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BRCA Testing Isn't Going to Answer All Your Breast Cancer Concerns

Jenny Splitter is a writer and over-scheduled mom living in Washington, DC. Her favorite things are black coffee, uninterrupted sleep and conversations that have nothing to do with Minecraft.

Getting BRCA testing left me with more questions about cancer risk, not answers

I lost my mother to cancer when I was 19, and like most people who suffer that kind of loss, I wanted answers — some kind of explanation for what happened to my mom, and as it happened, many of the other women in her family too. My mother, who was Jewish, died from pancreatic cancer when she was in her 40s, and many of her maternal aunts, also Jewish, suffered from breast cancer.

I felt there had to be a connection between all of these cancer cases, but over the years, all of my doctors always said no — breast and pancreatic cancer aren't related, and because I don’t have any maternal aunts with breast cancer, I'm not considered "high risk."

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Then one night, while browsing Johns Hopkins Pancreatic Cancer Research Center’s website (you know, a typical Saturday night), I was surprised to learn there can be a hereditary connection between some forms of breast and pancreatic cancers in Ashkenazi Jews. Unfortunately, the testing for that mutation wasn’t covered by insurance at that time, so it would cost thousands of dollars. But several years and a Supreme Court decision later, my health insurance was finally able to cover the testing.

I met with a geneticist this past summer and we went over my entire family tree — my mother, her brother, her aunts, my father, my grandparents — as many family health histories as my dad could remember, plus my younger sister and my two kids. I kept staring at the many names on the page, trying to keep all of these connected histories straight. The nurse took some blood. I went home and then did my best over the next several weeks to avoid thinking about cancer.

When I came back to get the results, my anxiety was at a fever pitch. The doctor met me in the waiting room, and as we rode the elevator up to her office, she turned to me and asked, “Did you cut your hair?”

What does that mean, I wondered. Is she trying to cheer me up before she gives me bad news? Or is she so relaxed, thanks to my good test results, that she just wants to chat about my haircut.

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“Mmhmmm,” I nodded and began furiously chewing my lip off. After what may have been the longest two-minute elevator ride of my life, we finally arrived at her office.

I didn’t test positive for any of the breast or pancreatic cancer mutations. Not one. But before I could react, she told me I did test positive for a mutation associated with a moderate risk of colon cancer. Colon cancer?

“But no one in my family has ever had colon cancer,” I stammered. It turns out the risk for that mutation is only about the same as having a relative with colon cancer. And risk isn’t the same as a diagnosis. You can have a mutation without ever getting cancer.

All these years, I’ve been waiting for science to give me answers, but now I only had more questions. Did the results mean I didn’t inherit the mutations my mother and aunts had or did it mean they never had those mutations to begin with? Because most cancers are “sporadic” rather than “inherited,” there’s a chance my mother and even her aunts’ cancers weren’t inherited conditions.

This year, I had my first of (hopefully?) many colonoscopies, as I’ll need to get them every three to five years from now on. My sister, and eventually, my kids should get tested too. I was hoping genetic testing would give me a sense of certainty, but I often feel anxious and overwhelmed. I’m seeing a gastroenterologist for the colon cancer risk, a breast cancer oncologist for the still unexplained breast cancer in my family, and I’m supposed to get on the registry for pancreatic cancer at Johns Hopkins. These appointments feel like a constant reminder that illness and death lurk around every corner. Was the testing worth it? I don’t know.

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I met with the breast cancer oncologist a few weeks after my genetic testing results. For years, doctors have more or less just shrugged their shoulders at my family history, but this doctor, perhaps because she’s a breast cancer specialist, took one look at my chart and said, “This definitely looks like a hereditary cancer.” I’d been waiting for something definitive and, well, here she was. We made a plan: I asked my dad to get further testing to see if we could trace the colon cancer mutation, scheduled my mammogram and agreed to come back in six months and reevaluate.

It turns out my dad does have this same mutation, which means this testing isn’t just about me or my mom. It’s my dad, my sister, my kids — a never-ending set of calculations. Genetic testing doesn’t give you answers; it just gives you information. Figuring out what comes next is no easy feat.

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