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Because prevalence of BRCA1 and BRCA2 mutations is higher among young women with breast cancer, NCCN guidelines recommend carrier testing for women with diagnoses at or before age 50. In the Young Women's Breast Cancer Study, researchers in the U.S. and Canada enrolled women diagnosed with breast cancer at age ≤40.
Among 897 participants recruited between 2006 and 2014 (mean age at diagnosis, 35.5), 86.1% were non-Hispanic white, 84.5% had at least a college education, and 99.8% were insured. BRCA testing was performed within 1 year of diagnosis in 87.0% of participants, with uptake rising from 76.9% in 2006 to 95.3% in 2013. Rates of specific test outcomes were 7.6% (BRCA1 mutation), 4.5% (BRCA2 mutation), 4.6% (indeterminate result of unkn…