Volume 2
• Most Asked Questions: Breast Cancer Signs & Symptoms
• Cancer Caregiver Guide
• Breast Cancer Surgery eBook
• 10 Prompts to Mindfulness
• How to Talk About Breast Health
• Family Medical History Checklist
• Healthy Recipes for Cancer Patients eBook
• Chemo Messages
• Most Asked Questions About Breast Cancer Recurrence
• Breast Problems That Arent Breast Cancer eBook
• Nutrition Care for Breast Cancer Patients eBook
• Finding Hope that Heals eBook
• Dense Breasts Q&A Guide
• Breast Cancer Recurrence eBook
• What to Say to a Cancer Patient eBook
• Weekly Healthy Living Tips
• Bra Fit Guide
• Know the Symptoms Guide
• Breast Health Guide
• Mammogram 101 eBook
• Abnormal Mammogram eBook
• What Every Woman Needs to Know eBook
• Breast Cancer Resources

Last updated on Aug 1, 2024

1 in 8 women in the United States will be diagnosed with breast cancer in her lifetime. In 2024, an estimated 310,720 women and 2,800 men will be diagnosed with invasive breast cancer. Chances are, you know at least one person who has been personally affected by breast cancer. 

But there is hope. When caught in its earliest, localized stages, the 5-year relative survival rate is 99%. Advances in early detection and treatment methods have significantly increased breast cancer survival rates in recent years, and there are currently over 4 million breast cancer survivors in the United States. 

Awareness of the facts and statistics surrounding breast cancer in the United States is key in empowering individuals to make informed decisions about their health.

Table of Contents 

Facts & statistics Incidence statistics Statistics by age Statistics by ethnicity Survival & mortality statistics Male breast cancer statistics Facts & statistics images

What Is Breast Cancer?

Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. There are many different types of breast cancer that can affect both women and men.

To determine the extent of an individual’s breast cancer and if it has spread outside of the breast, the cancer is assigned a stage upon diagnosis . The early detection of breast cancer through annual mammography and other breast exams is the best defense against receiving a late-stage breast cancer diagnosis. Generally speaking, the earlier the cancer is detected, the greater the likelihood of a successful outcome.

Key Statistics & Facts About Breast Cancer In The United States

• In 2024, an estimated 310,720 new cases of invasive breast cancer will be diagnosed in women in the U.S., as well as 56,500 new cases of non-invasive (in situ) breast cancer . 1
• There are currently over 4 million breast cancer survivors in the United States. 1
• An estimated 42,250 U.S. women will die from breast cancer in 2024. 1  
• Risk of breast cancer recurrence depends on the type and staging of the initial breast cancer. Typically, the highest risk of recurrence is during the first few years after treatment and decreases over time. 2

Breast cancer incidence in the United States

• 1 in 8 women, or approximately 13% of the female population in the U.S., will develop breast cancer in their lifetime. 1
• Breast cancer is the most common cancer in American women , except for skin cancers. 1
• It is estimated that in 2024, approximately 30% of all new female cancer diagnoses will be breast cancer. 1
• On average, every 2 minutes a woman is diagnosed with breast cancer in the United States. 1
• Approximately 66% of breast cancer cases are diagnosed at a localized stage , before cancer has spread outside of the breast, when it is easiest to treat. 3
• The 5-year relative survival rate for cancer diagnosed at the localized stage is 99%. 1
• Approximately 15% of women diagnosed have a family history of breast cancer. Those with a first-degree relative (mother, sister, daughter) with breast cancer are nearly twice as likely to develop breast cancer themselves. 4

Breast cancer statistics by age

Though breast cancer in the United States occurs primarily in middle-aged and older women, age is not the only risk factor for a breast cancer diagnosis. Many risk factors beyond age may contribute to a breast cancer diagnosis, and sometimes there are no discernable risk factors at all.

• The average age of U.S. women diagnosed with breast cancer is 62 years old. 1
• Half of U.S. women who develop breast cancer are 62 years of age or younger when they are diagnosed. 1
• About 9% of all new breast cancer cases in the U.S. are diagnosed in women younger than 45 years old. 5
• Younger people, particularly those under age 35 at the time of their original breast cancer diagnosis, face a higher risk of breast cancer recurrence. 6

Breast cancer statistics by ethnicity

In the United States, breast cancer occurs within every racial and ethnic group. However, there are variations in statistics and outcomes across the different groups. Learn more about how NBCF is addressing disparities in breast cancer .

Black Women:

• The average age of Black women diagnosed with breast cancer is 60 years old , compared to an average age of 62 for white women. 1
• Black women are 40% more likely to die from breast cancer than white women. 1
• Black women have the lowest 5-year relative breast cancer survival rate of any racial or ethnic group. 1  
• 1 in 5 Black women with breast cancer are diagnosed with triple-negative breast cancer , which is harder to treat. This is higher than any other racial or ethnic group. 1

Hispanic Women:

• Overall, Hispanic women have a 20% lower incidence rate of breast cancer than other groups. 7
• Hispanic women are more likely than white women to be diagnosed with breast cancer at later stages when it is more difficult to treat. 1
• Breast cancer is the leading cause of cancer death for Hispanic women. 1

Asian, Pacific Islander, American Indian, and Alaska Native Women:

• Asian and Pacific Islander women are more likely to be diagnosed with localized (earlier stage, more treatable) breast cancer than other groups. 1
• Asian and Pacific Islander women have the lowest death rate from breast cancer . 1
• American Indian and Alaska Native women have the lowest incidence rate of developing breast cancer. 1
• Chinese and Japanese women have the highest breast cancer survival rates. 7

Breast cancer survival & mortality statistics

Breast cancer survival rates are calculated using different forms of data, including the type and staging of breast cancer at diagnosis. These rates give an idea of what percentage of people with the same type and stage of cancer are still alive after a certain time period—usually 5 years—after they were diagnosed. This is called the 5-year relative survival rate.

• The 5-year relative survival rate in the U.S. for all types and stages of breast cancer combined is 91%. 1
• The 5-year relative survival rate in the U.S. of localized ( early stage ) breast cancer is 99%. 1

• Breast cancer is the second leading cause of cancer death in U.S. women, behind lung cancer. The chance that a woman will die from breast cancer is 1 in 39, or about 2.5%. 1
• In 2024, an estimated 42,250 women will die from breast cancer in the U.S. 1
• Breast cancer death rates have slowly decreased since 1989, for an overall decline of 43% through 2020. This is in part due to better screening and early detection efforts, increased awareness, and continually improving treatment options. 1
• Women who receive regular screenings for breast cancer have a 26% lower breast cancer death rate than women who do not receive screenings. 5

Breast cancer in men statistics

All people are born with some breast cells and tissue, including men. Although rare, men get breast cancer too . 

• In 2024, an estimated 2,800 men will be diagnosed with invasive breast cancer in the United States. 1
• An estimated 530 U.S. men will die from breast cancer in 2024. 1
• The lifetime risk of a U.S. man developing breast cancer is about 1 in 726. 1
• Black men with breast cancer tend to have a worse prognosis, or outlook, than white men with breast cancer. 1

Awareness is the first step in making informed choices about breast health. Donate now to help NBCF support more women and men facing breast cancer in communities throughout the United States.

Share These Facts & Stats and Support Breast Cancer Awareness

Click on each image to download

Breast Cancer Disparities

Sources: 1 American Cancer Society ( cancer.org ) 2 Johns Hopkins ( hopkinsmedicine.org ) 3 National Cancer Institute ( cancer.gov ) 4  BreastCancer.org ( breastcancer.org ) 5  Centers for Disease Control & Prevention ( cdc.gov ) 6  Mayo Clinic ( mayoclinic.org ) 7  National Institutes of Health ( nih.gov )

Online Help

Our 24/7 cancer helpline provides information and answers for people dealing with cancer. We can connect you with trained cancer information specialists who will answer questions about a cancer diagnosis and provide guidance and a compassionate ear. 

Chat live online

Select the  Live Chat button at the bottom of the page 

Call us at  1-800-227-2345

Available any time of day or night

Our highly trained specialists are available 24/7 via phone and on weekdays can assist through online chat. We connect patients, caregivers, and family members with essential services and resources at every step of their cancer journey. Ask us how you can get involved and support the fight against cancer. Some of the topics we can assist with include:

• Referrals to patient-related programs or resources
• Donations, website, or event-related assistance
• Tobacco-related topics
• Volunteer opportunities
• Cancer Information

For medical questions, we encourage you to review our information with your doctor.

Breast Cancer

Whether you or a loved one are worried about developing breast cancer, have just been diagnosed, are going through breast cancer treatment, or are trying to stay well after treatment, this detailed information can help you find the answers you need.

(For information on breast cancer in men, see Breast Cancer in Men .) 

About Breast Cancer

Breast cancer risk and prevention, breast cancer early detection and diagnosis, understanding a breast cancer diagnosis, breast reconstruction surgery, treating breast cancer, living as a breast cancer survivor, non-cancerous breast conditions, easy reading, if you have breast cancer.

Read this short, simple, guide to help understand the next steps if you or someone you know has just been diagnosed with breast cancer.

Downloadable PDFs

• About and Key Statistics [PDF]
• Causes, Risks, Prevention [PDF]
• Detection and Diagnosis [PDF]
• Understanding Your Diagnosis [PDF]
• Treatment and Side Effects [PDF]
• Breast Reconstruction [PDF]
• Next Steps After Treatment [PDF]
• Non-cancerous Breast Conditions [PDF]

Breast Pathology

Understanding your breast pathology report.

After a breast biopsy, your doctor will get a report that gives a diagnosis for each sample taken. Learn more about breast pathology reports here.

This information is possible thanks to people like you.

We depend on donations to keep our cancer information available for the people who need it most.

Tools & Resources

Fact sheet: breast cancer facts for patients and caregivers.

Get the facts about breast cancer, including risk factors, prevention, early detection, treatment, and more.

Quiz: How Much Do You Know About Breast Cancer?

When it comes to your breast health, don't be fooled by rumors and misinformation. Test your knowledge of 6 common beliefs about breast cancer.

Infographic: 7 Tips for Getting a Mammogram

Learn what you need to know about this test for finding breast cancer early.

Flyer: Breast Density and Your Mammogram Report

Learn what it means if your mammogram report says you have dense breasts.

Breast Cancer Videos

Watch videos about breast cancer screening, genetic testing, potential side effects of treatment, and personal stories from breast cancer survivors.

Flyer: After a Breast Cancer Diagnosis

Find out what to expect if you have been told you have breast cancer.

Personal Health Manager

Organize your cancer journey with the American Cancer Society Personal Health Manager.

Caregiver Resource Guide

A helpful tool for people who are caring for someone with cancer. View the complete guide here.

More Resources

Making Strides Against Breast Cancer

Shop Hair Loss and Post-surgical Products

News & stories, breast cancer news, stories of hope, breast cancer research highlights, help us end cancer as we know it, for everyone..

If this was helpful, donate to help fund patient support services, research, and cancer content updates.

Warning: The NCBI web site requires JavaScript to function. more...

An official website of the United States government

The .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site.

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

• Publications
• Account settings
• Browse Titles

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

StatPearls [Internet].

Breast cancer.

Gopal Menon ; Fadi M. Alkabban ; Troy Ferguson .

Affiliations

Last Update: February 25, 2024 .

• Continuing Education Activity

Breast cancer is the most common cancer diagnosed in women, accounting for more than 1 in 10 new cancer diagnoses annually, and is the second most common cause of cancer death among women worldwide. The risk factors for breast cancer are well established, and risk reduction plays a vital role in reducing the incidence of breast cancer. Breast cancer typically evolves silently, usually discovered on routine screening in the Western world. Without screening, breast cancer is often detected as a palpable breast mass. Surgery, radiation, chemotherapy, and immunotherapy are used in combination to treat breast cancer, depending on the stage and type of tumor. Improvements in these treatment modalities have resulted in significant improvements in overall survival and patient-reported outcomes. 

This activity for healthcare professionals is designed to enhance the learner's competence when managing breast cancer, equipping them with updated knowledge, skills, and strategies for timely identification, effective interventions, and improved coordination of care, leading to better outcomes for patients outcomes and reduced morbidity.

• Identify the risk factors for breast cancer.
• Differentiate the various types of breast cancer. 
• Compare the recommended treatment options for breast cancer.
• Strategize with interprofessional team members to improve patient care and optimize outcomes for patients affected by breast cancer.
• Introduction

Breast cancer is the most common cancer diagnosed in women and the second most common cause of death from cancer among women worldwide. [1] The breasts are paired glands of variable size and density that lie superficial to the pectoralis major muscle. They contain milk-producing cells arranged in lobules; multiple lobules are aggregated into lobes with interspersed fat. Milk and other secretions are produced in acini and extruded through lactiferous ducts that exit at the nipple. Breasts are anchored to the underlying muscular fascia by Cooper ligaments, which support the breast. [2]

Breast cancer most commonly arises in the ductal epithelium (ie, ductal carcinoma) but can also develop in the breast lobules (ie, lobular carcinoma). Several risk factors for breast cancer have been well described. In Western countries, screening programs have succeeded in identifying most breast cancers through screening rather than due to symptoms. However, in much of the developing world, a breast mass or abnormal nipple discharge is often the presenting symptom. [3]  Breast cancer is diagnosed through physical examination, breast imaging, and tissue biopsy. Treatment options include surgery, chemotherapy, radiation, hormonal therapy, and, more recently, immunotherapy. Factors such as histology, stage, tumor markers, and genetic abnormalities guide individualized treatment decisions. [1]  

Breast Cancer Risk Factors

Identifying factors associated with an increased incidence of breast cancer development is important in general health screening for women. Risk factors for breast cancer include: [4] [5]  (see Image.  Breast Cancer Risk Factors)

Age : The age-adjusted incidence of breast cancer continues to increase with the advancing age of the female population.

Gender : Most breast cancers occur in women.

Personal history : A history of cancer in one breast increases the likelihood of a second primary cancer in the contralateral breast.

Histologic : Histologic abnormalities diagnosed by breast biopsy constitute an essential category of breast cancer risk factors. These abnormalities include lobular carcinoma in situ (LCIS) and proliferative changes with atypia.

Family history and genetic mutations : First-degree relatives of patients with breast cancer have a 2-fold to 3-fold excess risk for the development of the disease. Genetic factors cause 5% to 10% of all breast cancer cases but may account for 25% of cases in women younger than 30 years.  BRCA1  and  BRCA2  are the most important genes responsible for increased breast cancer susceptibility. 

Reproductive : Reproductive milestones that increase a woman’s lifetime estrogen exposure are thought to increase breast cancer risk. These include the onset of menarche before age 12, first live childbirth after age 30 years, nulliparity, and menopause after the age of 55.

Exogenous hormone use : Therapeutic or supplemental estrogen and progesterone are taken for various conditions, with the most common scenarios being contraception in premenopausal women and hormone replacement therapy in postmenopausal women.

Other : Radiation, environmental exposures, obesity, and excessive alcohol consumption are some other factors that are associated with an increased risk of breast cancer.

• Epidemiology

Invasive breast cancer remains the most common cancer among women worldwide, accounting for approximately 11.7% of new cases in 2020. [6] In the US, 1 in 8 women and 1 in 1000 men will develop breast cancer during their lifetime. [7] [8] [9]  The incidence rate of breast cancer increases with age, from 1.5 cases per 100,000 in women aged 20 to 24 to a peak of 421.3 cases per 100,000 in women aged 75 to 79; 95% of new cases occur in women aged 40 years or older. The median age of women at the time of breast cancer diagnosis is 61 years. 

A rapid increase in the incidence of breast cancer was noted until 2000, after which the incidence began to decline. More significant decreases occur in women younger than 50 years. With early detection and significant advances in treatment, breast cancer death rates have decreased over the past 25 years in North America and parts of Europe. In the US, breast cancer-related mortality dropped by 43% from 1980 to 2020. However, in many African and Asian countries (eg, Uganda, South Korea, and India), breast cancer incidence and death rates continue to rise. [6]  Even within the US, marked disparity exists in detection and survival rates based on socioeconomic status and race. Although the incidence is highest among non-Hispanic whites, the mortality rate is significantly higher among African Americans. According to the American Cancer Society (ACS), breast cancer rates among women from various racial and ethnic groups are as follows: [10]  

• Non-Hispanic white: 128.1 in 100,000
• African American: 124.3 in 100,000
• Hispanic/Latina: 91.0 in 100,000
• American Indian/Alaska Native: 91.9 in 100,000
• Asian American/Pacific Islander: 88.3 in 100,000
• Pathophysiology

Most breast cancer is sporadic (90%-95%), with only 5% to 10% of patients having an identifiable genetic mutation. [11]   BRCA 1 and 2 are the most common associated genetic conditions. Invasive ductal and invasive lobular carcinoma are the most common pathologic forms of invasive breast cancer. Carcinogenesis occurs due to a complex interplay of genetic and environmental risk factors, hormonal influences, and patient-related factors. The pathogenesis, treatment, and prognosis are closely associated with the following molecular subtypes of breast cancer:

• Luminal A : Hormone receptor-positive, human epidermal growth factor receptor (HER)-2 negative
• Luminal B : Hormone receptor-positive, HER-2 positive
• Basal-like : Hormone receptor and HER-2 negative
• HER-enriched : HER-2 positive, hormone receptor-negative

Hormone receptor-positive tumors (ie, luminal A and B) tend to be less aggressive, with improved survival rates. [12] HER-2 enriched tumors are more aggressive, with a poor prognosis without targeted therapy. In the era of targeted anti-HER therapy (eg, trastuzumab), the paradigm has shifted. [13] Basal-like tumors are negative for the molecular markers and tend to have a worse prognosis with poor survival rates. [14]  

• Histopathology

Invasive breast cancer is characterized by the invasion of neoplastic cells beyond the basement membrane that can be morphologically varied, with several subtypes described. All specimens should be tested for hormone receptors (ie, estrogen and progesterone) and HER-2 receptors. (see Image.  Breast Estrogen Receptor Staining) Other critical components assessed on the histopathologic exam include tumor grade, pleiomorphism, Ki-67 index, morphology, tumor necrosis, multifocality, and precancerous lesions. The following are the most common histologic types of invasive breast cancer.

Ductal adenocarcinoma : This histologic type comprises 50% to 75% of all invasive breast cancers. Clinically, these tumors are often felt as a breast mass secondary to a significant fibrotic reaction. Microscopically, the lesion arises in the terminal duct-lobular unit with abnormal epithelial cells with varying degrees of atypia. These cells invade the basement membrane. However, there are no pathognomonic histologic features of invasive ductal carcinoma. [1]  (see Image.  Invasive Ductal Carcinoma).

Lobular carcinoma : Invasive lobular cancer makes up 10% to 15% of breast cancer and tends to permeate the breast in a single-file nature. This results in tumors that typically remain clinically occult, escaping detection on mammography or physical examination until the disease becomes extensive. A discrete mass is seldom palpated. Multifocal tumors and bilateral disease are more common with invasive lobular carcinoma. Characteristically, these tumors stain negative for E-cadherin. [15]  (see  Image.  Pleomorphic Lobular Breast Carcinoma).

Mucinous carcinoma : Also known as colloid carcinomas, these tumors, which make up 2% to 5% of breast cancers, are well-demarcated in older women, typically characterized by mucin production. [16]  

Tubular carcinoma : Microscopically characterized by infiltrating cells with minimal atypia that form small glands and tubules, 1% to 2% of breast cancers are among this subtype. [16]  

Medullary carcinoma : These aggressive tumors are poorly differentiated and seen more commonly in BRCA mutant and younger patients. [17]

• History and Physical

A periodic review of patient history for breast cancer risk assessment is recommended by the American College of Obstetricians and Gynecologists (ACOG). [18] Clinicians can use online assessment tools to help calculate a patient's breast cancer risk. Most breast cancer patients are asymptomatic, and lesions are discovered during routine breast examination or screening mammography. With increasing size, the patient may notice a palpable lump. Breast pain is an unusual symptom that happens 5% of the time. [19] More advanced disease may present with symptoms including peau d'orange, frank ulceration, axillary lymphadenopathy, or signs of distant metastasis. Inflammatory breast cancer, an advanced form of breast cancer, may have clinical features similar to breast abscess (eg, swelling, redness, and other local signs of inflammation). [20]  (see  Image.  Breast Cancer Axillary Lymphadenopathy)

A thorough physical exam is a vital part of the clinical assessment for breast cancer. Both breasts must be examined in the sitting, standing, and supine positions, with the arm abducted, extended, and externally rotated. Palpation Overlying skin changes, nipple discharge, edema, peau d'orange, and ulceration should be noted. (see  Image.  Clinical Signs of Breast Carcinoma). Careful palpation of the regional lymph node basins for lymphadenopathy is also essential. Although some societies (eg, American Cancer Society) no longer recommend routine clinical breast examinations in asymptomatic, low-risk women as it has not been found to have a significant benefit, ACOG states that routine clinical breast examinations may be offered to these women, though not required. Furthermore, ACOG recommends an interval of every 1 to 3 years for women aged 25 to 39 years, and every year for women >40 years is appropriate if a screening breast examination is performed. However, a clinical breast examination should always be done for high-risk women and symptomatic women. [18]  See StatPearls' companion topic, "Breast Examination Techniques," for additional information on clinical breast exams. [21]

Diagnostic Breast Imaging

Mammography is the most commonly used modality for screening and diagnosis of breast cancer. [22] Abnormal findings on mammography include mass lesions, calcifications, or architectural distortion. When identified on screening mammography, diagnostic mammography, which utilizes higher quality imaging with several views, is indicated. Mammography is of limited utility in patients with dense breasts, in younger patients, and in those who cannot tolerate the breast compression that is required. Breast ultrasound or magnetic resonance imaging (MRI) with contrast may be utilized in such cases. Breast ultrasound is similar in sensitivity to mammography and can be used to obtain image-guided biopsy. Though MRI is the most sensitive imaging study, it is time-consuming, has limited availability, and is expensive. [23]  Indications for MRI include axillary lymph node disease and an occult primary malignancy, Paget disease, multifocal or bilateral cancers, neoadjuvant chemotherapy treatment response assessment, and high-risk patient screening. [24]  (see Image.  Breast Mammogram)

Breast imaging findings are classified by their Breast Imaging Reporting and Data System (BI-RADS) category, which correlates imaging findings with their probability of underlying malignancy and recommends a broad treatment strategy. The BI-RADS categories range from 0 to 6. [25]  

Tissue Biopsy

Once a suspicious lesion is identified, tissue biopsy with stereotactic core needle biopsy is performed with imaging guidance. [26] [27] [28]  Core needle biopsy is superior to fine needle aspiration and should be performed whenever possible. [29] In patients with clinically positive regional lymph nodes, an ultrasound-guided core needle biopsy is performed. Radiographically identifiable markers should be placed during the biopsy to mark the site in both the primary cancer and the lymph node basin to help identify and localize the lesion later. Breast tissue must be sent for a pathologic exam, including hormonal and Herceptin receptor testing. 

Staging Imaging

Routine laboratory investigations and imaging for systemic disease are not recommended for operable breast cancer in the absence of symptoms. If associated symptoms are present, an MRI brain, chest CT scan, bone scan, or CT of the abdomen and pelvis may be performed as indicated. Baseline complete blood count and comprehensive metabolic panel, including liver function tests, are indicated if neoadjuvant chemotherapy is planned. For clinically advanced breast carcinoma (eg, inflammatory breast cancer, chest wall or skin involvement, and bulky axillary lymphadenopathy), a chest, abdomen, and pelvis CT along with a bone scan or an FDG-PET scan is often used. [30]  

• Treatment / Management

Breast cancer treatment is nuanced and based on various factors, including the disease stage, pathology, patient preference, and available resources. In general, breast cancer management approaches are divided into early breast cancer, locally advanced breast cancer, and metastatic breast cancer treatment. [30]  

Early Breast Cancer

Early breast cancer includes tumors <5 cm in size without clinically positive lymph nodes. Treatment involves surgery, chemotherapy, radiation, and hormonal therapy, depending on the stage and molecular profile. [30] The modalities used include:

• Surgical treatment : Options to excise the primary tumor include breast conservation surgery (eg, partial mastectomy or lumpectomy) or a total mastectomy. 
• Axillary lymph node management : Sentinel lymph node biopsy is performed during the operation. Without extranodal extension, no further axillary surgery is required if 2 to 3 axillary lymph nodes are microscopically positive. A completion axillary dissection or axillary radiation is indicated in patients with >3 positive lymph nodes or extranodal extension.
• In hormone receptor-positive tumors, the decision to initiate chemotherapy is based on risk stratification using genomic analysis of the primary using commercially available kits (eg, Oncotype Dx). High-risk patients benefit from chemotherapy in addition to hormonal therapy. 
• All HER2-positive patients with tumors >1 cm should receive anti-HER2-directed therapy.
• All triple-negative patients with tumors > 1 cm should receive systemic chemotherapy.
• Radiation : Patients undergoing breast conservation surgery (BCS) must receive radiation to the breast with a boost to the tumor bed to reduce local recurrence. Patients who undergo mastectomy do not need breast radiation, except in certain circumstances (eg, >5 cm tumor, chest wall invasion, skin involvement, multifocal tumor, ≥4  positive nodes). 
• Hormonal therapy : Anti-estrogen or aromatase inhibitor therapy is indicated in all hormone receptor-positive patients.

Up-front chemotherapy (ie, neoadjuvant therapy) has been increasingly used in early-stage triple-negative and HER2-positive tumors. Delivering the chemotherapy up-front has several advantages, including allowing response assessment, a greater likelihood of completing chemotherapy, and an increased likelihood of breast conservation therapy; therefore, clinicians will likely use this strategy more extensively. [31] [32]  

Locally Advanced Breast Cancer (LABC)

Locally advanced breast cancer (LABC) primarily consists of tumors larger than 5 cm or those with clinically positive lymph nodes. Most patients with LABC will receive some form of neoadjuvant therapy, with adjunct surgery and radiation therapy. Patients with LABC typically undergo a breast MRI at baseline. The primary tumor and the involved lymph nodes must have radiographically detectable markers placed before initiation of chemotherapy, as tumors can shrink and disappear after therapy. [30]  

Chemotherapy regimens vary based on the tumor pathology (eg, hormone receptor-positive, HER2-positive, or triple-negative), the patient's age and physical status, and locally available resources. The goals of upfront chemotherapy are to reduce the size of the primary, eradicate micrometastatic disease, and assess disease biology based on the responsiveness of the tumor to chemotherapy. After completion of the chemotherapy regimen, breast and axillary imaging are repeated to assess response to chemotherapy and determine further management, including:

• Surgical treatment : Options to excise the primary tumor include BCS or a total mastectomy. Contraindications to BCS include large tumors, chest wall or skin involvement, multifocal disease, inability to receive radiation, and large tumor size to breast size ratio. 
• Axillary lymph node management : In patients with a clinically positive axilla at diagnosis, an axillary dissection is always performed, regardless of the response of the tumor to neoadjuvant chemotherapy. In patients with a clinically negative axilla, sentinel lymph node biopsy is performed at the time of surgery. At least 3 lymph nodes should be harvested using a dual-tracer technique. Patients with residual disease should undergo a completion axillary dissection or axillary radiation.
• Systemic chemotherapy : Patients with residual disease after systemic chemotherapy may benefit from additional chemotherapy based on the molecular characteristics. 
• Radiation therapy : The indications for radiation are similar to BCS. 
• Hormonal therapy : Anti-estrogen or aromatase inhibitor therapy is indicated in all hormone receptor-positive patients.

Metastatic Breast Cancer

Metastatic breast cancer is managed primarily with systemic therapy. Chemotherapy, targeted therapy, immunotherapy, and hormonal therapy are all options, depending on the molecular profile and patient fitness. Palliative radiation may be used in controlling bulky primary disease and metastases to the brain, bone, and lung. Surgery is not recommended except for symptom control and palliative therapy. [33]  

• Differential Diagnosis

The differential diagnosis for breast cancer includes the following:

• Mastitis or breast abscess: Mastitis can be confused with inflammatory breast cancer. Inflammation or cellulitis that does not respond to antibiotics should be evaluated further.
• Fat necrosis: Traumatic fat necrosis can harden and present as a mass that mimics breast cancer. 
• Fibroadenoma: Fibroadenomas >2 cm are typically excised to rule out coexisting breast cancer. 
• Surgical Oncology

Surgery plays a central role in managing breast cancer. [30] With the increased use of highly effective chemotherapy and targeted therapy, operations have become less extensive and morbid, while survival has improved. In current practice, surgery helps manage the primary tumor and provides essential staging information. BCS can be performed in most patients with tumors <5 cm, provided that the breast is large enough for a cosmetic result. Mastectomy is indicated in large primary tumors, tumors invading the skin or chest wall, multifocal cancers, inflammatory breast cancer, and in patients who are unable to have radiation. Sentinel lymph node biopsy is a vital staging procedure in patients with a clinically negative axilla. Those with 1 to 3 positive lymph nodes on sentinel node biopsy and without gross extranodal extension can safely avoid axillary lymph node dissection. Patients with clinically positive axillary nodes typically require an axillary lymph node dissection. [34] The following are the primary operations performed for breast cancer and in the axilla.

Partial Mastectomy or Lumpectomy

Partial mastectomy or lumpectomy involves the excision of a portion of the breast tissue with a margin of healthy tissue. [35] The incision can vary based on the location of the tumor and the desired cosmesis. Typically incisions are circumareolar, radial, or along the breast skin crease. Partial mastectomy is the centerpiece of BCS, allowing for the conservation of most of the breast. The cosmetic results depend on the amount of breast tissue removed compared to the remaining breast tissue and the nipple preservation. For nonpalpable lesions, the lesion must be localized preoperatively, usually with a wire or radioactive seed, to ensure the removal of the entire tumor. 

Simple Mastectomy and Nipple-sparing Mastectomy

Simple mastectomy involves excision of the entire breast and nipple-areola complex. [34] The underlying pectoralis major fascia is removed as well. The amount of skin preserved can vary based on whether reconstruction is planned and on the type of reconstruction. A nipple-sparing mastectomy is a relatively recent modification of the simple mastectomy in which the nipple-areolar complex is spared, and the breast tissue is excised through a small circumareolar incision. The cosmetic results of reconstruction are superior to a conventional mastectomy, with a slightly increased but acceptably poorer oncologic outcome. 

Modified Radical Mastectomy

Modified radical mastectomy combines the simple mastectomy technique with axillary lymph node dissection. The mastectomy incision is usually extended for the axillary contents to be removed. Radical mastectomy, which includes the removal of the pectoral muscles and sacrifice of the nerves, is seldom performed. 

Axillary Sentinel Lymph Node Biopsy and Axillary Lymph Node Dissection

The axillary lymph nodes drain much of the ipsilateral breast and are divided into 3 levels by the pectoralis minor muscle. A radiotracer or blue dye is injected near the primary, and 1 to 3 lymph nodes in the axilla that have the highest uptake of radiotracer or are blue are excised. When done with a lumpectomy, the same incision can sometimes be used, or a separate incision at the axillary hairline may be required. Axillary lymph node dissection involves the removal of all the fibrofatty and lymphoid tissue in levels 2 and 3, with preservation of the long thoracic nerve and thoracodorsal nerve. [36] [37]

• Radiation Oncology

Radiation therapy has a significant role in local disease control, primarily in the adjuvant setting, but may also be used for palliative therapy. In early-stage breast cancer, adjuvant radiotherapy has been shown to reduce the risk of breast recurrent disease by approximately 50%. [38] [39]  While adjuvant radiotherapy in early-stage breast cancer has not been shown to improve overall survival, it is an essential part of the breast conservation approach as radiotherapy reduces the risk of recurrence and the need for additional surgery. Modalities to deliver adjuvant radiotherapy include external beam radiation, brachytherapy, or a combination. [40] [41]

Radiation Therapy Delivery Techniques

Accelerated Partial Breast Irradiation

A select number of patients may qualify for Accelerated Partial Breast Irradiation (APBI). The American Society of Radiation Oncologists (ASTRO) appropriateness guidelines consist of suitable, cautionary, and unsuitable candidates for this treatment. [42]  APBI may be delivered using surgically implantable single or multi-channel channel catheter devices. These implants rely on an Ir-192 HDR afterloader to deliver conformal radiotherapy via brachytherapy. (See StatPearls' companion topic, "Brachytherapy," for additional information.) Alternatively, APBI may be delivered using external beam radiotherapy. In this case, an implantable device is unnecessary, but surgical clips, coils, or 3D implantable markers may be used to delineate the surgical cavity for external beam radiotherapy planning. The dosing is 34 to 38.5 over 10 fractions delivered twice a day. The advantage of APBI is that it can be delivered over 1 week as opposed to 3 to 6 weeks with whole breast radiation. However, if the patient opts for APBI delivered via catheter, there may be additional delays as the patient would likely need to return for further surgery. In terms of outcomes, the 10-year cumulative incidence of breast cancer recurrence for patients treated with APBI was 4.6%. [43]  

Whole Breast Radiation

Whole breast radiotherapy (WBRT) is a well-studied technique employed in patients with early-stage breast cancer and continues to be the mainstay treatment for many patients. WBRT is delivered in the adjuvant setting either after breast-conserving surgery or after the completion of chemotherapy. The treatment technique is designed to cover all visible breast tissue on CT simulation. This can be safely planned and delivered using a 3D conformal plan. The ipsilateral lung and heart doses are the most important to consider when planning these cases. Dosing varies from 40.05 to 50.4 Gy in 15 to 25 fractions. The 10-year ipsilateral breast recurrence rate in these patients is approximately 3.9%. [43]

An additional radiation dose, a boost, may be given to the surgical cavity upon completion of whole breast radiation. Several randomized trials have demonstrated an improvement with local control. Early-stage breast cancer patients who received a 10 Gy boost to the surgical cavity after whole breast radiation had a 5-year local recurrence rate of 3.6% compared to 4.5% without a boost. The EORTC demonstrated a 10-year local control rate of 6% versus 10% without a boost. [44]  The benefit of a radiation boost appears to be confined to younger women aged <60 years. [44]  The dosing ranges from 10 to 16 Gy. The boost is not without a cost, as there is a risk of breast fibrosis that may impact cosmesis. The EORTC trial found a 4.4% rate of severe fibrosis in patients receiving a boost compared to 1.6%. [44]

Post-Mastectomy Radiation

Post-mastectomy radiation   (PMRT) is indicated in patients with nodal disease after axillary staging, positive margins, and in patients with primary breast tumors >5 cm. PMRT may also be considered in patients with high-risk pathologic features, including central or medial tumors ≥2 cm with either lymphovascular invasion, grade 3, or hormone receptor-negative. Coverage includes the chest wall with or without regional lymphatics. PMRT has been extensively studied in several prospective trials. The Danish 82bc trials investigated the benefit of PMRT in premenopausal and postmenopausal high-risk patients (ie, >5 cm, locally invasive, or node-positive). The study demonstrated long-term breast cancer mortality, locoregional recurrence, and overall survival benefits. [45] The 30-year follow-up data continues to show overall survival (19% versus 14%), breast cancer mortality (56% versus 67%), and locoregional recurrence (9% versus 37%) benefits. [45]

Comprehensive Nodal Irradiation

Comprehensive nodal radiation (CNI) covers all lymphatics draining the breast and chest wall, which consists of the levels I to III axilla, supraclavicular nodes, and internal mammary nodes. CNI can be incorporated into WBRT or PMRT and is indicated in node-positive patients, either from a sentinel node biopsy or axillary dissection. In patients undergoing an axillary dissection, the radiotherapy typically includes undissected areas and areas at risk for nodal involvement. CNI is technically more challenging than WBRT alone, requiring additional fields (ie, 3 or 4 field plans). CNI also increases the dose to uninvolved structures such as the lungs and heart. Meeting heart constraints may become especially challenging when treating the left breast. Certain techniques such as deep inspiratory breath hold (DIBH) or intensity-modulated radiation therapy (IMRT) may be helpful in these circumstances to minimize the amount of dose received by these structures. CNI has been prospectively compared to axillary dissections in patients with 1 to 3 nodes positive and was found to have similar rates of axillary control (0.93% versus 1.82%). [46]  In addition, CNI has also been shown to improve 10-year disease-free survival (77% versus 82%) without an improvement in overall survival in high-risk patients. [47]  Using CNI may also increase the risk of lymphedema as the regional lymphatics are radiated, making it more difficult to drain the breast and upper extremity. The additional dose to the lung may also increase the risk of radiation pneumonitis. 

Intensity-Modulated Radiation Therapy

Breast intensity-modulated radiation therapy (IMRT) may be used as an alternative to conventional 3D planning in certain circumstances, such as failure to meet heart dose constraints, which is common, especially in patients with left-sided disease. Several prospective randomized trials have compared 3D or 2D planning to IMRT. They have consistently demonstrated that grade 2 or higher radiation dermatitis was significantly lower with IMRT than with 3D. [48] [49] No differences in recurrence or survival were noted. 

Radiation Therapy Complications

Cardiac toxicity

The risk of major coronary events as a long-term complication of breast irradiation has been well documented. Exposure of the coronary arteries may lead to accelerated atherosclerosis of the vessel, resulting in significant coronary events years after radiotherapy. A population case-control study demonstrated that the risk increases linearly with the dose to the heart, increasing the relative risk by 7.4% per gray without an apparent threshold. [50]  Women with preexisting cardiac risk factors may have an even higher risk. [50]

Pneumonitis 

The development of radiation pneumonitis in patients receiving adjuvant radiotherapy for breast cancer ranges from 0.8% to 2.9%. [51]  Radiation pneumonitis has been documented in patients up to 1-year post-radiation and can require steroid treatment, oxygen therapy, and, in severe cases, intubation. The risk of pneumonitis increases with the volume of lung irradiated. Patients receiving comprehensive nodal RT are known to have higher rates of pneumonitis. The MA.20 study reported pneumonitis in 1.2% of their patients receiving regional nodal RT versus 0.2% in those treated to the breast only. [47]  Concurrent use of taxanes such as paclitaxel, common in modern breast cancer chemotherapy regimens, may substantially increase the risk of pneumonitis in patients receiving radiation. [52]  The most effective preventative measure is meticulous radiation planning and adherence to published lung dose constraints.

Breast fibrosis

Fibrotic changes in the breast are relatively common among patients receiving adjuvant radiotherapy. Onset is typically 4 to 12 months posttreatment, and the symptoms include breast shrinkage, hardening, pain, and poor wound healing. These changes can significantly affect cosmesis. The incidence in the literature ranges from 10% to 15%. [53]  However, this risk of moderate to severe fibrosis may be influenced by several risk factors such as whole breast radiation dose, beam energy, dose heterogeneity, boost to the surgical cavity, and chemotherapy. A nomogram was developed using the data from the "Boost Versus No Boost" EORTC 22881-10882 trial to predict the risk of moderate to severe fibrosis in patients receiving whole breast radiation. [54]  Preventative measures included weighing the risks and benefits of a breast boost, lowering beam energies, and limiting hot spots to <107% of the prescribed dose. In addition, patients at high risk for fibrosis may also take pentoxifylline with vitamin E for 6 months after radiation. This regimen has been shown in small randomized trials to reduce the risk of radiation fibrosis measured by a tissue compliance meter. [55]  Unfortunately, once a patient has developed breast fibrosis, these changes are mostly irreversible. Management of patients with breast fibrosis consists mainly of symptomatic treatment, including NSAIDs, SNRIs, and anticonvulsants such as gabapentin.

Progressive swelling of the upper extremity may occur in patients treated 6 months after radiation. The patient may notice increasing arm girth, swelling, heaviness, poor wound healing, and infection. The risk of developing lymphedema depends on the disruption to the regional lymphatics. The risk factors include the number of lymph nodes removed, body mass index, and amount of irradiated lymphatics. [56]  A nomogram developed by Gross et al in 2019 may help quantify this risk. [56]  Patients undergoing a sentinel node biopsy have a 5.6% risk of developing lymphedema compared with a 19.9% risk in those undergoing a full axillary dissection. [57]  The AMAROS trial had a 5-year lymphedema rate of 25% in patients receiving an axillary dissection versus 12% in those receiving regional nodal radiation alone. [58] Patients receiving axillary dissection and regional nodal RT would be at the highest risk of developing lymphedema. Evidence for prevention is sparse but includes weight-bearing exercise and maintaining appropriate body weight. Patients with lymphedema may be managed with fitted compression garments, arm elevation, and exercise. 

Brachial plexopathy

The brachial plexus trunks may be exposed to radiation doses in patients requiring regional nodal radiation. Symptoms include hand and arm paresthesia, weakness, and pain in the affected arm and shoulder. Onset is typically 8 to 12 months after treatment. Fortunately, this rare complication only affects approximately 1% of all patients. The risk may be increased in patients who have received chemotherapy or doses of radiation exceeding 50 Gy. [59]   Primary prevention consists of   limiting radiation doses to <50 Gy. Patients with brachial plexopathy may be managed with gabapentin and physical therapy.

Rib fracture

Rib fractures are another rare complication of breast radiotherapy, ranging from 0.3% to 1.8% of patients. [59] [60]  The median time to onset is approximately 12 months. The risk is associated with lower energies and higher doses of radiation. Treatment is generally conservative. 

Secondary malignancy

Radiotherapy can induce DNA damage in both cancerous as well as normal tissues, which can lead to the development of radiation-induced malignancies years after treatment. Large meta-analyses have shown that patients receiving radiotherapy for breast cancer have an increased risk of non-breast cancers, including sarcomas, lung, and esophageal cancers. [61]  However, the absolute risk of developing a secondary malignancy is low at 1% to 2% at 10 years. [62]  Risk factors include age, gender, radiation field size, and radiation dose. [63]  

• Medical Oncology

Chemotherapy, hormone therapy, immunotherapy, and targeted therapy are the systemic therapies used in breast cancer management and are described below.

Cytotoxic Chemotherapy

Cytotoxic chemotherapy is used in the neoadjuvant and adjuvant setting. Chemotherapy is most effective in high-grade, poorly differentiated tumors that have a high cell turnover rate, such as triple-negative and HER2-positive tumors. The chemotherapy regimen depends on tumor characteristics, the patient's ability to tolerate chemotherapy, and the degree of potential benefit. [64]

Adjuvant chemotherapy is associated with improved overall survival, disease-free survival, and reduced local recurrence. [65] Cyclophosphamide, methotrexate, and 5-fluorouracil (CMF) combination was one of the early regimens used in the adjuvant treatment of breast cancer. More modern regimens use anthracyclines (eg, doxorubicin or epirubicin) and taxanes in regimens such as TAC (ie, docetaxel, adriamycin, and cyclophosphamide). Adjuvant chemotherapy is recommended for most patients with triple-negative and HER2-positive tumors that are >T1 stage. Treatment recommendations for HR-positive tumors are more nuanced and are guided by commercially available genetic analysis kits (eg, Oncotype Dx, Mammaprint). [66] [67]  Neoadjuvant chemotherapy is increasingly used for triple-negative and HER2-positive tumors, which leads to increased compliance and tumor downstaging and allows assessment of the tumor's biological response. [68] [69]  

Targeted Therapy

• Anti-HER2 therapy is indicated in 17% of breast cancers that overproduce the growth-promoting protein HER2/neu. Trastuzumab, the first approved drug, is a monoclonal antibody directly targeting the HER2 protein. It reduces the risk of recurrence and death by 52% and 33%, respectively, if combined with chemotherapy in HER2-positive early breast cancer if compared to chemotherapy alone. [70] [71]  More recent data advocates for dual HER2 blockade with trastuzumab and pertuzumab, which improves response rates. 
• PARP inhibitors (eg, olaparib and talazoparib) are monoclonal antibodies that prevent the activation of PARP, which are DNA repair enzymes. They are indicated in the adjuvant setting in individuals with  BRCA mutations and HER2-negative breast cancer. [72]  
• CDK4/6 inhibitors (palbociclib, target the CDK4/6 proteins, which promote cell division. Inhibition of this pathway promotes tumor lytic activity in HR-positive HER2-negative tumors. They are indicated in metastatic HR-positive, HER2-negative tumors and selected patients with early HR-positive tumors. [73]
• Immune checkpoint inhibitors (pembrolizumab, nivolumab) act on the PD-1, PD-L1 pathway to activate the host immune system. They are currently indicated in triple-negative breast cancer and the metastatic setting. [74]

Hormonal Treatment

Selective estrogen receptor modulators (eg, tamoxifen) or aromatase inhibitors (eg, exemestane and letrozole) are indicated in HR-positive breast cancers. Estrogen receptor modulators are especially indicated in premenopausal women, while both drugs can be used postmenopausal. Hormonal therapy reduces the risk of breast cancer recurrence and mortality and is indicated from 5 to 10 years. [69] [31] Premenopausal women may also benefit from oophorectomy or chemical suppression of the ovaries (eg, GnRH antagonists), which are the primary source of estrogen before menopause. [75]

Breast cancer staging is determined clinically and histologically. Clinical breast cancer staging is based on physical examination and imaging studies before treatment. Histopathologic breast cancer staging is determined by pathologic examination of the primary tumor and regional lymph nodes after definitive surgical treatment. Staging is performed to group patients into risk categories that define prognosis and guide treatment recommendations for patients with a similar prognosis. Breast cancer is classified with the TNM classification system, which groups patients into 4 stage categories based on the primary tumor size (T), the regional lymph nodes status (N), and if there is any distant metastasis (M). [30] The most widely used TNM system is that of the American Joint Committee on Cancer.

Primary Tumor (T) 

Tis: Carcinoma in-situ, Paget Disease With no Tumor

• T1 : <2 cmT1a: 0.1 to 0.5 cmT1b: 0.5 to 1.0 cmT1c: 1.0 to 2.0 cm
• T2 : 2 to 5 cm
• T3 : >5 cm
• T4 T4a: Chest wall involvementT4b: Skin involvementT4c: Both 4a and 4bT4d: Inflammatory ca

Regional Lymph Nodes (N)

• N1 : Mobile ipsilateral axillary nodes
• N2 : Fixed/matted ipsilateral axillary nodes
• N3 N3a: Ipsilateral infraclavicular nodesN3b: Ipsilateral mammary nodesN3c: Ipsilateral supraclavicular nodes

Distant Metastases (M)

M1 : Distant metastases

Breast Cancer Staging

Stage 0 comprises ductal carcinoma in situ (DCIS) and noninvasive breast cancer. Early invasive cancer includes stages I, IIa, and IIb.  Stages IIIa, IIIb, and IIIc primarily involve locally advanced disease. Stage IV is all metastatic breast cancer. [68] (see Image.  Breast Cancer Metastasis Sites)

The prognosis of breast cancer depends on the stage. Stage 0 and Stage I both have a 100% 5-year survival rate. The 5-year survival rate of Stage II and Stage III breast cancer is about 93% and 72%, respectively. When the disease spreads systemically, its prognosis worsens dramatically. Only 22% of Stage IV breast cancer patients will survive their next 5 years. [30]

• Complications

Complications can arise from the treatment, whether chemotherapy, radiation, hormonal therapy, or surgery.

• Cosmetic issues
• Permanent scarring
• Alteration or loss of sensation in the chest area and reconstructed breasts

Chemotherapy

• Nausea/vomiting and diarrhea
• Memory loss "chemo brain"
• Vaginal dryness
• Menopausal symptoms/fertility issues

Hormonal Therapy

• Hot flashes
• Vaginal discharge dryness
• Impotence in males with breast cancer
• Pain and skin changes
• Chronic heart and lung issues
• Neuropathyy  [76] [30]
• Deterrence and Patient Education

Breast cancer is the most commonly diagnosed cancer in women. Addressing the environmental and personal factors that increase the risk of breast cancer is vital in reducing breast cancer incidence. Screening helps detect premalignant lesions and breast cancer before it is clinically evident. Early detection leads to improved survival. Identifying patients at high risk for breast cancer is also crucial, as these individuals need to be monitored closely. Mammography, ultrasound, and MRI may be used for screening and diagnosis. A biopsy with histopathology and molecular markers should be performed on all patients. Early breast cancer is typically treated with breast conservation surgery, radiation, chemotherapy, or hormonal therapy. More advanced tumors require a mix of different modalities to obtain the best outcome. Long-term surveillance and compliance with therapy help improve survival. 

• Enhancing Healthcare Team Outcomes

Patient-centered care for individuals with breast requires collaboration among healthcare professionals, including physicians, advanced practice clinicians, nurses, pharmacists, and others. These neoplasms are often discovered during screening. The necessary skills involve interpreting radiological findings, identifying potential complications, effectively communicating these findings to the patient and their care team, and understanding the intricacies of breasts. Medical oncology, interventional radiology, pathology, general surgery, plastic surgery, and primary care practitioners typically play a role in coordinating and delivering care to patients with breast cancer. The entire healthcare team also plays a crucial role in ensuring that patients continue on surveillance pathways.

• Review Questions
• Access free multiple choice questions on this topic.
• Comment on this article.

Breast Cancer Metastasis Sites Medical Gallery of Mikael Häggström, Public Domain, via Wikimedia Commons 

Breast Mammogram. A mammographic view of the left breast demonstrates skin thickening, diffusely increased breast density, and malignant-type calcifications in this patient with biopsy-proven inflammatory breast cancer. Contributed by H Barazi, (more...)

Breast Cancer Risk Factors 5. Kerlikowske K, Gard CC, Tice JA, et al. for the Breast Cancer Surveillance Consortium. Risk factors that increase risk of estrogen receptor-positive and -negative breast cancer. J Natl Cancer Inst. 109(5): djw276, 2016.

Breast Estrogen Receptor Staining Contributed by Fabiola Farci, MD

Breast Cancer Axillary Lymphadenopathy Contributed by Sunil Munakomi, MD

Breast Cancer Fine Needle Aspiration Cytology Contributed by Sunil Munakomi, MD

Clinical Signs of Breast Carcinoma Contributed by Sunil Munakomi, MD

Pleomorphic Lobular Breast Carcinoma Contributed by Emma Gregory

Invasive Ductal Carcinoma. Histological slide of high-grade ductal carcinoma in situ with invasive ductal carcinoma (×10). The left side of the image shows a sheet of cells with pleomorphic nuclei, arranged in tubules, infiltrating into (more...)

Disclosure: Gopal Menon declares no relevant financial relationships with ineligible companies.

Disclosure: Fadi Alkabban declares no relevant financial relationships with ineligible companies.

Disclosure: Troy Ferguson declares no relevant financial relationships with ineligible companies.

This book is distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ), which permits others to distribute the work, provided that the article is not altered or used commercially. You are not required to obtain permission to distribute this article, provided that you credit the author and journal.

• Cite this Page Menon G, Alkabban FM, Ferguson T. Breast Cancer. [Updated 2024 Feb 25]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

In this Page

Bulk download.

• Bulk download StatPearls data from FTP

Related information

• PMC PubMed Central citations
• PubMed Links to PubMed

Similar articles in PubMed

• Cancer screening with digital mammography for women at average risk for breast cancer, magnetic resonance imaging (MRI) for women at high risk: an evidence-based analysis. [Ont Health Technol Assess Ser....] Cancer screening with digital mammography for women at average risk for breast cancer, magnetic resonance imaging (MRI) for women at high risk: an evidence-based analysis. Medical Advisory Secretariat. Ont Health Technol Assess Ser. 2010; 10(3):1-55. Epub 2010 Mar 1.
• Breast cancers originating from the major lactiferous ducts and the process of neoductgenesis: Ductal Adenocarcinoma of the Breast, DAB. [Eur J Radiol. 2022] Breast cancers originating from the major lactiferous ducts and the process of neoductgenesis: Ductal Adenocarcinoma of the Breast, DAB. Tabár L, Dean PB, Lee Tucker F, Yen AM, Chang RW, Hsu CY, Smith RA, Duffy SW, Chen TH. Eur J Radiol. 2022 Aug; 153:110363. Epub 2022 May 18.
• Toker cells of the nipple are commonly associated with underlying sebaceous glands but not with lactiferous ducts. [J Clin Pathol. 2014] Toker cells of the nipple are commonly associated with underlying sebaceous glands but not with lactiferous ducts. Saeed D, Shousha S. J Clin Pathol. 2014 Nov; 67(11):1010-2. Epub 2014 Aug 1.
• Review Lesions of the Nipple. [Surg Pathol Clin. 2009] Review Lesions of the Nipple. Dillon DA, Lester SC. Surg Pathol Clin. 2009 Jun; 2(2):391-412. Epub 2009 Jun 2.
• Review Supplemental Screening for Breast Cancer in Women With Dense Breasts: A Systematic Review for the U.S. Preventive Service Task Force [ 2016] Review Supplemental Screening for Breast Cancer in Women With Dense Breasts: A Systematic Review for the U.S. Preventive Service Task Force Melnikow J, Fenton JJ, Whitlock EP, Miglioretti DL, Weyrich MS, Thompson JH, Shah K. 2016 Jan

Recent Activity

• Breast Cancer - StatPearls Breast Cancer - StatPearls

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Connect with NLM

National Library of Medicine 8600 Rockville Pike Bethesda, MD 20894

Web Policies FOIA HHS Vulnerability Disclosure

Help Accessibility Careers

IU research targets debilitating side effects for Black breast cancer patients

Researchers collaborate with local patient advocates in trial design and patient recruitment

Breast cancer remains the most common cancer diagnosis in women in the United States, and enduring the often debilitating cancer treatments can become as harrowing as the diagnosis itself.

That’s especially true for Black women, who face disparate outcomes in breast cancer and are more likely to experience neuropathy. A side effect from chemotherapy that causes numbness, tingling and pain in the hands and feet, neuropathy is the primary reason patients cannot complete prescribed chemotherapy, which compromises cure rates.

Researchers at the Indiana University Melvin and Bren Simon Comprehensive Cancer Center are leading the way to improving quality of life and curative chemotherapy doses for Black patients with breast cancer — with help from the patients themselves.

In a clinical study led by IU physician-scientist Dr. Bryan P. Schneider , researchers have discovered that Black patients with breast cancer experience less neuropathy and less reductions in their chemotherapy dose when treated with a chemotherapy drug called docetaxel. These findings represent an important shift in knowledge about a patient population that has historically been underrepresented in breast cancer research.

Researchers collaborated with Black patient advocates in the trial design and patient recruitment, specifically with guidance from the Indianapolis-based organization Pink-4-Ever Ending Disparities . Focus groups helped inform the study’s design, recruitment and educational materials, which included a social media campaign that featured Black women with breast cancer.

“The EAZ171 clinical study was built off about a decade of work at IU, including a large breast cancer trial that showed that Black patients or patients of African descent were markedly more likely to get toxicity from chemotherapy, and particularly taxane-induced peripheral neuropathy,” said Schneider, the Vera Bradley Professor of Oncology at the IU School of Medicine.

Taxane-based chemotherapies are the primary curative therapy for breast cancer, but they can lead to taxane-induced peripheral neuropathy. Neuropathy can be irreversible and impact a cancer survivor’s life forever.

“As we dug a little deeper, we found that this side effect also caused physicians to have to reduce the chemotherapy doses, which ultimately led to inferior survival outcomes specifically for Black patients,” Schneider said. “Given the disparities that we see with Black patients in terms of survival and toxicity, we felt compelled to address this head-on.”

The study is among the first National Cancer Institute cooperative group trials to focus enrollment solely on a minority population that has disparate outcomes. The trial enrolled only women who self-identified as Black or African American. IU physician-scientist Dr. Tarah J. Ballinger presented results from the study in June at the 2024 American Society of Clinical Oncology Annual Meeting.

“The most important implication from this study for Black women with breast cancer is that we found that a specific chemotherapy drug, docetaxel, was associated with significantly less neuropathy compared to a drug called paclitaxel,” said Ballinger, the Vera Bradley Foundation Scholar in Breast Cancer Research at the IU School of Medicine. “We saw less neuropathy, and we saw less dose reductions of life-saving therapy.”

Previously, paclitaxel has been the standard of care for breast cancer, but Ballinger said this study indicates that docetaxel may be the preferred drug specifically for Black women.

“Moving forward, this is potentially a way that we can improve disparities in breast cancer outcomes,” Ballinger said.

When Saysha Wright was diagnosed with breast cancer in 2019, she was raising two young children and getting ready to start nursing school. Wright was among the first women to enroll in the trial, hoping she could make a difference for other Black women facing the disease.

“They told me that the type of chemotherapy I was getting affects African American women in a negative way,” she said. “That’s what made me want to be a part of the trial; I wanted to help other women.”

Wright’s treatment-induced neuropathy appeared a couple of weeks after she began taxane-based chemotherapy and continued about three weeks after her treatment ended.

“I just thank God that it didn’t last forever,” she said.

Wright described it as the temporary feeling of tingling and numbness when a body part falls asleep, except with neuropathy the feeling doesn’t go away.

“I experienced it in my fingers and my toes, like I couldn’t feel when I tried to braid my baby’s hair or button up her shirt,” she said. “I had no feeling in my fingers.”

Today, Wright is busy keeping up with her son, who plays football, and her daughter, who likes to dance. After her treatment ended, she started nursing school to become a registered nurse. She said her personal experience with cancer and her caring medical team, including Ballinger, have made her a better nurse.

Schneider and Ballinger are investigators at the Vera Bradley Foundation Center for Breast Cancer Research at the IU Simon Comprehensive Cancer Center. For Schneider, the study is a continuation of IU breast cancer research focused on personalized medicine.

“The idea here is really thinking about identifying the right drug for the right patient at the right time, and really embracing the idea that not only do we want patients to live long and to be cured, we want them to live well,” he said.

Wright said it feels amazing to know that her participation in the clinical trial has contributed to a new understanding of how to improve breast cancer treatments for Black women.

“All I wanted to do was to potentially help women who might have to go through what I went through,” Wright said. “I’m really honored that they are making progress because neuropathy is not fun, especially for those who have to experience it forever.”

Candace Gwaltney

Filed under:, more stories.

IU-led research project aims to improve speed, energy efficiency of AI language training

3 faculty awarded IU grants to move inventions toward the marketplace

Social media.

• Facebook for IU
• Linkedin for IU
• Twitter for IU
• Instagram for IU
• Youtube for IU

Additional resources

Indiana university.

• About Email at IU
• People Directory
• Non-discrimination Notice
• Email Newsletters & Press Releases

• Alzheimer's disease & dementia
• Arthritis & Rheumatism
• Attention deficit disorders
• Autism spectrum disorders
• Biomedical technology
• Diseases, Conditions, Syndromes
• Endocrinology & Metabolism
• Gastroenterology
• Gerontology & Geriatrics
• Health informatics
• Inflammatory disorders
• Medical economics
• Medical research
• Medications
• Neuroscience
• Obstetrics & gynaecology
• Oncology & Cancer
• Ophthalmology
• Overweight & Obesity
• Parkinson's & Movement disorders
• Psychology & Psychiatry
• Radiology & Imaging
• Sleep disorders
• Sports medicine & Kinesiology
• Vaccination
• Breast cancer
• Cardiovascular disease
• Chronic obstructive pulmonary disease
• Colon cancer
• Coronary artery disease
• Heart attack
• Heart disease
• High blood pressure
• Kidney disease
• Lung cancer
• Multiple sclerosis
• Myocardial infarction
• Ovarian cancer
• Post traumatic stress disorder
• Rheumatoid arthritis
• Schizophrenia
• Skin cancer
• Type 2 diabetes
• Full List »

share this!

September 12, 2024

This article has been reviewed according to Science X's editorial process and policies . Editors have highlighted the following attributes while ensuring the content's credibility:

fact-checked

trusted source

Elle Macpherson says she refused chemotherapy after breast cancer diagnosis—here's what oncologists think

by University of Virginia

After being diagnosed with breast cancer seven years ago, Elle Macpherson made a controversial choice: She refused chemotherapy, the model has revealed in her new memoir, Elle: Life, Lessons, and Learning to Trust Yourself. Macpherson did undergo a lumpectomy—surgery to remove the malignant breast tissue—but she then went against the advice of 32 doctors and instead followed "an intuitive, heart-led, holistic approach," the 60-year-old told Australian Women's Weekly. Macpherson says she's now considered in remission.

Coming up with a cancer treatment plan is a highly personal process that requires weighing the risks and benefits of treatments. The decision to use alternative or "holistic" therapies worries doctors, but they point out that it's complicated.

On the one hand, these treatments are unproven, and choosing them instead of chemotherapy and other evidence-based therapies could put a patient's life in jeopardy. On the other hand, they say, there are some people who won't get much benefit from chemotherapy, and many at least feel better if they incorporate complementary medicine into their cancer treatment plan, alongside proven therapies.

How often do people decline chemotherapy?

It's rare, but not unheard of—and may be becoming more common. Late Apple CEO Steve Jobs declined standard treatment for pancreatic cancer , choosing dietary supplements , acupuncture and other alternative treatments instead (a decision his biographer, Walter Isaacson, said Jobs later regretted ). Actress and singer Suzanne Somers also decided against conventional treatment during her battle with breast cancer ; she died from the disease in 2023.

Less than 1% of patients with any type of cancer refuse treatment altogether, according to one study. But somewhere between 3% and 19% refuse some or all chemotherapy, the research found. A 2012 study found that just over 1% of people with advanced (stage III or IV) breast cancer refuse treatment.

"Some people feel very strongly that if there's not a huge benefit, they're not going to take treatment that's going to make them feel bad," including chemotherapy, Dr. Eric Winer, Yale Cancer Center director and president of Smilow Cancer Hospital, tells Yahoo Life. Aside from the side effects, others cite distrust in the treatment and medical system as their reasons for forgoing treatment.

What doctors think about forgoing chemotherapy

That's a really thorny question, oncologists say. "I get nervous that people will read [about decisions like Macpherson's] and assume it applies to their scenario," Dr. Lynn Dengel, a University of Virginia surgical oncologist, tells Yahoo Life.

"Having breast cancer is like having a car: One person has a Mack Truck, and another has a MINI Cooper"—meaning there are many different types and stages of cancers in general, and breast cancers specifically. The appropriate treatment plan is as individual as the person and the cancer, Dengel says.

Broadly speaking, the data is clear: People who choose alternative therapies as their first-line treatments are nearly five times more likely to die within five years than those who undergo standard treatment (often including chemotherapy) immediately, according to a large 2017 study of people with breast, lung and colorectal cancers.

Still, there are some exceptions. "Breast cancer is a disease that can recur many, many years later"—as Somers's did, two decades later—"but chemotherapy only prevents the early recurrences," says Winer. Moreover, some types are more likely to come back than others, so doctors and patients need to weigh the risks and benefits together, he explains.

What's the difference between alternative complementary treatments?

While doctors discourage using alternative treatments such as acupuncture, nutrition and massage in place of standard-of-care chemotherapy, that doesn't mean they're against using these therapies in addition to whatever medical treatment your provider recommends. These are called complementary treatments.

However, natural oils , foods and other treatments commonly referred to as "holistic" have never been proven effective at combating, much less curing, cancer. (You can read about some of these false claims here.) But many holistic treatments can help to reduce symptoms of cancer or side effects of treatments, including chemotherapy.

"I very often have patients using complementary medicine along with standard therapy, and they often have great results with that," Dengel says. "It's a very positive thing when we incorporate non-Western medicine into a treatment plan, but it's rare that we see patients declining standard care."

Why it's important to talk to your doctor about complementary medicine

It's not uncommon for people to use complementary medicine alongside standard medical treatments such as chemotherapy. One study found that a third of cancer patients used at least one form of complementary medicine, with herbal supplements being the most common.

The problem, experts say, is that 29% of these patients, according to the study, don't tell their doctors. That's potentially dangerous, because a patient could be unwittingly taking a supplement that doesn't mix well with their other treatments or has side effects they don't know about.

If you want to try complementary medicines, that's OK, say experts—but keep your doctor in the loop, even if that means you have to find one who won't be judgmental. "When a patient says, "I might not want to do [standard treatment]," as a doctor, you should not turn that person away, but continue to have a conversation and make sure they understand everything" rather than "get on a high horse," says Winer.

Dengel agrees. "Recognize that many of us [doctors] are open-minded and believe complementary medicine has a lot of benefits," she says. "If someone is not going to follow the standard of care, I'm still happy to maintain a relationship with patients and help them make the best decision at each time point" along their cancer journey.

Explore further

Feedback to editors

Rapid blood diagnostic test developed for amyotrophic lateral sclerosis

2 hours ago

Automated insulin delivery technology helps marathon runners with type 1 diabetes

4 hours ago

Next-gen gene therapy vector for muscle diseases uses AI predictive methodology to improve efficacy and safety

5 hours ago

Gut reaction: Low levels of manganese can aggravate inflammatory bowel disease

A novel neural explanation for choking under pressure

Novel technology enabling sampling of liquids in confined spaces could aid early detection of cancer

Mouse study finds sex-based differences in how brains handle threats

6 hours ago

A new biomarker makes it easier to distinguish between Alzheimer's and primary tauopathy

7 hours ago

Supported youth become supportive adults, researchers find

8 hours ago

Exposure to air pollution during pregnancy increases postpartum depression risk for at least three years, study finds

Related stories, complementary medicine for cancer can decrease survival.

Jul 19, 2018

Most cancer patients want access to complementary therapies before treatment

Nov 15, 2022

Survey says the majority of cancer patients are interested in complementary therapies

Oct 12, 2023

Atezolizumab addition to chemotherapy after surgery does not improve survival for triple negative breast cancer: Study

Mar 19, 2024

Modifying chemotherapy treatment can make life better for older adults with cancer

Feb 18, 2024

Genetic test could guide use of cancer chemotherapy

Mar 2, 2023

Recommended for you

How the immune system fails as cancer arises

12 hours ago

Study identifies five key factors that predict response of cancer patients to immunotherapy

17 hours ago

Tumor-induced B cell changes reveal potential biomarker for treatment response in triple negative breast cancer

Clinical trials of new cancer drugs may inappropriately exclude people of African/Middle Eastern descent

Sep 11, 2024

Study shows shorter-course radiation better option for breast cancer patients than conventional schedule

New, rare type of small cell lung cancer identified

Let us know if there is a problem with our content.

Use this form if you have come across a typo, inaccuracy or would like to send an edit request for the content on this page. For general inquiries, please use our contact form . For general feedback, use the public comments section below (please adhere to guidelines ).

Please select the most appropriate category to facilitate processing of your request

Thank you for taking time to provide your feedback to the editors.

Your feedback is important to us. However, we do not guarantee individual replies due to the high volume of messages.

E-mail the story

Your email address is used only to let the recipient know who sent the email. Neither your address nor the recipient's address will be used for any other purpose. The information you enter will appear in your e-mail message and is not retained by Medical Xpress in any form.

Newsletter sign up

Get weekly and/or daily updates delivered to your inbox. You can unsubscribe at any time and we'll never share your details to third parties.

More information Privacy policy

Donate and enjoy an ad-free experience

We keep our content available to everyone. Consider supporting Science X's mission by getting a premium account.

E-mail newsletter

Research on Long Term Impacts of Proton and Photon Therapy Featured in NIH Intramural Blog

September 12, 2024 , by Maura Kate Costello, M.A.

There are several ways to use high-energy particles to kill cancer cells. IRP researchers are examining whether a particular form of radiation therapy may be a better option for children with cancer than the alternative.

The NIH blog,  I  Am Intramural , recently featured the Pediatric Proton and Photon Therapy Comparison Cohort , a DCEG study investigating the differences in impact of photon and proton radiation therapies on the risk of second cancers among survivors who underwent these treatments for pediatric cancers.

Historically, it has been difficult to study the long term impact on cancer risk from these therapies because the population of childhood cancer survivors with a second cancer is small. Cari Kitahara, Ph.D. , senior investigator in the Radiation Epidemiology Branch (REB), and lead investigator of the cohort, explained that this study was created to overcome this limitation by pooling together data from participating cancer centers. DCEG's Dosimetry Unit, led by Choonsik Lee, Ph.D. , senior investigator in REB, has also played a key role because they have developed the methods to calculate the amount of radiation absorbed by the tumor and surrounding tissues from both types of radiation therapy.

Read the I Am Intramural Blog  post, entitled, " Comparing Two Ways to Blast Tumors: IRP Study Is Examining the Long-Term Effects of Treatments for Children With Cancer. "

• Fellowships & Training
• Linkage Newsletter
• People in the News
• Research Highlights
• Research Led by Fellows