Functional characterization of RAD52 as a lung cancer susceptibility gene in the 12p13.33 locus.

ABSTRACT: Recent genome-wide association studies have identified variations in the recombination repair gene, RAD52, that are associated with increased lung cancer risk, and particularly with the development of lung squamous cell carcinomas (LUSC). As LUSC development is strongly associated with smoking, DNA repair is increased in the lung tissues of smokers, presumably because of ongoing DNA damage from exposure to tobacco smoke. A key player in the DNA damage response, RAD52 plays a role in DNA strand exchange and annealing during homologous recombination (HR) in mammalian cells. In this study, we discovered two cis-expression quantitative trait loci (eQTL) SNPs in the RAD52 gene that are associated with its expression and are also associated with LUSC risk. In addition, we report that amplificati

SUBMITTER: Lieberman R 

PROVIDER: S-EPMC4662629 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature