Discovery of mutations in homologous recombination genes in African-American women with breast cancer.

ABSTRACT: African-American women are more likely to develop aggressive breast cancer at younger ages and experience poorer cancer prognoses than non-Hispanic Caucasians. Deficiency in repair of DNA by homologous recombination (HR) is associated with cancer development, suggesting that mutations in genes that affect this process may cause breast cancer. Inherited pathogenic mutations have been identified in genes involved in repairing DNA damage, but few studies have focused on African-Americans. We screened for germline mutations in seven HR repair pathway genes in DNA of 181 African-American women with breast cancer, evaluated the potential effects of identified missense variants using in silico prediction software, and functionally characterized a set of missense variants by yeast two-hybrid assay

SUBMITTER: Ding YC 

PROVIDER: S-EPMC5834346 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature