Integrative Functional Genomics Implicates EPB41 Dysregulation in Hepatocellular Carcinoma Risk.

ABSTRACT: Genome-wide association studies (GWASs) have provided many insights into cancer genetics. However, the molecular mechanisms of many susceptibility SNPs defined by GWASs in cancer heritability and in promoting cancer risk remain elusive. New research strategies, including functional evaluations, are warranted to systematically explore truly causal genetic variants. In this study, we developed an integrative functional genomics methodology to identify cancer susceptibility SNPs in transcription factor-binding sites across the whole genome. Employing integration of functional genomic data from c-Myc cistromics, 1000 Genomes, and the TRANSFAC matrix, we successfully annotated 12 SNPs present in the c-Myc cistrome with properties consistent with modulating c-Myc binding affinity in hepatocellul

SUBMITTER: Yang X 

PROVIDER: S-EPMC4974066 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature