Genetic variations in cancer-related significantly mutated genes and lung cancer susceptibility.

ABSTRACT:

Background

Cancer initiation and development are driven by key mutations in driver genes. Applying high-throughput sequencing technologies and bioinformatic analyses, The Cancer Genome Atlas (TCGA) project has identified panels of somatic mutations that contributed to the etiology of various cancers. However, there are few studies investigating the germline genetic variations in these significantly mutated genes (SMGs) and lung cancer susceptibility.

Patients and methods

We comprehensively evaluated 1655 tagged single nucleotide polymorphisms (SNPs) located in 127 SMGs identified by TCGA, and test their association with lung cancer risk in large-scale case-control study. Functional effect of the validated SNPs, gene mutation frequency and pathways were analyzed.

Results</

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC5834153 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature