Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

ABSTRACT:

Background

Common single-nucleotide polymorphisms (SNPs) in ten chromosomal loci have been shown to predispose to colorectal cancer (CRC) in genome-wide association studies. A plausible biological mechanism of CRC susceptibility associated with genetic variation has so far only been proposed for three loci, each pointing to variants that affect gene expression through distant regulatory elements. In this study, we aimed to gain insight into the molecular basis of seven low-penetrance CRC loci tagged by rs4779584 at 15q13, rs10795668 at 10p14, rs3802842 at 11q23, rs4444235 at 14q22, rs9929218 at 16q22, rs10411210 at 19q13, and rs961253 at 20p12.

Methods

Possible somatic gain of the risk allele or loss of the protective allele was studied by analyzing allelic imbalance in tumo

SUBMITTER: Niittymaki I 

PROVIDER: S-EPMC3045878 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature