Common genetic variation and susceptibility to ovarian cancer: Current insights and future directions

Siddhartha P. Kar, Andrew Berchuck, Simon A. Gayther, Ellen L. Goode, Kirsten B. Moysich, Celeste Leigh Pearce, Susan J. Ramus, Joellen M. Schildkraut, Thomas A. Sellers, Paul D.P. Pharoah

Research output: Contribution to journalEditorialpeer-review

16 Scopus citations


In this review, we summarize current progress in the genetic epidemiology of epithelial ovarian cancer (EOC), focusing exclusively on elucidating the role of common germline genetic variation in conferring susceptibility to EOC. We provide an overview of the more than 30 EOC risk loci identified to date by genome-wide association studies (GWAS) and describe the contribution of large-scale, cross-cancer type, custom genotyping projects, such as the OncoArray and the Collaborative Oncological Gene-Environment Study, to locus discovery and replication. We discuss the histotype-specific nature of these EOC risk loci, pleiotropy, or overlapping genetic effects between EOC and other hormone-related cancer types, and the application of findings to polygenic risk prediction for EOC. The second part of the article offers a concise review of primarily laboratory-based studies that have led to the identification of several putative EOC susceptibility genes using common variants at the known EOC risk loci as starting points. More global biological insights emerging from network- and pathway-based analyses of GWAS for EOC susceptibility are also highlighted. Finally, we delve into potential future directions, including the need to identify EOC risk loci in non-European populations and the next generation of GWAS functional studies that are likely to involve genome editing to establish the cell type–specific carcinogenic effects of EOC risk variants.

Original languageEnglish (US)
Pages (from-to)395-404
Number of pages10
JournalCancer Epidemiology Biomarkers and Prevention
Issue number4
StatePublished - Apr 2018

ASJC Scopus subject areas

  • General Medicine


Dive into the research topics of 'Common genetic variation and susceptibility to ovarian cancer: Current insights and future directions'. Together they form a unique fingerprint.

Cite this