Identification of nine new susceptibility loci for endometrial cancer
Authors: O’Mara Tracy A. , Glubb Dylan M. , Amant Frederic , Annibali Daniela , Ashton Katie , Attia John , Auer Paul L. , Beckmann Matthias W. , Black Amanda , Bolla Manjeet K. , Brauch Hiltrud , Brenner Hermann , Brinton Louise , Buchanan Daniel D. , Burwinkel Barbara , Chang-Claude Jenny , Chanock Stephen J. , Chen Chu , Chen Maxine M. , Cheng Timothy H. T. , Clarke Christine L. , Clendenning Mark , Cook Linda S. , Couch Fergus J. , Cox Angela , Crous-Bous Marta , Czene Kamila , Day Felix , Dennis Joe , Depreeuw Jeroen , Doherty Jennifer Anne , Dörk Thilo , Dowdy Sean C. , Dürst Matthias , Ekici Arif B. , Fasching Peter A. , Fridley Brooke L. , Friedenreich Christine M. , 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 Alexander , 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 Lingeng , Magliocco Anthony M. , Martin Lynn , McEvoy Mark , Meindl Alfons , Michailidou Kyriaki , Milne Roger L. , Mints Miriam , Montgomery Grant W. , Nassir Rami , Olsson Håkan , Orlow Irene , Otton Geoffrey , Palles Claire , Perry John R. B. , Peto Julian , Pooler Loreall , Prescott Jennifer , Proietto Tony , Rebbeck Timothy R. , Risch Harvey A. , Rogers Peter A. W. , 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 M. , Wentzensen Nicolas , Werner Henrica M. J. , Winham Stacey J. , Wolk Alicja , Xia Lucy , Xiang Yong-Bing , Yang Hannah P. , Yu Herbert , Zheng Wei , Pharoah Paul D. P. , Dunning Alison M. , Kraft Peter , De Vivo Immaculata , Tomlinson Ian , Easton Douglas F. , Spurdle Amanda B. , Thompson Deborah J. 
Published: August 2018

AbstractEndometrial 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.