Genetic Test for Breast Cancer Risk Has Flaws

Beth Brophy Health Guide
  • Women who come from families with a high incidence of breast and ovarian cancer often undergo testing to see if they have a mutation in genes called BRCA1 and BRAC2. The most widely used test, which has been controversial because it has a monopoly and charges $3,000, has been found to miss mutations that can cause breast cancer, according to a new study in The Journal of the American Medical Association by researchers at the University of Washington. The New York Times reports that the authors, led by famed breast cancer researcher Mary-Claire King, studied 300 women who had negative test results and came from families with a high incidence of breast and ovarian cancer.
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    Some caveats: The chances of false negatives were smaller for women not from such high-risk families. And Ashkenazi Jewish women, who have a high incidence of mutations, have specific types not likely to be missed by the test. The study suggests that U.S. officials need to expand the type of testing used to determine whether women carry the mutation. There is a technique used in Europe that could detect many of the missed mutations, but it is only available in the U.S. for research projects.

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Published On: March 27, 2006