Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

PF Kho; S Mortlock; F Amant; D Annibali; K Ashton; J Attia; PL Auer; MW Beckmann; A Black; L Brinton; DD Buchanan; SJ Chanock; C Chen; MM Chen; THT Cheng; LS Cook; M Crous-Bous; K Czene; I Vivo; J Dennis; T Dörk; SC Dowdy; AM Dunning; M Dürst; DF Easton; AB Ekici; PA Fasching; BL Fridley; CM Friedenreich; M García-Closas; MM Gaudet; GG Giles; EL Goode; CA Haiman; P Hall; SE Hankinson; CS Healey; A Hein; P Hillemanns; S Hodgson; E Hoivik; EG Holliday; DJ Hunter; A Jones; P Kraft; C Krakstad; D Lambrechts; L Marchand; X Liang; A Lindblom; J Lissowska; J Long; L Lu; AM Magliocco; L Martin; M McEvoy; RL Milne; M Mints; R Nassir; I Orlow; G Otton; C Palles; PDP Pharoah; L Pooler; T Proietto; TR Rebbeck; SP Renner; HA Risch; M Rübner; I Runnebaum; C Sacerdote; GE Sarto; F Schumacher; RJ Scott; VW Setiawan; M Shah; X Sheng; XO Shu; MC Southey; E Tham; DJ Thompson; I Tomlinson; J Trovik; C Turman; D Berg; Z Wang; PM Webb; N Wentzensen; SJ Winham; L Xia; YB Xiang; HP Yang; H Yu; W Zheng; Y Sapkota; V Steinthorsdottir; AP Morris; A Fassbender; N Rahmioglu

Journal article

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

PF Kho, S Mortlock, F Amant, D Annibali, K Ashton, J Attia, PL Auer, MW Beckmann, A Black, L Brinton, DD Buchanan, SJ Chanock, C Chen, MM Chen, THT Cheng, LS Cook, M Crous-Bous, K Czene, I Vivo, J Dennis Show all

Human Genetics | SPRINGER | Published : 2021

DOI: 10.1007/s00439-021-02312-0

Abstract

Endometriosis, polycystic ovary syndrome (PCOS) and uterine fibroids have been proposed as endometrial cancer risk factors; however, disentangling their relationships with endometrial cancer is complicated due to shared risk factors and comorbidities. Using genome-wide association study (GWAS) data, we explored the relationships between these non-cancerous gynecological diseases and endometrial cancer risk by assessing genetic correlation, causal relationships and shared risk loci. We found significant genetic correlation between endometrial cancer and PCOS, and uterine fibroids. Adjustment for genetically predicted body mass index (a risk factor for PCOS, uterine fibroids and endometrial ca..

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University of Melbourne Researchers

Peter Rogers Author

Daniel Buchanan Author

Graham Giles Author

Melissa Southey Author

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Endometriosis is a common disease that affects 7% of reproductive age women in Australia, resulting in pelvic pain, subfertility and painful..

Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

PFK is supported by an Australian Government Research Training Program PhD Scholarship and QIMR Berghofer Postgraduate Top-Up Scholarship, TAO'M, GWM and ABS are supported by NHMRC Investigator Fellowships (APP1173170, GNT1177194 and APP1177524). This work was supported by National Health and Medical Research Council (NHMRC) Project Grants (APP1109286, GNT1026033, GNT1105321 and GNT1147846). Funding sources had no role in study design, data curation and analysis, data interpretation, report writing and submission for publication.