A Special Request

I remember the fall of my junior year in college driving home one night after classes, during the middle of the week, even, to donate blood. I have O-negative blood so am considered a universal donor. But I made a three hour drive to donate blood that time, it was for my Aunt Cathy who was in the hospital undergoing very aggressive treatment for breast cancer. In the comments to my last post, my Aunt Cathy, now about 15 years cancer free, asked some questions and suggested I answer them here. As I feel like there’s little to do, or to report, while I await the oncologist appointment on Friday, I decided to take her suggestion.

My surgeon suggested genetic testing, and Aunt Cathy was curious about that, whether it’s standard practice now. This testing looks for specific mutations in two genes that increase a woman’s lifetime chance of breast cancer from around 12% to over 80%, her risk of ovarian cancer is also greatly increased. As such, many women with this mutation are diagnosed very young. Asymptomatic women with a very strong family history are sometimes tested, usually after thorough genetic counseling. For these women, a positive result means at the very least more frequent mammograms and MRIs. Many choose to undergo a prophylactic (preventative) mastectomy and oophorectomy to reduce their cancer risk.

Apparently, many doctors also now suggest this test to very young women diagnosed with breast cancer. A positive result for a woman already diagnosed with breast cancer is still informative. Because the tumors associated with a mutation tend to be more aggressive, it might suggest to an oncologist to take a more aggressive treatment course with chemotherapy. Few women with this mutation choose to keep their breasts, even if they have only a small tumor, and once treatment is over, many choose to have their ovaries removed.

Based on my family history, I don’t expect a positive result. And in the immediate future, a positive result doesn’t make much difference to me. Because of the pathological results from both of my biopsies, I will be receiving the most aggressive treatments regardless. But the genetic testing will be informative; it would help me manage any increased risk for ovarian cancer, and it will give my daughter valuable information for health care in the future.

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