A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

摘要: Background Black women are disproportionately affected with triple-negative breast cancer and have relatively poor survival. To the authors' knowledge, it is not known to what extent differences in clinical presentation of between non-Hispanic white black can be accounted for by presence mutations BRCA1 BRCA2 genes. The authors sought evaluate frequency BRCA pathogenic variants a population-based sample young cancer. Methods diagnosed invasive at age ≤50 years from 2009 2012 were recruited study through Florida Cancer Registry. Participants underwent genetic counseling, completed questionnaire, consented release their medical records. Saliva specimens collected sequencing large rearrangement testing multiplex ligation-dependent probe amplification. Results A DNA was evaluated 396 women, 49 whom (12.4%) had mutation or BRCA2. Eight recurrent 49% all variants. Conclusions prevalence among Florida-based current exceeds that previously reported women. It appropriate recommend