Testing for the Breast Cancer Gene

By: Lauren Evans Email
By: Lauren Evans Email

When Cathy Dutcher's sister was diagnosed with ovarian cancer and tested positive for a mutation in the BRCA 2 gene, which is linked to breast cancer, she knew she needed to get tested, too.

"It's almost like I had a feeling in my gut," she explains. "I knew I had to do it."

Cathy tested positive.

There are a lot of options for women who test positive for the so-called breast cancer gene, from increased clinical breast exams and mammograms, to chemo or medication like tamoxifin, and surgery.

Because of her family history and the fact that she had breast cancer before, Cathy chose the latter and had a double mastectomy.

A tough choice, but one she knew was right.

"When I had the mastectomies, they did find cancer in my right breast, so I was really lucky," she says. "They found it early, I did not have to have any treatment for it."

Going the surgical route is not uncommon.

"At some point in time, I would say about 50 percent of women choose to do that," says Mary Smania, a nurse practitioner at the MSU Department of Surgery who counsels women who test positive for the BRCA 1 and 2 gene mutations.

She says not everyone needs to be tested.

Women should consider testing if they have a family history of breast cancer before age 50, there is breast and ovarian cancer in their family, or if a man in their family has had breast cancer.

In the United States, BRCA mutations are found most often in Jewish women of Ashkenazi (Eastern European) origin.

Though knowing if you have the gene is just half the battle, for Cathy it made all the difference.

"I just feel like knowledge is power," she says. "And if you know these things, you grab the bull by the horns and that's just the best way to be."

About five to 10 percent of breast cancer cases are thought to be hereditary, resulting directly from gene mutations.

Testing can be done in the form of a blood test or a saliva test, which is just a swab of the inside of the cheek.

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