A Dynamic <i>Cis</i>-Regulation Pattern Underlying Epithelial Ovarian Cancer Susceptibility.

Abstract

Efforts from the past decade in genomic analyses improved our understanding of genetic susceptibility to epithelial ovarian cancer (EOC). While genome-wide association studies (GWAS) have successfully identified approximately 40 genomic loci contributing to risk, a functional understanding of the molecular mechanisms underlying all but a few of these loci is lacking. The work by Buckley and colleagues has comprehensively characterized an EOC locus on chromosome band 9p22.2, identifying <i>cis</i>-regulatory functional sequence variants underlying multiple independent GWAS signals at 9p22.2 both within enhancer elements, as well as within a nuclear scaffold/matrix attachment region. Their findings further provide evidence implicating the basonuclin 2 (<i>BNC2</i>) gene in EOC risk and broaden the understanding of ovarian cancer biology.<i>See related article by Buckley et al., p. 467</i>.