Publication Date

7-1-2020

Journal

Cancer Epidemiology, Biomarkers & Prevention

DOI

10.1158/1055-9965.EPI-19-1085

PMID

32277007

PMCID

PMC8120681

PubMedCentral® Posted Date

5-14-2021

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes

Keywords

Case-Control Studies, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Lung Neoplasms, Male, Middle Aged, genetic variation, lung cancer driver gene, lung cancer risk, genome-wide association study, somatic alteration

Abstract

BACKGROUND: A substantial proportion of cancer driver genes (CDG) are also cancer predisposition genes. However, the associations between genetic variants in lung CDGs and the susceptibility to lung cancer have rarely been investigated.

METHODS: We selected expression-related single-nucleotide polymorphisms (eSNP) and nonsynonymous variants of lung CDGs, and tested their associations with lung cancer risk in two large-scale genome-wide association studies (20,871 cases and 15,971 controls of European descent). Conditional and joint association analysis was performed to identify independent risk variants. The associations of independent risk variants with somatic alterations in lung CDGs or recurrently altered pathways were investigated using data from The Cancer Genome Atlas (TCGA) project.

RESULTS: We identified seven independent SNPs in five lung CDGs that were consistently associated with lung cancer risk in discovery (

CONCLUSIONS: Genetic variants can regulate functions of lung CDGs and influence lung cancer susceptibility.

IMPACT: Our findings might help unravel biological mechanisms underlying lung cancer susceptibility.

Comments

Associated Data

Download

Share

COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.