Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.

ABSTRACT:

Background

DNA repair deficiencies are characteristic of cancer and homologous recombination deficiency (HRD) is the most common. HRD sensitizes tumour cells to PARP inhibitors so it is important to understand the landscape of HRD across different solid tumour types.

Methods

Germline and somatic BRCA mutations in breast and ovarian cancers were evaluated using sequencing data from The Cancer Genome Atlas (TCGA) database. Secondly, a larger independent genomic dataset was analysed to validate the TCGA results and determine the frequency of germline and somatic mutations across 15 different candidate homologous recombination repair (HRR) genes, and their relationship with the genetic events of bi-allelic loss, loss of heterozygosity (LOH) and tumour mutation burden (TMB).

R

SUBMITTER: Lai Z 

PROVIDER: S-EPMC8722117 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature