Experts weigh in on BRCA1/2 mutations and prophylactic surgeries


  • Carrie Printz

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Gail Tomlinson, MD, PhD, interim director of the Greehey Children's Cancer Research Institute at the University of Texas Health Science Center, San Antonio, and coauthor of the prospective BRCA1/2 mutation study.2

“For women and families at risk of developing these cancers, this study shows a very real benefit to these prophylactic surgeries, allowing women to concentrate on other aspects of their lives, such as their families, children, and jobs.”

“Women with BRCA1mutations have a higher percentage of triple-negative tumors that don't respond to tamoxifen or aromatase inhibitors and can be very aggressive, so some of these women may be less willing to run the risk of waiting [rather than undergo one or both surgeries].”

“We need to see if, after 20 to 30 years, women still feel good about having had these surgeries.”

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Martha Thomas, MS, certified genetic counselor at the University of Texas Health Science Center at San Antonio

“No genetic testing is perfect. BRCA analysis will detect up to 90% to 92% of all mutations. The BRCA rearrangement test came out in 2007, and it looks for large deletions and duplications in the gene. A lot of women have had to come back to have this new test.”

“The Genetic Information Nondiscrimination Act of 2008 prevents people from discrimination by Insurers and employers based on genetic test results, but it doesn't include life insurance. But, I think because these tests are relatively new, unless you're getting a multimillion-dollar policy, rarely does it come up.”

“I had one woman who, when she gother positive results back, wanted to go to the operating room immediately. But the doctor I work with says, ‘Prevention is never an emergency.’”

“A lot of people's concerns are for their children. Except under extreme circumstances, we don't recommend testing under age 18. The earliest is about 25.”

“Even after a prophylactic mastectomy, there is still a 5% to 10%residual risk of developing breast cancer. And if women decide to keep their nipple, there's a slight additional residual risk.”

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Kelly Hunt, MD, chief of the surgical breast section at The University of Texas MD Anderson Cancer Center in Houston, Texas

“Recommendations are re-evaluated every year, and these study Results certainly will make those recommendations stronger. In the past, there was less data showing that these surgeries reduce mortality. There have been ads encouraging women to get genetic testing, and that brings in women who may not need to be tested. Also, just because a woman tests negative for BRCA1or 2doesn't mean she still isn't high risk. That's why women considering the test should get counseling.”

“The mutation location, a patient's family history, and her age at diagnosis will all affect relative risk. Older women won't benefit as much from oophorectomy after menopause. Also, breast cancer patients who have been treated with chemotherapy that leads to menopause may not receive much benefit from oophorectomy.”

“It's always important to consider how many quality years you're gaining with this surgery. Individuals need to know what life changes will occur, especially with young women who have oophorectomies now that it is less clear whether they should take hormone replacement therapy.”

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Christina Finlayson, MD, professor of surgery and director of the Diane O'Connor Thompson Breast Center at the University of Colorado Cancer Center in Aurora

“As we're testing more people, we're finding more mutations. The initial families we tested were at very high risk. Now, if a patient is diagnosed with breast cancer under age 45, it's an indication to test even if there's no family history. So, we're picking up family members with the mutation that may or may not have as high a risk as the original group we studied.”

“Locally, I see many more women choosing prophylactic mastectomies Than high-risk screening. But there also has been a pendulum shift in the general population away from breast conservation toward mastectomy. Prevention is becoming amore accepted way to manage your health.”

“Women with the mutations who have cancer in 1 breast will choose bilateral mastectomies because they have a 40–50% chance of getting cancer in the other breast in the next 10 years.”

“It's important that women realize that reconstruction after mastectomy is not the same as breast augmentation. We can do a lot to make the breasts look better, but they will never feel the same—the breast area is numb and the nipple, ifwe save it, is still numb.”

“It's important for women undergoing prophylactic mastectomy to do a little grief therapy, because it is a loss. I think they under estimate the scope of the operation—it takes a lot out of you, and there are life long changes you have to cope with. Having good emotional support is very important.”