In 2013, celebrity Angelina Jolie stunned the world with her New York Times op-ed piece revealing the voluntary removal of both of her breasts (a double mastectomy), and outlining why and how she made the shocking and life-altering decision. Suddenly the national spotlight was on the BRCA gene mutation, at the time, a little-known but significant risk factor for breast cancer and the reason why Jolie ultimately went through with it.
What is the BRCA Gene?
BRCA is short for BReast CAncer and the acronym can refer to both or either of the BRCA1 and BRCA2 genes. There are other genes that also influence breast cancer diagnosis rates, but the BRCA genes are more common and affect risk levelsthe most. It’s a misconception that those affected “carry the BRCA gene” since everyone carries a set of BRCA1 and BRCA2 genes, one of each inherited from each parent. People are considered “BRCA positive” when either of their BRCA genes has mutated into a harmful variant. According to the BRCA Exchange, a multi-national data-pooling research project, there are over a thousand variants of the BRCA genes, but many are benign.
Who is More Likely To Have A Mutated BRCA Gene?
Anyone, including men, can be BRCA-positive, however if you have a strong family history of breast or ovarian cancer or if you are of Ashkenazi Jewish descent, you are more likely to carry the mutated gene. Those with a parent who are BRCA-positive have a 50% chance of inheriting the mutated gene.
How Does the BRCA Gene Affect Your Risk?
Having a mutated BRCA1 or BRCA2 gene increases your life-time risk of breast cancer significantly. Average women have a 12% chance of being diagnosed with breast cancer during their lifetime, but BRCA-positive women have a 70% chance of being diagnosed. For BRCA-positive Angelina Jolie, whose mother died of breast cancer in her 50s, these odds are what ultimately drove her decision to have a double mastectomy.
Women with the mutated gene have an 11-44% chance of developing ovarian cancer, as opposed to the 1.2% chance of average women. BRCA-positive women are more likely to be diagnosed with breast cancer at an earlier age, are more likely to have breast cancer in both breasts and BRCA1-positive women are more likely to be diagnosed with the harder-to-treat triple-negative breast cancer. Men with the BRCA mutation are at higher risk for male breast cancer and prostate cancer, and both men and women have higher rates of pancreatic cancer.
BRCA Gene Testing
Testing is available to determine whether or not you are BRCA-positive. In some cases, especially when there is an extensive family history of breast or ovarian cancer or if you are at higher risk for a BRCA mutation, genetic testing results can be helpful in determining a prevention or breast cancer treatment plan. Talk to your doctor if testing is right for you or seek out a genetic counselor who can guide you through the process and explain the results to you and your family.
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Comprehensive BRCA gene testing can is not a cheap out-of-pocket cancer care expense and is often not covered by insurance. While the genetic-testing company 23andMe does offer inexpensive FDA-approved testing directly to the public, it is extremely limited, only testing for 3 of the over 1000 BRCA gene variants.
The Bottom Line
BRCA gene mutations substantially increase your risk of a breast cancer diagnosis. While knowing your risk levels is important to developing a cancer screening plan, remember most women over 40 should be doing a regular mammogram and breast self-exam regardless of their genes. Staying healthy by avoiding alcohol, getting regular physical exercise, and managing your weight are proactive ways you can reduce your risk levels. You can take action today on your health without a gene test.
Less Stress for Women Who Know Their Genetic Risk for Breast Cancer
If you have questions about your BRCA-positive diagnosis or need help understanding your testing options or results, feel free to contact us. The volunteers and patient navigators at SHAREing & CAREing are here to help you.
Sources
- “Genetic Counseling and Testing for Breast Cancer Risk,” American Cancer Society
- “Breast Cancer Risk Factors You Cannot Change,” American Cancer Society
- “BRCA Gene Mutations: Cancer Risk and Genetic Testing,” National Cancer Institute
- “Association Between BRCA Status and Triple-Negative Breast Cancer: A Meta-Analysis,” Frontiers in Pharmacology, 2018
