Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden.

ABSTRACT:

Background

Germline genetic variation contributes to lung cancer (LC) susceptibility. Previous genome-wide association studies (GWAS) have implicated susceptibility loci involved in smoking behaviors and DNA repair genes, but further work is required to identify susceptibility variants.

Methods

To identify LC susceptibility loci, a family history-based genome-wide association by proxy (GWAx) of LC (48 843 European proxy LC patients, 195 387 controls) was combined with a previous LC GWAS (29 266 patients, 56 450 controls) by meta-analysis. Colocalization was used to explore candidate genes and overlap with existing traits at discovered susceptibility loci. Polygenic risk scores (PRS) were tested within an independent validation cohort (1 666 LC patients vs 6 664 controls) usi

SUBMITTER: Gabriel AAG 

PROVIDER: S-EPMC9360465 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature