Análise funcional de nove SNPs de susceptibilidade ao câncer de ovário no locus 8q21

Abstract

Ovarian câncer (OC) is one of the most lethal cancer because of lack of early diagnosis. Genetic factors contributing to OC have recently been investigated through genome-wide association studies (GWAS), implicating in several independent OC risk loci in different chromosomal regions, among them the locus 8q21. Here, we performed an in-depth functional analysis of 9 SNPs causal candidates in the risk locus on 8q21 proximal to the CHMP4C gene. We first characterized the region for likely regulatory elements and genes associated, then we tested the 9 SNPs candidates for allele-specific activity in two different enhancer scanning assay, as well transcription factors associated.