High cancer risk women consider early breast removal

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 to her decision to undergo a double mastectomy this summer.

Altmueller, 37, made the same choice 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 of these women have a hereditary form of the disease, like that found in the BRCA1 gene, or its sister, BRCA2. Up to 85 percent of women with the altered genes will develop breast cancer, compared to 13.2 percent of the general population. That's about 6 times more likely.

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

Altmueller met all the criteria.

"After I found out I had the gene, I would stare at myself in the mirror every day and wonder, 'Is it there yet?'" she said. "Cancer was knocking on my door."

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 for the gene. 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 the age of 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.

Because she already had two daughters, Klara and 3-year-old Miriam, and was not planning to have any more, Altmueller opted immediately for the preventive surgery to remove both her breasts as well as a total hysterectomy. Her chances of acquiring cancer have decreased to less than 1 percent now, she said.

The process was long, expensive and painful. After the first surgery last year, the mastectomies, Altmueller said she couldn't look at her breasts. But her husband, Stephan, did.

"He immediately said it wasn't bad and followed it with, 'You're even more beautiful than you ever were,'" she recalled.

Despite his support, she decided to have breast reconstruction surgery. "I wanted to feel like I was before all of this," she said.

She laughs, adding, "You can go from an A to a D, but I wanted to keep them real."

Altmueller isn't sure she would get the silicone reconstruction again, after dealing with weekly "expansion" appointments and infections.

There are nagging worries, Altmueller said. "Am I really a woman? Will my husband still feel like his wife is intact?"

(E-mail Sadia Latifi at sadia.latifi(at)newsobserver.com)

(Distributed by Scripps Howard News Service, www.scrippsnews.com.)