Functional Landscape of Common Variants Associated with Susceptibility to Epithelial Ovarian Cancer

Functional Landscape of Common Variants Associated with Susceptibility to Epithelial Ovarian Cancer:

Abstract

Purpose of the Review

To date, genome-wide association studies (GWASs) have identified 39 genomic loci associated with risk of epithelial ovarian cancer at genome-wide significance level (p ≤ 5 × 10⁻⁸) and 13 additional loci using less strict thresholds. Follow-up functional dissection of these loci to uncover the underlining mechanisms driving cancer susceptibility has been challenging.

Recent Findings

In a manner similar to how post-linkage studies led the characterization of then poorly understood cellular pathways, functional analysis of GWAS loci is revealing new mechanisms of ovarian cancer.

Summary

Here, we review recent methodological and conceptual progress relevant to the understanding of how common genetic variation influences the risk of epithelial ovarian cancer.