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A Piece of My Mind
February 28, 2017

Eradicating a Genetic Mutation

Author Affiliations
  • 1Hospital of the University of Pennsylvania, Philadelphia
JAMA. 2017;317(8):809. doi:10.1001/jama.2016.15136

At least if it’s a girl, and she becomes a mom, she’ll be able to breastfeed her own children, I thought with guarded anticipation as I walked to the hospital for another day of work as an ob/gyn resident. The day before, my pregnancy test had returned positive. I knew that, because of the way I became pregnant, this baby would be BRCA negative.

When I found out that I was positive for “the breast cancer gene” (BRCA) at age 24, my physicians laid out the facts: my risk of breast cancer by age 70 approached 65%. For ovarian cancer it was 40%. The way to manage the risk was to prophylactically remove my feminine organs one by one. In the interim period, between learning that I was a carrier of this genetic mutation and undergoing the first surgery—my double mastectomy—at age 28, Angelina Jolie disclosed her BRCA-positive status. She wrote about having a mastectomy to ensure that she would be alive for her children. Now I am writing about how I chose to make sure that my children would be alive for their own.