Germline Cancer Gene Expression Quantitative Trait Loci Are Associated with Local and Global Tumor Mutations.

ABSTRACT: Somatic mutations drive cancer development and are relevant to patient responses to treatment. Emerging evidence shows that variations in the somatic genome can be influenced by the germline genetic background. However, the mechanisms underlying these germline-somatic associations remain largely obscure. We hypothesized that germline variants can influence somatic mutations in a nearby cancer gene ("local impact") or a set of recurrently mutated cancer genes across the genome ("global impact") through their regulatory effect on gene expression. To test this hypothesis, tumor targeted sequencing data from 12,413 patients across 11 cancer types in the Dana-Farber Profile cohort were integrated with germline cancer gene expression quantitative trait loci (eQTL) from the Genotype-Tissue Expres

SUBMITTER: Liu Y 

PROVIDER: S-EPMC10106413 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature