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Defect Detector: Plugging holes in a breast cancer–gene screen

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12:25pm, March 22, 2006

A European genetic test catches mutations that are missed by the sole test commercially available in the United States to screen the so-called breast cancer genes, a new study shows.

The genes, called BRCA1 and BRCA2, normally encode proteins that suppress rampant cell growth. But when these genes are mutated, they can yield defective proteins that leave a person vulnerable to cancer. A woman harboring a mutation in BRCA1, for example, faces a lifetime risk of 50 to 80 percent of developing breast cancer. A mutation in either BRCA gene also confers an increased risk of ovarian cancer.

Women with a known BRCA mutation can be closely monitored and frequently screened for breast cancer, or they may even choose to have their breasts or ovaries surgically removed to prevent disease.

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