Put to the Test: The Breast Cancer Gene

A woman with breast cancer undergoes genetic testing to find out whether she carries a breast cancer gene

By Peggy Orenstein

Ovarian cancer was a different story — it’s hard to detect, and nearly 65 percent of sufferers die within five years of diagnosis. I’d seen my aunt’s abdomen swell to the size of a basketball and watched the mischief and vitality drain from her lovely face. "Numbers aren’t the only way women make these decisions," said Beth Crawford, manager of UCSF’s cancer risk program. "If you’ve experienced loss, you may make a different choice than someone with little history of cancer in her family. I’ve met women who don’t have retirement accounts, they’re so convinced that they’ll die young. For them, knowing they can reduce risk with a mastectomy or ovariectomy comes as a relief."

Yes, No, Maybe?

About a third of the women who test positive in Crawford’s program have risk-reducing double mastectomies, and two-thirds undergo a risk-reducing ovariectomy. Seventeen percent of the latter group have turned out to have early stage, highly treatable cancers, tumors which, without the surgery, would probably not have been caught until they were lethal. That was a pretty powerful argument. On the other hand, I wasn’t eager to experience the jarring discomforts or health risks of early, surgical menopause. "Risk tolerance is different for everyone," Crawford said. "Some women can just monitor themselves closely and sit comfortably with that; others can’t. Everyone has to come to the decision that best allows them to go forward."

And what would that decision be for me? I stood at the craps table, feeling truly crappy, wondering what testing would mean to my mind, my body, my heart. I kept shaking those dice for the next six years. Then, at age 41, I gave birth to my daughter, and it became clear: I wanted to be here for her first day of kindergarten, to dance at her wedding and to meet my grandchildren. I needed to be tested. Either way, I’d keep my breasts, but if it came out positive for the mutation, I wanted my ovaries gone. Now. And so one day, in between the breastfeeding and diaper changing, I drove to the hospital, had my blood drawn and let those dice roll. The strangest thing was, I wasn’t even sure which result I was rooting for.

It came out negative.

"We were as surprised as you are," Crawford told me. "We calculated that you had a 90 percent chance of being positive.

"We call this an uninformed rather than a true negative," she added, explaining that if you thought of the BRCA gene as a document, the current test functioned as a spell and grammar check: It could find missing, extra or transposed letters and words. But if a whole sequence or chapter was gone, the test wouldn’t know anything was missing and would come out clean. So I might still have a mutation, they just couldn’t yet find it. I’d expected a yes or a no — or, more precisely, I’d expected a yes. But a maybe? No one told me that was a possibility. "Do I still have the ovariectomy?" I asked.

"Well, we can’t really make any recommendations beyond regular surveillance, because you don’t have a known mutation. Maybe in another year or so we’ll have something new to offer you." She smiled sympathetically. "I’m afraid this is a bit like peeling an onion."

What’s Next

I walked out of the hospital into the Northern California fog more lost and frightened than when I’d gone in. Perhaps my body really was a time bomb. Or maybe my cancer and my aunt’s were totally unrelated. A fluke, after all. I’d finally gambled on the test, and what did I learn? Bupkes. Part of me wished I had tested positive. At least then I’d know how to protect myself. Instead, I was left with the unknown — like everyone else.

The truth is, it’s not possible to ward off all evil, all disease, all ill luck. Maybe, someday, there will be much better detection, better treatment of breast and ovarian cancers, more understanding of the causes, even cures. I’ll be pushing for all of that, for myself and for my daughter, regardless of our risks. Meanwhile, simple as it sounds, I’m left with one last, best choice: living my life as it comes, every day — just as I always have.

Breast Cancer Special Report

Originally published in MORE magazine, October 2007.

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