Gene puts women at risk of devoping breast cancer

Raleigh News & Observer

CHAPEL HILL, N.C. — There are still days when Klara asks when the scars on her mother’s breasts are going to go away.

“This is what Mommy looks like,” Alicia Altmueller must tell her 6-year-old. “This is who I am now.”

Not that it’s easy for her to say — or even believe.

Altmueller found out two years ago that she was a carrier of the BRCA1 gene, of which certain mutations can lead to an increased risk for breast and ovarian cancer. It’s the same gene for which actress Christina Applegate tested positive, leading her to undergo a double mastectomy.

Altmueller, 37, did the same after hearing the numbers: For getting breast cancer, her chances were 87 percent; ovarian cancer, 50 percent.

Each year, more than 192,000 American women are diagnosed with breast cancer. According to the National Cancer Institute, less than 10 percent have a hereditary form of the disease, such as that found in the BRCA1 gene,or its sister, BRCA2. Up to 85 percent with the genes will develop breast cancer, compared to 13.2 percent of the general population. That’s about six times more likely.

The chances that breast or ovarian cancer are associated with either gene are highest in families with a history of multiple cases of breast or other cancers or families with an Ashkenazi Jewish background, an ethnic group five times more likely to carry the genes.

Tracey Leedom, a certified genetic counselor at Duke University, said the number of referrals for BRCA screenings increases each year. But the vast majority of women test negative. Because of high costs and potential issues with health insurance coverage, being screened for the gene is not recommended for everyone.

Doctors won’t screen anybody before age 18 because of the potential psychological effects such news can have and also to ensure a person can make his or her own decisions about the results.