Identification of nine new susceptibility loci for endometrial cancer.

O'Mara, Tracy AORCID logo; Glubb, Dylan MORCID logo; Amant, Frederic; Annibali, DanielaORCID logo; Ashton, Katie; Attia, JohnORCID logo; Auer, Paul L; Beckmann, Matthias W; Black, Amanda; Bolla, Manjeet K; +115 more...Brauch, HiltrudORCID logo; Brenner, Hermann; Brinton, Louise; Buchanan, Daniel DORCID logo; Burwinkel, Barbara; Chang-Claude, Jenny; Chanock, Stephen J; Chen, Chu; Chen, Maxine M; Cheng, Timothy HT; Clarke, Christine L; Clendenning, Mark; Cook, Linda S; Couch, Fergus J; Cox, Angela; Crous-Bous, Marta; Czene, Kamila; Day, FelixORCID logo; Dennis, JoeORCID logo; Depreeuw, Jeroen; Doherty, Jennifer Anne; Dörk, Thilo; Dowdy, Sean C; Dürst, Matthias; Ekici, Arif B; Fasching, Peter AORCID logo; Fridley, Brooke L; Friedenreich, Christine MORCID logo; Fritschi, Lin; Fung, Jenny; García-Closas, Montserrat; Gaudet, Mia M; Giles, Graham G; Goode, Ellen L; Gorman, Maggie; Haiman, Christopher A; Hall, Per; Hankison, Susan E; Healey, Catherine S; Hein, AlexanderORCID logo; Hillemanns, Peter; Hodgson, Shirley; Hoivik, Erling A; Holliday, Elizabeth G; Hopper, John L; Hunter, David J; Jones, Angela; Krakstad, Camilla; Kristensen, Vessela N; Lambrechts, Diether; Marchand, Loic Le; Liang, Xiaolin; Lindblom, Annika; Lissowska, Jolanta; Long, Jirong; Lu, LingengORCID logo; Magliocco, Anthony M; Martin, LynnORCID logo; McEvoy, Mark; Meindl, Alfons; Michailidou, KyriakiORCID logo; Milne, Roger LORCID logo; Mints, Miriam; Montgomery, Grant WORCID logo; Nassir, Rami; Olsson, Håkan; Orlow, Irene; Otton, Geoffrey; Palles, Claire; Perry, John RB; Peto, JulianORCID logo; Pooler, Loreall; Prescott, Jennifer; Proietto, Tony; Rebbeck, Timothy R; Risch, Harvey A; Rogers, Peter AW; Rübner, Matthias; Runnebaum, Ingo; Sacerdote, Carlotta; Sarto, Gloria E; Schumacher, Fredrick; Scott, Rodney J; Setiawan, V Wendy; Shah, Mitul; Sheng, Xin; Shu, Xiao-Ou; Southey, Melissa C; Swerdlow, Anthony J; Tham, Emma; Trovik, Jone; Turman, Constance; Tyrer, Jonathan P; Vachon, Celine; VanDen Berg, David; Vanderstichele, Adriaan; Wang, Zhaoming; Webb, Penelope MORCID logo; Wentzensen, Nicolas; Werner, Henrica MJ; Winham, Stacey J; Wolk, AlicjaORCID logo; Xia, Lucy; Xiang, Yong-Bing; Yang, Hannah P; Yu, HerbertORCID logo; Zheng, WeiORCID logo; Pharoah, Paul DPORCID logo; Dunning, Alison M; Kraft, Peter; De Vivo, Immaculata; Tomlinson, IanORCID logo; Easton, Douglas FORCID logo; Spurdle, Amanda B; and Thompson, Deborah JORCID logo (2018) Identification of nine new susceptibility loci for endometrial cancer. Nature communications, 9 (1). 3166-. ISSN 2041-1723 DOI: 10.1038/s41467-018-05427-7
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Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer. At five loci, expression quantitative trait locus (eQTL) analyses identify candidate causal genes; risk alleles at two of these loci associate with decreased expression of genes, which encode negative regulators of oncogenic signal transduction proteins (SH2B3 (12q24.12) and NF1 (17q11.2)). In summary, this study has doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study.


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