Structural Variants at the <i>BRCA1/2</i> Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma.

ABSTRACT:

Purpose

The abundance and effects of structural variation at BRCA1/2 in tumors are not well understood. In particular, the impact of these events on homologous recombination repair deficiency (HRD) has yet to be demonstrated.

Experimental design

Exploiting a large collection of whole-genome sequencing data from high-grade serous ovarian carcinoma (N = 205) together with matched RNA sequencing for the majority of tumors (N = 150), we have comprehensively characterized mutation and expression at BRCA1/2.

Results

In addition to the known spectrum of short somatic mutations (SSM), we discovered that multi-megabase structural variants (SV) were a frequent, unappreciated source of BRCA1/2 disruption in these tumors, and we found a genome-wide enr

SUBMITTER: Ewing A 

PROVIDER: S-EPMC7610896 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature