As Breast Cancer Awareness Month begins, it’s important to recognize how genetic testing for BRCA1 and BRCA2 can identify those at higher risk for breast cancer. This early detection helps people take preventive steps and receive personalized treatments to improve their chances of successful outcomes. BRCA1 and BRCA2 (short for BReast CAncer genes) are responsible for repairing damaged DNA and preventing certain cancers. When these genes have mutations—changes or errors in the DNA sequence—they lose their ability to function properly, which significantly increases the risk of developing breast and ovarian cancers.

• BRCA1 mutations increase the risk of breast cancer up to 72% and ovarian cancer up to 44%. Breast cancers linked to BRCA1 are often triple-negative, which means they don’t have certain receptors like estrogen, progesterone, or HER2 (Human Epidermal Growth Factor Receptor 2). This makes them harder to treat because common hormone therapies can’t be used [1].

• BRCA2 mutations also raise the risk of breast cancer, up to 69%, but these cancers tend to be hormone receptor-positive, meaning they can be treated with hormone therapies. BRCA2 mutations are linked to a lower ovarian cancer risk, between 11% and 17%, but are associated with higher risks of other cancers, including prostate, pancreatic, and male breast cancer [1].

Both mutations can be inherited from either parent, and according to Connecticut State’s Department of Health, about 1 in 300 to 500 women in the U.S. carry a BRCA mutation [2]. Men with BRCA mutations are less likely to develop breast cancer than women, but they still face an elevated risk compared to the general population, particularly with BRCA2 mutations. Men with these mutations are also at a higher risk for prostate and pancreatic cancers [3].

Genetic Testing and Proactive Health Decisions

Genetic testing is often recommended for people with a strong family history of breast, ovarian, or related cancers. The CDC advises discussing family history with a healthcare provider, who can help determine whether genetic testing or counseling is appropriate [4].

Knowing your BRCA status allows individuals to take proactive steps, like opting for earlier or more frequent cancer screenings (mammograms, MRIs), or considering preventive surgeries to reduce their cancer risk. While having a BRCA mutation doesn’t mean cancer is certain, it provides valuable information to help make informed health decisions. For more information on genetic testing, visit Cleveland Clinic – Genetic Testing for Cancer Risk

[1] https://www.ncbi.nlm.nih.gov/books/NBK1247/

[2] portal.ct.gov/dph/public-health-genomics/genetic-testing-for-hereditary-breast-ovarian-cancer-what-you-should-know

[3] https://www.pennmedicine.org/news/news-blog/2023/may/men-with-brca

[4] https://www.cdc.gov/breast-ovarian-cancer-hereditary/testing/index.html