BRCA Mutation and Preventative Surgery

Here is a story from my practice highlighting the importance of not only getting screened for the BRCA mutation, but also following through with the surgery that could save your life.  I saw a 32 year old woman a few years ago. She was referred to me after being diagnosed with breast cancer. Her doctor tested her and she was a carrier of a mutation in the BRCA gene, conferring a very high risk of cancers of the breast and ovaries, as well as melanoma and pancreatic cancer. We spent a lot of time discussing all the pros and cons of preventive surgery, the expected recovery, and my recommendations for a minimally invasive approach. She scheduled the surgery a few weeks later. When I showed up at the hospital to do her surgery, she was nowhere to be found. The hospital and my office tried calling her. No reply. We never heard from her, and she never gave an explanation for not showing up.

More than a year later, I got a frantic call from her friend. The patient was now sick, and advanced ovarian cancer was suspected. A CT scan showed it had spread throughout her abdomen. Can you imagine how she must have felt, knowing that if she had gone through with the surgery a year and a half earlier, it would have saved her life? Now, it was too late, and she had known she was a carrier of the BRCA mutation.

This experience really helped me, as a gynecologic oncologist, to understand the importance of these preventive surgeries. If you meet criteria for testing, get checked. Know your body, know your risk. Seek the expertise of professionals to help prevent what happened to this unfortunate woman.

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