Gene test for breast cancer only for high-risk women: Experts

December 26, 2013  16:39

The U.S. Preventive Services Task Force (USPSTF) reaffirmed its previous recommendation from 2005 that only a limited number of women with a family history of breast cancer be tested for mutations in the BRCA1 and BRCA2 genes that can increase their cancer risk.

Even then, these women should discuss the test with both their family doctor and a genetic counselor before proceeding with the BRCA genetic test, Newsmax Health reports.

Interest among women in genetic testing for breast cancer has greatly increased, partially due to Hollywood film star Angelina Jolie's announcement in May that she underwent a double mastectomy because she carried the BRCA1 mutation.

The problem is that there are myriad mutations of the BRCA gene. Doctors have identified some mutations that increase breast cancer risk, but there are many more BRCA mutations where the increased risk is either low or as yet unknown.

Dr. Virginia Moyer, the task force's chair said: "There are a variety of mutations. Often you get what appears to be a negative test but we call it an 'uninformative' negative because it just doesn't tell you anything. A woman would walk away from that with no idea, but worried, and that's not helpful."

Medical experts are concerned that many women will undergo unnecessary surgery following an unclear genetic test, having their breasts or ovaries needlessly removed to prevent a cancer risk they never had.

 "All of us have a copy of the BRCA gene, and some of us have a mutation," said Dr. Otis Brawley, chief medical officer of the American Cancer Society. "Some mutations increase the risk of breast cancer by up to 85 percent, others by 40 percent, others by 10 percent.

 "But the woman who now knows she has a mutation is very frightened and very upset, and no amount of explaining that it's of little to no significance will help," Brawley continued.

Both Brawley and Moyer emphasized that any woman interested in BRCA screening should meet with a certified genetic counselor before proceeding. The counselor will take a very detailed clinical history of the patient and assess whether they would benefit from the test.

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