Screening and Prevention - Genetic testing for women at highest risk for breast cancer may not be accurate

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Breast Cancer Screening and Prevention

Genetic testing for women at highest risk for breast cancer may not be accurate

Genetic testing for breast cancer has become routine for women who have a family history of the disease. This test, which checks for mutations in particular genes (BRCA1 and BRCA2) known to increase the risk of breast cancer, allows women to better measure their risk and determine how proactive they need to be about cancer screening. However, a new study published in the Journal of the American Medical Association reveals that routine genetic screening may be less accurate for women with a strong family history of breast or ovarian cancer. Because these women are prone to less-commonly-seen gene alterations, a generic screen may not find all types of mutations. The study, which included 300 women from families with four or more instances of breast and ovarian cancer that had negative genetic tests, found that potentially dangerous mutations were missed in 12 percent of cases. "Our results suggest that genetic testing, as currently carried out in the United States, does not provide all available information to women at risk," wrote the study authors, who went on to suggest that women with a very strong family history of breast cancer seek different forms of genetic testing if their first screen is negative.

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