Study: Female genetic mutation linked to higher risk of breast cancer

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A new U.S. study suggests that women who carry a genetic mutation linked to a higher risk of breast cancer often are at advanced stages of the disease months before they go the doctor for an annual screening.

The small percentage of women who carry the genetic mutation - BRCA1 and BRCA2 - may need more frequent mammograms and ultrasound screening, said researchers at the Columbia-Presbyterian Medical Center in New York.

In the study of 13 women, ages 32 to 59 with these genes, researchers found six had developed breast cancers detected in between their annual mammograms. The average time that had elapsed since their last annual screening was about five months, and four of the six had already developed relatively advanced cancers that had spread to their lymph nodes.

The genetic markers are more common among Ashkenazi Jews, said Columbia Presbyterian researchers. They account for between 5 percent and 10 percent of the estimated 180,000 breast cancer cases diagnosed in the United States each year. Carriers have a 60 percent to 85 percent lifetime risk of contracting the disease, which kills about 44,000 women in the United States each year.