A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes
Sally Mortlock, Rosario I. Corona, Pik Fang Kho, Paul D.P. Pharoah, Ji-Heui Seo, Matthew L. Freedman, Simon A. Gayther, Matthew T. Siedhoff, Peter A. W. Rogers, R. Leuchter, Christine Walsh, Ilana Cass, Beth Y. Karlan, B.J. Rimel, Grant W. Montgomery, Kate Lawrenson, Siddhartha Kar
Abstract
= 0.19) ovarian cancer, associations supported by Mendelian randomization analyses. Bivariate meta-analysis identified 28 loci associated with both endometriosis and EOC, including 19 with evidence for a shared underlying association signal. Differences in the shared risk suggest different underlying pathways may contribute to the relationship between endometriosis and the different histotypes. Functional annotation using transcriptomic and epigenomic profiles of relevant tissues/cells highlights several target genes. This comprehensive analysis reveals profound genetic overlap between endometriosis and EOC histotypes with valuable genomic targets for understanding the biological mechanisms linking the diseases.