Genetic Testing & Breast Cancer


Nikki was a “friend of a friend” who originally came to my clinic simply because she lived nearby. She was in fairly good health, had a wonderful marriage, and was very happy with her job behind the scenes on a local television show. In fact, Nikki was known as “Sunny” to most people because of her ready smile and easy-going disposition. Whenever I mentioned changing her eating habits and making some time to exercise, Nikki just smiled, nodded politely and ignored me. So I was surprised to see her in my office one day, looking pale and worried. This was not the carefree, happy Nikki I was accustomed to seeing.

It turned out that one of Nikki’s cousins had been diagnosed with breast cancer. Like Nikki, the cousin was only in her 30s, but she had had genetic testing. She relayed her results to the entire family, along with the suggestion that they get tested, too. That was when Nikki discovered that she carried the BRCA1 gene mutation, elevating her risk of both breast and ovarian cancer.

“I am just petrified,”

she told me in the examining room. “We haven’t even started our family yet, and here I am, looking at a death sentence. I’ll do anything to stay well. Just tell me what to do.”

As so often happens, Nikki had miscalculated her risk of developing cancer, so when I explained the correct way to calculate the figures, she was relieved, but still very concerned and wondering what I thought about a preventive mastectomy with reconstruction. I explained that it would mean having no sensations in her breasts and that breastfeeding would be out of the question.  Then we talked about the fact that a mastectomy would only remove two potential cancer sites, leaving hundreds of others in her body. Wouldn’t it make more sense to do everything she could to prevent cancer from developing in the first place?

Nikki agreed. We created a diet plan that added fruits and vegetables to every meal, figured out how she could squeeze an exercise session into her mornings, and discussed supplements that would minimize her risk. That was ten years ago, and now Nikki is strong, healthy, and the mother of adorable twin boys. Best of all, she’s cancer free and is doing everything she can to stay that way.

“I thought all those things you kept telling me to do – eat right, work out, all that – were just too complicated and time consuming. Then I saw what my cousin went through with the breast cancer treatments and surgery, and then more treatment, and surgery again. If cooking our meals and taking a few minutes to exercise can keep me from what she had to deal with, it’s a small price to pay.”


Last Updated: August 16, 2018
Originally Published: October 16, 2013