An investigation of the association of genetic susceptibility risk with somatic mutation burden in breast cancer.

ABSTRACT:

Background

Genome-wide association studies have reported nearly 100 common germline susceptibility loci associated with the risk for breast cancer. Tumour sequencing studies have characterised somatic mutation profiles in breast cancer patients. The relationship between breast cancer susceptibility loci and somatic mutation patterns in breast cancer remains largely unexplored.

Methods

We used single-nucleotide polymorphism (SNP) genotyping array data and tumour exome sequencing data available from 638 breast cancer patients of European ancestry from The Cancer Genome Atlas (TCGA) project. We analysed both genotype data and, when necessary, imputed genotypes for 90 known breast cancer susceptibility loci. We performed linear regression models to investigate possible associati

SUBMITTER: Zhu B 

PROVIDER: S-EPMC5023771 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature