Editor’s note: In the interest of making the public aware of an important health issue, this article contains quotes from a Mohawk Valley woman who wished to preserve her anonymity.

BY MORGAN LYLE
Special to the Observer-Dispatch

It can be both terrifying and empowering for a woman to learn that her genes have all but doomed her to breast cancer.

It’s long been known that cancer runs in families. But since the mid-1990s, widely available genetic testing has been able to predict, with grim certainty, which women are far more likely than most to get the disease.

All it takes is a blood test and some time with a family tree. The result can be crushing: If the test finds a particular mutation of the genes named BRCA 1 or BRCA 2, breast cancer becomes not a possibility but a likelihood.

The options for a woman with this predisposition to breast cancer range from the common sense to the gut-wrenching — from more-frequent mammograms and self-exams, to use of the anti-cancer drug Tamoxifen, all the way to the surgical removal of a healthy breast — just to make sure it never becomes cancerous.

Mary Lou took the test, and chose to have her healthy breast removed.

Actually, she’d been considering prophylactic mastectomy, as it’s called, for some time. Mary Lou (not her real name; she asked not to be identified) had survived breast cancer in 1990. Her left breast had been removed. She knew women who survive cancer in one breast are at risk of getting it in the other someday — and at age 27, she had many somedays left.

Mary Lou also knew that her mother, her aunt and her grandfather had had cancer. Over the next nine years, removing her right breast and having reconstructive surgery on both breasts seemed less and less devastating and more and more sensible. The genetic test settled the matter.

“I was going to do it anyway, but it definitely gave me the support to know that it was the right thing to do,” the 39-year-old Herkimer County health care worker said. “You can take a chance and try to squeak by ... but at that time I was only 36. I’ve got a lot of years left and I wanted to increase that possibility. Because if you do get a re-occurrence you never know if you’re going to catch it in time.”

Today, her oncologist is urging Mary Lou, who is married and has no children, to have her ovaries removed. The BRCA 2 gene mutation that showed up in her test at the University of Rochester also puts her at greater risk for ovarian cancer.

In fact, Mary Lou’s 55-year-old aunt had her ovaries removed after she was tested to confirm Mary Lou’s diagnosis and determined to have the BRCA 2 gene mutation herself.

Having to consider such ordeals in the wake of test results may make some women reluctant to get genetic testing, said Kim Jensen, a genetic counselor for Mohawk Valley Genetic Services. But others may see it as a way to take control of their destiny.

“Some people can find the information a bit scary,” Jensen said. “When you see your family tree drawn out and you see the people in front of you who’ve had cancer, that can be striking.”

While it does run in families, the vast majority of breast cancer cases cannot be traced to an inherited genetic defect — or at least not to one identified so far by science. Experts say between 5 percent and 10 percent of all breast cancer cases are caused by an inherited gene mutation.

What’s more, having the mutated BRCA 1 or 2 genes does not always result in breast cancer. Experts once said the probability was as high as 85 percent, but a recent study in the Journal of the National Cancer Institute said that figure is probably exaggerated, and yet unknown factors probably play a role.

Nor does a cancer-free family history make you immune to the disease, as Janet Deis of Herkimer found out last October when a mammogram revealed she had breast cancer. She eventually underwent a mastectomy.

“I really felt that I was clear and free,” said Deis, 49, a Herkimer County BOCES special education teacher. “I felt that nobody had cancer in my family and I was safe.”

The National Breast Cancer Coalition and the American Society for Human Genetics both caution that genetic test results are extremely complex and must be interpreted by a trained counselor. “The tests offer few benefits,” the NBCC says. “They will not cure or prevent breast cancer, or predict risk for most women who develop breast cancer.”

Along with frightening some people away from knowing and provoking others to take action in response, genetic testing could have yet another effect: It could make it hard or impossible for predisposed individuals to get health insurance, life insurance or a job.

“We tell people there is a theoretical risk for discrimination based on test results,” Jensen said. “We don’t have evidence that this is widespread problem, but it’s something to keep in the back of your mind.”

She said she knows of no local cases of discrimination. Federal legislation prohibiting such discrimination has been proposed.

Mary Lou is firmly of the opinion that it’s best to know. “Anybody with a significant risk, I would recommend (genetic testing) or at least looking into it a lot,” she said. “I highly recommend any young woman with a mother or an aunt who’s had breast cancer to get a mammogram. The best piece of advice I can give to anyone is tackle it immediately, be aggressive, because there are things you can do.”