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 cis-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 (BNC2) gene in EOC risk and broaden the understanding of ovarian cancer biology.See related article by Buckley et al., p. 467.
©2019 American Association for Cancer Research.