As a newlywed in the 1970s, I watched my vibrant, stylish maternal grandmother go from trim to gaunt. She and my grandfather had raced their family out of Vienna the day Hitler marched in. But now she was diagnosed with an ovarian tumor the size of an orange, too late for treatment to save her life. She died a year later, at age 74. I was overwhelmingly sad, but as a 29-year-old, I didn’t see the implications for me. The genetic links to breast and ovarian cancer had yet to be discovered. Families could only wonder and worry.
Little did I realize that over the next 40 years I would come to a decision on a question troubling many others like me: How much risk for a deadly disease had I inherited and what should I do when science has yet to offer answers?
The next shoe dropped in 1992. My mother, now approaching the age of my grandmother and fearing she would die the same way, insisted on a CT scan. It revealed an irregularity on an ovary. After major surgery, she announced that it had been a “pre-cancer.” No follow-up was needed. She was fine.
I continued with life, raising three daughters, blissfully ignorant of any health risk to myself. But that changed in 1994, when scientists announced a link between the BRCA mutations and breast and ovarian cancer. Over the next decade, as more research emerged, I became increasingly concerned — not just for myself, but also for my girls.
About 1 in 40 Ashkenazi Jews is a carrier of a BRCA mutation, compared with 1 in 500 in the general population. Had my grandmother and my mother, who had died at age 75 of an apparently unrelated brain tumor, been afflicted by these genes gone awry? Even scarier for our daughters: my husband’s mother and her sister had both died of breast cancer in their 50s. If our parents and their siblings carried the BRCA mutations, there was no way of knowing: They were all gone.
I began wondering what the pathology of my mother’s ovaries had really shown. She sometimes spun the truth to make herself look better, telling dinner guests, for instance, that she’d made the elaborate dessert when, in fact, she had bought it. What was this “pre-cancer” she had had? My ob-gyn had no idea what that meant. Had my mother invented that phrase to justify her fears and major surgery?
A sympathetic archivist at Columbia Presbyterian Hospital dug up long-buried records. They stated that my mother had had a tumor of “low malignant potential.” What did that mean? The tissue slides, which might have offered a definitive answer, had not been kept.
With genetic testing now readily available, my husband and I decided to get screened. Great news! Neither of us carried any of the major BRCA culprits! We cheered and happily announced to our daughters that they were free of that worry, anyway. We also urged our siblings to get tested. Perhaps we were the lucky ones in the roll of the genetic dice.
As for myself, I pretty much stopped worrying. Ovarian cancer is relatively uncommon, affecting about 1.4% of women over the course of their lives.
Three years later, in 2007, lightning struck: My husband’s sister Janice, age 53, was diagnosed with ovarian cancer. She had been vigilant about getting regularly checked for breast cancer — which had killed her mother and aunt — but she had not heeded our advice to go for genetic tests. They would have revealed that she had inherited a BRCA1 mutation, perhaps in time to take action. The risk of ovarian cancer for women with BRCA1 is upwards of 40% by age 70, according to the National Cancer Institute. About 65% will develop breast cancer.