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Recommendations Related to Genetic Testing for Breast Cancer.
JAMA ( IF 45.540 ) Pub Date : 2020-01-14 , DOI: 10.1001/jama.2019.18214
Thilo Dörk,Tjoung-Won Park-Simon,Peter Hillemanns

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.

更新日期:2020-01-14

 

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