Identification of nine new susceptibility loci for endometrial cancer.
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Dylan M Glubb ;
Frederic Amant;
Daniela Annibali ;
Katie Ashton;
John Attia ;
Paul L Auer;
Matthias W Beckmann;
Amanda Black;
Manjeet K Bolla;
+115 more...
Hiltrud Brauch ;
Hermann Brenner;
Louise Brinton;
Daniel D Buchanan ;
Barbara Burwinkel;
Jenny Chang-Claude;
Stephen J Chanock;
Chu Chen;
Maxine M Chen;
Timothy HT Cheng;
Christine L Clarke;
Mark Clendenning;
Linda S Cook;
Fergus J Couch;
Angela Cox;
Marta Crous-Bous;
Kamila Czene;
Felix Day ;
Joe Dennis ;
Jeroen Depreeuw;
Jennifer Anne Doherty;
Thilo Dörk;
Sean C Dowdy;
Matthias Dürst;
Arif B Ekici;
Peter A Fasching ;
Brooke L Fridley;
Christine M Friedenreich ;
Lin Fritschi;
Jenny Fung;
Montserrat García-Closas;
Mia M Gaudet;
Graham G Giles;
Ellen L Goode;
Maggie Gorman;
Christopher A Haiman;
Per Hall;
Susan E Hankison;
Catherine S Healey;
Alexander Hein ;
Peter Hillemanns;
Shirley Hodgson;
Erling A Hoivik;
Elizabeth G Holliday;
John L Hopper;
David J Hunter;
Angela Jones;
Camilla Krakstad;
Vessela N Kristensen;
Diether Lambrechts;
Loic Le Marchand;
Xiaolin Liang;
Annika Lindblom;
Jolanta Lissowska;
Jirong Long;
Lingeng Lu ;
Anthony M Magliocco;
Lynn Martin ;
Mark McEvoy;
Alfons Meindl;
Kyriaki Michailidou ;
Roger L Milne ;
Miriam Mints;
Grant W Montgomery ;
Rami Nassir;
Håkan Olsson;
Irene Orlow;
Geoffrey Otton;
Claire Palles;
John RB Perry;
Julian Peto ;
Loreall Pooler;
Jennifer Prescott;
Tony Proietto;
Timothy R Rebbeck;
Harvey A Risch;
Peter AW Rogers;
Matthias Rübner;
Ingo Runnebaum;
Carlotta Sacerdote;
Gloria E Sarto;
Fredrick Schumacher;
Rodney J Scott;
V Wendy Setiawan;
Mitul Shah;
Xin Sheng;
Xiao-Ou Shu;
Melissa C Southey;
Anthony J Swerdlow;
Emma Tham;
Jone Trovik;
Constance Turman;
Jonathan P Tyrer;
Celine Vachon;
David VanDen Berg;
Adriaan Vanderstichele;
Zhaoming Wang;
Penelope M Webb ;
Nicolas Wentzensen;
Henrica MJ Werner;
Stacey J Winham;
Alicja Wolk ;
Lucy Xia;
Yong-Bing Xiang;
Hannah P Yang;
Herbert Yu ;
Wei Zheng ;
Paul DP Pharoah ;
Alison M Dunning;
Peter Kraft;
Immaculata De Vivo;
Ian Tomlinson ;
Douglas F Easton ;
Amanda B Spurdle;
Deborah J Thompson ;
(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
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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