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The Time-Bomb Genes

More and more women are being tested for genetic defects that can cause breast and ovarian cancer. But learning you are at risk presents a near-impossible choice: Should you remove healthy breasts and ovaries to combat a disease you may never get? A report from the medical frontier.


When Angela T. enrolled in the genetic-testing program at Memorial Sloan-Kettering two years ago to find out whether she was predisposed to breast and ovarian cancer, it was in many ways the end of a long, difficult journey. For nearly 30 years, she had wondered not so much if she'd get sick but when. Over and over during this odyssey, she'd been forced to confront the most fundamental questions about who she was and whether some inherited characteristic meant her body was destined to fail her. Now there was a possibility she could get some answers.

She wanted to wake up in the morning, as she imagined most other women did, without worrying about lumps, ominous masses, or suspiciously dense tissue. At 49, she wanted relief from a dizzying cycle of more than two decades of mammograms, sonograms, MRIs, breast exams, and biopsies. Every three months it was off to the gynecologist, the breast surgeon, or both. After a while, she began to refer sardonically to these quarterly interruptions in her life as "AMA week." ("Will this be the week they find something?") During one twelve-year period, Angela had four biopsies.

"And it's not so long ago that when you signed to go in for a biopsy," she says, "you didn't know how you'd wake up. You either came out and were told it was a benign cyst or you had no breast."

Ever since high school, Angela (she asked that her name be changed) had lived with the burden of knowing that her family was its own little cancer cluster. While she obsessed about her own body and health, she watched as other women in the family got sick. First one aunt, then another. Then it struck her mother. To understand just how pernicious the disease has been and how deeply it infiltrated Angela's family, it's perhaps necessary to know only that her mother and her mother's three sisters all had breast cancer by the age of 45. One of the sisters also had ovarian cancer. Two weeks after Angela was married, her mother died at the age of 47. Only one of the aunts is still alive.

But on that morning when she walked down East 68th Street toward the hulking redbrick edifice of Sloan-Kettering to attend her first genetic-counseling session, she had no unrealistic expectations, no false hope that a blood test -- no matter how sophisticated the technology -- was going to solve all her problems. Or even answer all her questions.

"Why?" her friends asked insistently. "Why do you want to know?"

And the truth is that in the beginning, at the start of genetic counseling, Angela wasn't sure she did want to know. All she really wanted was to get on with her life -- and, of course, to prolong it. She wanted to continue to work with kids; to watch her two sons, now in their early twenties, grow and develop as men; and to someday become a grandparent.

"I really felt," Angela says, "that if I was going to be tested, then I wanted to have a pretty clear idea of what I would do if I tested positive."

If Angela agreed to give a blood sample, it would be screened for inherited mutations in two genes thought to play a crucial role in some breast and ovarian cancers -- BRCA 1, which was discovered only in 1994, and BRCA 2, which was identified a year later. Even though there is little understanding of what these genes do, scientists believe that defects found in one or both of them are responsible for nearly 10 percent of the approximately 180,000 cases of breast cancer diagnosed in the U.S. every year. In general, a woman has a 10 percent chance of developing breast cancer by the age of 85. These odds can rise to more than 80 percent -- depending on age and specific family history -- among women who have BRCA mutations. Ovarian cancer is much less common; a woman has only a 1.4 percent chance of getting it by 85. The odds jump 40 percent, however, for women who carry the BRCA mutations.

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