Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing

Stage I to IV TNBC patients enrolled in a prospective registry at academic and community practices between 2011 and 2013 (207; 80% Caucasian, 14% African American, 1% Ashkenazi) all underwent BRCA1/2 testing. Deleterious mutations were found in 15.4% (BRCA1 11.1%, BRCA2 4.3%). Prevalence was 31.6% with and 6.1% without a significant family history, and 27.6% at 50 or under, 11.4% at 51 to 60 and 4.9% at 61 or over. Using family history or age 50 or under alone would have missed 25% and 34% of carriers; the NCCN criteria of the time (all TNBC at 60 or under) identified 18.3% (32 of 175) and no carrier among the 32 patients outside them.