Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations.

ABSTRACT:

Background

Germline mutations in the BRCA1 and BRCA2 genes predispose carriers to breast and ovarian cancer, and there remains a need to identify the specific genomic mechanisms by which cancer evolves in these patients. Here we present a systematic genomic analysis of breast tumors with BRCA1 and BRCA2 mutations.

Methods

We analyzed genomic data from breast tumors, with a focus on comparing tumors with BRCA1/BRCA2 gene mutations with common classes of sporadic breast tumors.

Results

We identify differences between BRCA-mutated and sporadic breast tumors in patterns of point mutation, DNA methylation and structural variation. We show that structural variation disproportionately affects tumor suppressor genes and identify specific driver gene candidates that are enrich

SUBMITTER: Lal A 

PROVIDER: S-EPMC6558765 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature