Five endometrial cancer risk loci identified through genome-wide association analysis

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, Doerk, Thilo, Duerst, Matthias, Hillemanns, Peter, Runnebaum, Ingo, Amant, Frederic, Schrauwen, Stefanie, Zhao, Hui, Lambrechts, Diether, Depreeuw, Jeroen, Dowdy, Sean C., Goode, Ellen L., Fridley, Brooke L., Winham, Stacey J., Njolstad, 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 and Spurdle, Amanda B. (2016) Five endometrial cancer risk loci identified through genome-wide association analysis. Nature Genetics, 48 6: 667-674. doi:10.1038/ng.3562

Author 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
Doerk, Thilo
Duerst, Matthias
Hillemanns, Peter
Runnebaum, Ingo
Amant, Frederic
Schrauwen, Stefanie
Zhao, Hui
Lambrechts, Diether
Depreeuw, Jeroen
Dowdy, Sean C.
Goode, Ellen L.
Fridley, Brooke L.
Winham, Stacey J.
Njolstad, 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.
Title Five endometrial cancer risk loci identified through genome-wide association analysis
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
Publication date 2016-06
Year available 2016
Sub-type Article (original research)
DOI 10.1038/ng.3562
Open Access Status Not Open Access
Volume 48
Issue 6
Start page 667
End page 674
Total pages 8
Place of publication New York, United States
Publisher Nature Publishing Group
Collection year 2017
Language eng
Formatted 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 r2 = 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.
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Q-Index Status Provisional Code
Institutional Status Non-UQ

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