A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes

Sally Mortlock, Rosario I Corona, Pik Fang Kho, Paul Pharoah, Paul D.P. Pharoah, Ji-Heui Seo, Matthew L Freedman, Simon A Gayther, Matthew T Siedhoff, Peter A W Rogers, R. Leuchter, Ronald Leuchter, Christine Walsh, Christine S Walsh, Ilana Cass, Beth Y Karlan, B J Rimel, Grant W Montgomery, Ovarian Cancer Association Consortium, International Endometriosis Genetics Consortium, Kate Lawrenson, Siddhartha Kar, Siddhartha P Kar
Cell reports. Medicine · 2022 · vol. 3(3) , pp. 100542 · doi:10.1016/j.xcrm.2022.100542 · PMID:35492879 · W4220822308
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This study investigated the genetic relationship between endometriosis and ovarian cancer histotypes, identifying significant genetic overlap and 28 associated loci, suggesting shared pathways and revealing target genes for disease mechanisms.

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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.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (93)

Cited by (33)

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