USPSTF guideline advises BRCA mutation screening for high-risk women

The United States Preventive Services Task Force (USPSTF) recommends that primary care providers screen asymptomatic women with a family history of breast, ovarian, tubal, or peritoneal cancers to determine if that family history is associated with an increased risk of potentially harmful mutations in breast cancer susceptibility genes BRCA1 or BRCA2, according to a recommendation statement published on Dec. 23 in the Annals of Internal Medicine.

Potentially harmful mutations of BRCA genes are predominantly found in breast, ovarian, and fallopian tube cancers. Women’s risk of breast cancer increases to 45-65 percent by the time they reach 70 years old if there are clinically significant mutations in either gene. Mutations in the BRCA1 gene increase the risk of ovarian cancer to 39 percent by age 70.

“For women whose family history is associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes, there is moderate certainty that the net benefit of testing for potentially harmful BRCA mutations and early intervention is moderate,” wrote Virginia A. Moyer, MD, MPH, of Baylor College of Medicine in Houston.

The new recommendation, which is an update of the 2005 USPSTF recommendation for genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility, also advises that women with positive screening results undergo genetic counseling and, if indicated after, BRCA testing. The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history isn’t associated with an increased risk for mutations in the BRCA1 or BRCA2 genes.

To read the full recommendation, click here.