Evidence of a genetic link between endometriosis and ovarian cancer

Alice W Lee, Claire Templeman, Douglas Stram, Douglas A Stram, Jonathan Beesley, Jonathan Tyrer, Andrew Berchuck, Paul P Pharoah, Paul D.P. Pharoah, Georgia Chenevix-Trench, Georgia Chenevix‐Trench, Celeste Leigh Pearce, Roberta B. Ness, Ovarian Cancer Association Consortium, Agnieszka Dansonka‐Mieszkowska, Aleksandra Gentry‐Maharaj, Alexander Hein, Alice S. Whittemore, Allan Jensen, Andreas du Bois, Angela Brooks‐Wilson, Anja Rudolph, Anna Jakubowska, Anna H. Wu, Argyrios Ziogas, Arif B. Ekici, Arto Leminen, Barry P. Rosen, Beata Śpiewankiewicz, Beth Y. Karlan, Britton Trabert, Brooke L. Fridley, C. Blake Gilks, Camilla Krakstad, Catherine M. Phelan, Cezary Cybulski, Christine M. Walsh, Claus Høgdall, Daniel W. Cramer, David G. Huntsman, Diana Eccles, Diether Lambrechts, Dong Liang, Douglas A. Levine, Edwin S. Iversen, Elisa V. Bandera, Elizabeth M. Poole, Ellen L. Goode, Els Van Nieuwenhuysen, Estrid Høgdall, Fiona Bruinsma, Florian Heitz, Francesmary Modugno, Graham G. Giles, Harvey A. Risch, Helen Baker, Helga B. Salvesen, Heli Nevanlinna, Hoda Anton‐Culver, Honglin Song, Iain A. McNeish, Ian Campbell, Ignace Vergote, Ingo B. Runnebaum, Ingvild L. Tangen, Ira Schwaab, Jacek Gronwald, James Paul, Jan Lubiński, Jennifer A. Doherty, Jenny Chang‐Claude, Jenny Lester, Joellen M. Schildkraut, Esther M. John, John R. McLaughlin, Jolanta Lissowska, Jolanta Kupryjańczyk, Jonathan P. Tyrer, Joseph L. Kelley, Joseph H. Rothstein, Julie M. Cunningham, Karen Lu, Karen Carty, Kathryn L. Terry, Katja K.H. Aben, Kirsten B. Moysich, Kristine G. Wicklund, Kunle Odunsi, Lambertus A. Kiemeney, Lara Sucheston‐Campbell, Lene Lundvall, Leon F.A.G. Massuger, Liisa M. Pelttari, Linda E. Kelemen, Linda S. Cook, Line Bjørge, Lotte Nedergaard, Louise A. Brinton, Lynne R. Wilkens, Malcolm C. Pike, Marc T. Goodman, Maria Bisogna, Mary Anne Rossing, Matthias W. Beckmann, Matthias Dürst, Melissa C. Southey, Melissa Kellar, Michelle A.T. Hildebrandt, Nadeem Siddiqui, Natalia Antonenkova, Natalia Bogdanova, Nhu D. Le, Nicolas Wentzensen, Pamela J. Thompson, Patricia Harrington, Penelope M. Webb, Peter A. Fasching, Peter Hillemanns, Philipp Harter, Piotr Sobiczewski, Rachel Palmieri Weber, Ralf Bützow, Robert P. Edwards, Robert A. Vierkant, Rosalind Glasspool, Sandra Oršulić, Sandrina Lambrechts, Sara H. Olson, Shan Wang‐Gohrke, Shashi Lele, Shelley S. Tworoger, Simon A. Gayther, Stacey A. Missmer, Steven A. Narod, Susan J. Ramus, Susanne K. Kjær, Tanja Pejović, Thilo Dörk, Ursula Eilber, Usha Menon, Valerie McGuire, Weiva Sieh, Xifeng Wu, Yukie T. Bean, Yurii B. Shvetsov
Fertility and sterility · 2015 · vol. 105(1) , pp. 35–43.e10 · doi:10.1016/j.fertnstert.2015.09.023 · PMID:26477498 · PMC5068352 · W2215928263
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-07 ⓘ

This pooled genetic analysis found significant evidence linking endometriosis-associated genetic variation to ovarian cancer risk, particularly for high-grade serous and clear cell histotypes.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This paper pooled genetic data from 41 ovarian cancer studies in 46,176 participants of European ancestry (15,361 cases and 30,815 controls) to test whether endometriosis-associated genetic variants affect ovarian cancer risk. Using imputed genotypes (IMPUTE2/1000 Genomes) and selecting 38 index SNPs (covering 18 linkage disequilibrium regions) previously reported in endometriosis GWAS meta-analysis, the authors assessed burden statistics and examined associations by ovarian cancer histotype. They found significant evidence of an association between endometriosis-related genetic variation and ovarian cancer risk, with signals particularly for high-grade serous and clear cell histotypes, and reported 15 significant burden statistics (threefold more than expected). A stated limitation is that the functional significance of the identified regions/SNPs remains uncertain and requires further fine mapping and histotype-specific functional analyses. This paper is centrally about endometriosis — it evaluates a genetic link between endometriosis-associated variation and ovarian cancer risk, especially in specific histotypes.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Ovarian Neoplasms Polymorphism, Single Nucleotide Case-Control Studies Computational Biology Databases, Genetic Endometriosis Endometriosis Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Neoplasm Grading Ovarian Neoplasms Ovarian Neoplasms Phenotype Risk Assessment Risk Factors

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