What Is a BRCA Mutation?

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Recently, Angelina Jolie revealed her decision to undergo a preventative double mastectomy after learning of her BRCA gene mutation. At age 21, I elected to have the same prophylactic surgery because of my own BRCA mutation.

What is a BRCA mutation exactly? The BRCA genes are tumor suppressor genes of the reproductive tissue; they monitor cell division. A mutation in either the BRCA1 or BRCA2 genes results in an increased risk of breast and ovarian cancer.

Angelina Jolie’s mother passed away at age 56 from ovarian cancer; by the time my mother was 58, she had been diagnosed with breast cancer twice. While not every woman who carries a BRCA mutation will get cancer, the chances are high that she will.

The good news is that a BRCA mutation can be detected through a simple blood test. If you have a strong family history of breast or ovarian cancer—especially cancers occurring before age 51—you should consider testing. Ashkenazi Jewish women with first-degree relatives diagnosed with breast or ovarian cancer should also consider testing—there is a specific BRCA2 mutation that is more common in this population.

Genetic testing is a very personal choice, but for me, it was the right one. I believe knowledge is power, and knowing the test result could save my life. If you are interested in testing, reach out to a genetic counselor or a certified health care professional. A genetic counselor will assess your individual risk based on family history, and should you opt for testing, will also help you translate the results.

So what if you do test positive for a BRCA mutation? There is no one “correct” approach to dealing with your cancer risk. Every woman should make her own decision based on her personal values and advice of her health care providers.

If, like Angelina Jolie and me, you decide to undergo a mastectomy to tackle your breast cancer risk, know it’s not easy. Recovery from a mastectomy can be painful, and breast reconstruction often takes months. But there are ways to prepare yourself and your body to make the experience as easy as possible.

If you are comfortable sharing your decision with others, reach out to close friends and family. Their physical and emotional support will be helpful during your recovery, whether you need someone to pick up a prescription at the pharmacy or you need a distraction after a more difficult day.

Purchase post-surgery necessities in advance, such as a mastectomy bra, button-up shirts, and a wedge pillow. Your mobility and range of motion will be limited after a mastectomy, preventing you from wearing your usual clothes.

Check out Preparing for a Mastectomy for a full list of my tips for preparing for a mastectomy. For additional information about the BRCA genes and genetic mutations, visit the National Cancer Institute.

Photo Credit: Leon Neal/AFP/Getty Images

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