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Comment & Response
January 14, 2020

Recommendations Related to Genetic Testing for Breast Cancer

Author Affiliations
  • 1Department of Gynaecology and Obstetrics, Hannover Medical School, Hannover, Germany
JAMA. 2020;323(2):188. doi:10.1001/jama.2019.18214

To the Editor The USPSTF found adequate evidence of moderate benefit for women whose family or personal history is associated with increased risk for BRCA1/BRCA2 mutations, whereas for women without such family history, it stated that the benefits are small to none.1 However, a BRCA1/BRCA2 mutation carrier without a positive family history still faces a substantial lifetime risk, with more than half the hazard of a BRCA1/BRCA2 mutation carrier with a positive family history.2 The proportion of these unsuspected mutation carriers is not negligibly small. In hospital-based settings at Hannover Medical School, current risk assessment tools miss about half of BRCA1/BRCA2 mutation carriers in breast cancer cohorts because of incomplete penetrance or small pedigrees. A recent population-based study reported that 49.4% of BRCA1/BRCA2 mutation carriers did not meet guidelines for clinical testing.3 Such women would, at their asymptomatic stage, be excluded from the possible benefits of counseling, preventive measures, and intensified surveillance.

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