'I knew what I had to do'

Dawn Martinez's mother battled ovarian cancer for eight years. Her aunt, cousin and great-aunts all had breast cancer. So when her doctor suggested she undergo genetic testing to see if she, too, was at risk, she didn't hesitate.

The test was positive — Martinez had inherited a gene mutation that put her at a more than 80 percent chance of developing breast cancer and at least a 45 percent chance of getting ovarian cancer. (Click here for sites on genetic testing)

So, at age 35 and still cancer-free, Martinez, who lives in Mission, made a drastic decision. She had a hysterectomy, and two months later, a double mastectomy, followed by breast reconstructive surgery.

That was more than a year ago, and Martinez, who is married with four children, doesn't regret her choice for a minute, she said.
"I knew what I had to do," she said. "I witnessed what my mother went through and I knew that wasn't an option for me."

Of the 182,000 estimated new breast-cancer cases in the United States this year, about 5 to 10 percent represent hereditary forms of the disease, according to the National Cancer Institute. Some of these hereditary cases are linked to an alteration of the genes BRCA1 and BRCA2, short for breast cancer 1 or 2. Women who have inherited this gene mutation could have as much as an 85 percent chance of developing breast or ovarian cancer, said Dr. Alvaro Restrepo, an oncologist at South Texas Cancer Center in McAllen.

Women — or men — with a family history of breast or ovarian cancer should consider undergoing genetic testing, like Martinez did, to check for BRCA1 or BRCA2 alterations, Restrepo said.

"The major advantage is knowing your risk and being able to act upon that risk," Restrepo said. "If (the results are) positive, it can translate into saving your life and the lives of other relatives."

Testing isn't necessarily right for everyone, he said. Restrepo recommends it for patients who developed breast cancer before age 50 or who have close relatives with a history of breast or ovarian cancer.

According to the Mayo Clinic, people who meet those criteria could be at risk of carrying the mutated gene.

Women are more likely to have this mutation, but men can have it too, experts say.

"If we tested all potential persons with these mutations, we could decrease the mortality and incidence of breast cancer," Restrepo said.

Women with a positive test for BRCA1 or BRCA2 don't necessarily have to undergo a preventive mastectomy or hysterectomy to avoid cancer, experts said. Doctors also can monitor someone with a positive test more closely, recommending more frequent mammograms and cancer screenings. Or the person can undergo preventive chemotherapy or take medication that inhibits breast-cancer development, according to the National Cancer Institute.

Before and after testing, hospitals and clinics frequently offer genetic counseling. In these sessions, women with a positive test have a chance to thoroughly discuss their options, said Sarah Zentack, a genetic counselor at the University of Texas Southwestern Medical Center at Dallas.

More women are taking Martinez's approach of preventive surgery, Zentack said.

"I think it's becoming more accepted," she said. "And the reconstruction options have improved."

Pros and cons

For people with cancer-ridden family histories, genetic testing can yield life-saving information, Zentack said.

"These families often are devastated by cancer, and the test can help stop the cycle of cancer through early detection and prevention," she said.

Having that knowledge was empowering for Martinez.

"The fact that we have this genetic testing available to us is great," she said. "I'm an advocate for this test."

But for some women and men, the testing process could provoke prolonged anxiety or depression, Zentack said. That's why each person should be evaluated by a doctor first and then carefully consider whether to be tested, she said.

Some patients might worry that a positive test could come back to haunt them with an employer or insurance company. Federal laws offer some protection against genetic discrimination and another law offering further protection goes into effect next year.

Currently, the Health Insurance Portability and Accountability Act, or HIPAA, prohibits group health plans from using genetic test results as a reason for denying coverage. That law doesn't apply to all health plans, however.

In 2009, the Genetic Information Nondiscrimination Act will offer additional safeguards, including prohibiting insurance companies from increasing premiums or denying payments because of genetic information and prohibiting employers from discriminating against employees for genetic reasons.

The act doesn't apply to life, disability or long-term-care policies, Zentack said.

In the end, though, many patients feel it's better to have the information and make informed decisions, Restrepo said.
"It can really save lives," he said.

Melissa McEver covers health and environment issues for Valley Freedom Newspapers. She is based in Harlingen and you can reach her at (956) 430-6252.