Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

ABSTRACT:

Background

Breast cancers (BCs) that arise in individuals heterozygous for a germline pathogenic variant in a susceptibility gene, such as BRCA1 and BRCA2, PALB2, and RAD51C, have been shown to exhibit biallelic loss in the respective genes and be associated with triple-negative breast cancer (TNBC) and distinctive somatic mutational signatures. Tumor sequencing thus presents an orthogonal approach to assess the role of candidate genes in BC development.

Methods

Exome sequencing was performed on paired normal-breast tumor DNA from 124 carriers of germline loss-of-function (LoF) or missense variant carriers in 15 known and candidate BC predisposition genes identified in the BEACCON case-control study. Biallelic inactivation and association with tumor genome features including

SUBMITTER: Lim BWX 

PROVIDER: S-EPMC9905963 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature