Breast cancer test misses mutations


The widely used genetic test for breast cancer risk can miss mutations that help cause the disease, according to a new study. The finding is likely to increase the pressure to develop more thorough testing methods.

The test, which looks for mutations in genes called BRCA1 and BRCA2, missed them in about 12 percent of breast cancer patients from families with multiple cases of breast or ovarian cancer, according to the study's authors at the University of Washington.

Experts said the chances of such false negative results were much smaller for women who were not from such high-risk families, so that most women who tested negative had little cause for concern.

In addition, experts said that even Ashkenazi Jews, who have a relatively high incidence of mutations, tend to have specific types that are not likely to be missed by the test.

Also, if a woman is tested for the same specific mutation her mother has, the test is not likely to miss it if it is there.

Still, experts said women in families with multiple cases of breast and ovarian cancer should take precautions as if they had a mutation, even if none was found.

"Everyone who has a strong family history and is negative should be considering how negative that result really was," said Dr. Judy E. Garber, director of the cancer risk and prevention program at the Dana-Farber Cancer Institute in Boston.

The new study, being published in The Journal of the American Medical Association, is likely to increase the pressure on Myriad Genetics, which offers the test.

The company, based in Salt Lake City, has long been the focus of controversy because its patents give it a monopoly on the test, for which it charges as much as $3,000.

Some geneticists say the monopoly has slowed development of better testing.

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