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Title: Five endometrial cancer risk loci identified through genome-wide association analysis
Authors: Cheng, Timothy H T ×
Thompson, Deborah J
O'Mara, Tracy A
Painter, Jodie N
Glubb, Dylan M
Flach, Susanne
Lewis, Annabelle
French, Juliet D
Freeman-Mills, Luke
Church, David
Gorman, Maggie
Martin, Lynn
Hodgson, Shirley
Webb, Penelope M
Attia, John
Holliday, Elizabeth G
McEvoy, Mark
Scott, Rodney J
Henders, Anjali K
Martin, Nicholas G
Montgomery, Grant W
Nyholt, Dale R
Ahmed, Shahana
Healey, Catherine S
Shah, Mitul
Dennis, Joe
Fasching, Peter A
Beckmann, Matthias W
Hein, Alexander
Ekici, Arif B
Hall, Per
Czene, Kamila
Darabi, Hatef
Li, Jingmei
Dörk, Thilo
Dürst, Matthias
Hillemanns, Peter
Runnebaum, Ingo
Amant, Frédéric
Schrauwen, Stefanie
Zhao, Hui
Lambrechts, Diether
Depreeuw, Jeroen
Dowdy, Sean C
Goode, Ellen L
Fridley, Brooke L
Winham, Stacey J
Njølstad, Tormund S
Salvesen, Helga B
Trovik, Jone
Werner, Henrica M J
Ashton, Katie
Otton, Geoffrey
Proietto, Tony
Liu, Tao
Mints, Miriam
Tham, Emma
Li, Mulin Jun
Yip, Shun H
Wang, Junwen
Bolla, Manjeet K
Michailidou, Kyriaki
Wang, Qin
Tyrer, Jonathan P
Dunlop, Malcolm
Houlston, Richard
Palles, Claire
Hopper, John L
Peto, Julian
Swerdlow, Anthony J
Burwinkel, Barbara
Brenner, Hermann
Meindl, Alfons
Brauch, Hiltrud
Lindblom, Annika
Chang-Claude, Jenny
Couch, Fergus J
Giles, Graham G
Kristensen, Vessela N
Cox, Angela
Cunningham, Julie M
Pharoah, Paul D P
Dunning, Alison M
Edwards, Stacey L
Easton, Douglas F
Tomlinson, Ian
Spurdle, Amanda B #
Issue Date: Jun-2016
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:48 issue:6 pages:667-674
Article number: 10.1038/ng.3562
Abstract: We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32.33 (rs2498796, in AKT1, near SIVA1). We also found a second independent 8q24.21 signal (rs17232730). Functional studies of the 13q22.1 locus showed that rs9600103 (pairwise r(2) = 0.98 with rs11841589) is located in a region of active chromatin that interacts with the KLF5 promoter region. The rs9600103[T] allele that is protective in endometrial cancer suppressed gene expression in vitro, suggesting that regulation of the expression of KLF5, a gene linked to uterine development, is implicated in tumorigenesis. These findings provide enhanced insight into the genetic and biological basis of endometrial cancer.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Gynaecological Oncology
Laboratory of Translational Genetics (VIB-KU Leuven Center for Cancer Biology)
× corresponding author
# (joint) last author

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