BRCA Mutations: What You Need to Know
- Jackie Lochridge
- Jul 31
- 3 min read
Cancer and BRCA Basics
Cancer is an ever-present enemy in modern life. It is estimated that in the United States alone, 2025 will see over 2 million diagnosed cases of cancer. Breast cancer is the second most common cancer in women (after skin cancer) and is second to lung cancer for cancer deaths in women. The average lifetime risk for a woman developing breast cancer is 1 in 8, and the risk for men is 1 in 176.
BReast CAncer genes 1 and 2 (BRCA1 and BRCA2) help repair damaged DNA. Everyone receives two copies of both BRCA1 and BRCA2, one from each parent. A harmful change to one of these copies increases risk of several cancers. The vast majority of people will inherit a harmful change to either BRCA1 or BRCA2 and will retain one normal copy (e.g. Sally inherits a change to BRCA1, but both copies of BRCA2 and one copy of BRCA1 are normal upon conception). A single unchanged copy is generally sufficient to maintain DNA repair function and keep cells from becoming cancerous. If the normal copy is altered after conception (the other BRCA1 copy from Sally's example above), DNA repair is compromised and cells can become cancerous.
How is BRCA Cancer Different?
An inherited BRCA1 mutation raises the likelihood of a woman developing breast cancer to over 60% before age 70. Women with BRCA mutations commonly develop cancer earlier in life, are more likely to develop another cancer, and are more likely to have triple-negative breast cancer (resulting in more challenging treatment) than women without a mutation. Men with a BRCA mutation are also more likely to develop breast cancer: 1.8%-7.1% of men with a BRCA2 mutation will develop breast cancer by age 70, compared to 0.1% of the general population. Other cancers with increased incidence related to BRCA mutations include: ovarian, pancreatic, and prostate cancers.
Testing and Treatment
As with all cancer, early detection and treatment is key to achieving the best possible outcome. Genetic testing can help your healthcare team assess your risk and plan for increased early screening and/or prevention through surgical or pharmaceutical means. Genetic testing is also important in family planning for those with family history of BRCA mutation.
Tailored options for treatment of early- and late-stage cancers and for maintenance therapy are now available specifically for patients with BRCA mutation. Clinical trials are being conducted to search for new ways of combating cancers associated with increased risk in the presence of BRCA mutation.
References
American Cancer Society. Key Statistics for Breast Cancer. American Cancer Society. Published January 12, 2024. https://www.cancer.org/cancer/types/breast-cancer/about/how-common-is-breast-cancer.html
National Cancer Institute. Cancer Statistics. National Cancer Institute. Published 2024. https://www.cancer.gov/about-cancer/understanding/statistics
National Cancer Institute. BRCA Mutations: Cancer Risk & Genetic Testing. National Cancer Institute. Published July 19, 2024. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
National Breast Cancer Foundation. BRCA: the Breast Cancer Gene - BRCA Mutations & Risks. National Breast Cancer Foundation. Published 2024. https://www.nationalbreastcancer.org/what-is-brca/
Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402. doi:https://doi.org/10.1001/jama.2017.7112
Breastcancer.org. Study Estimates Breast/Ovarian Cancer Risk by Age for Women with BRCA Mutations. Breastcancer.org. Published December 20, 2018. https://www.breastcancer.org/research-news/risk-estimates-by-age-for-brca-mutations
FORCE. Information for People with an Inherited BRCA1 Mutation. Information for People with an Inherited BRCA1 Mutation. https://www.facingourrisk.org/hereditary-cancer-genes-and-risk/BRCA1-risks-prevention-treatment
FORCE. Facing Our Risk of Cancer Empowered. BRCA2 Gene Mutations: Risk, Management and Treatment. Published 2024. https://www.facingourrisk.org/hereditary-cancer-genes-and-risk/BRCA2-risks-prevention-treatment
Clinicaltrials.gov. BRCA1 Mutation | Other terms: BRCA2 Mutation | Not yet recruiting, Recruiting Studies. Clinicaltrials.gov. Published 2025. Accessed July 3, 2025. https://clinicaltrials.gov/search?cond=BRCA1%20Mutation%20&term=BRCA2%20Mutation&aggFilters=status:not%20rec
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In memory of Patti Margeson
