Computational Investigation of Homologous Recombination DNA Repair Deficiency in Sporadic Breast Cancer.

ABSTRACT: BRCAness has important implications in the management and treatment of patients with breast and ovarian cancer. In this study, we propose a computational framework to measure the BRCAness of breast and ovarian tumor samples based on their gene expression profiles. We define a characteristic profile for BRCAness by comparing gene expression differences between BRCA1/2 mutant familial tumors and sporadic breast cancer tumors while adjusting for relevant clinical factors. With this BRCAness profile, our framework calculates sample-specific BRCA scores, which indicates homologous recombination (HR)-mediated DNA repair pathway activity of samples. We found that in sporadic breast cancer high BRCAness score is associated with aberrant copy number of HR genes rather than somatic mutation and othe

SUBMITTER: Wang Y 

PROVIDER: S-EPMC5691048 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature