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Abstract
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 the clinical presentation of
breast cancer between non-Hispanic white women and black women can be
accounted for by the presence of mutations in the BRCA1 and BRCA2 genes. The authors sought to evaluate the frequency of BRCA pathogenic variants in a population-based sample of young black women with breast cancer.
METHODS
Black
women diagnosed with invasive breast cancer at age ≤50 years from 2009
to 2012 were recruited to the study through the Florida Cancer Registry.
Participants underwent genetic counseling, completed a study
questionnaire, and consented to release of their medical records. Saliva
specimens were collected for BRCA sequencing and large rearrangement testing through multiplex ligation-dependent probe amplification.
RESULTS
A DNA sample was evaluated for 396 women, 49 of whom (12.4%) had a mutation in BRCA1 or BRCA2. Eight recurrent mutations accounted for 49% of all pathogenic variants.
CONCLUSIONS
To the authors' knowledge, the prevalence of BRCA
mutations among the Florida-based sample of young black women with
breast cancer in the current study exceeds that previously reported for
non-Hispanic white women. It is appropriate to recommend BRCA testing in all young black women with invasive breast cancer.
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