Genome-wide association study identifies a common variant associated with risk of endometrial cancer

Spurdle, Amanda B.; Thompson, Deborah J.; Fahey, Paul; Montgomery, Grant W.; Webb, Penelope M.; Fasching, Peter A.; Beckmann, Matthias W.; Ekici, Arif B.; Hein, Alexander; Lambrechts, Diether; Coenegrachts, Lieve; Vergote, Ignace; Ahmed, Shahana; Amant, Frederic; Salvesen, Helga B.; Trovik, Jone; Njolstad, Tormund S.; Helland, Harald; Scott, Rodney J.; Ashton, Katie; Proietto, Tony; Otton, Geoffrey; National Study of Endometrial Cancer Genetics Group,; Ferguson, Kaltin; Tomlinson, Ian; Gorman, Maggie; Howarth, Kimberley; Hodgson, Shirley; Garcia-Closas, Montserrat; Wentzensen, Nicolas; Yang, Hannah; Chanock, Stephen; Hall, Per; Czene, Kamila; Healey, Catherine S.; Liu, Jianjun; Li, Jingmei; Shu, Xiao-Ou; Zheng, Wei; Long, Jirong; Xiang, Yong-Bing; Shah, Mitul; Morrison, Jonathan; Michailidou, Kyriaki; Pharoah, Paul D.; O'Mara, Tracy; Dunning, Alison M.; Easton, Douglas F.; Walker, Logan C,; Montgomery, Stephen B.; Dermitzakis, Emmanouil T.; Australian National Endometrial Cancer Study Group,

Title: Genome-wide association study identifies a common variant associated with risk of endometrial cancer
Creator: Spurdle, Amanda B.; Thompson, Deborah J.; Fahey, Paul; Montgomery, Grant W.; Webb, Penelope M.; Fasching, Peter A.; Beckmann, Matthias W.; Ekici, Arif B.; Hein, Alexander; Lambrechts, Diether; Coenegrachts, Lieve; Vergote, Ignace; Ahmed, Shahana; Amant, Frederic; Salvesen, Helga B.; Trovik, Jone; Njolstad, Tormund S.; Helland, Harald; Scott, Rodney J.; Ashton, Katie; Proietto, Tony; Otton, Geoffrey; National Study of Endometrial Cancer Genetics Group,; Ferguson, Kaltin; Tomlinson, Ian; Gorman, Maggie; Howarth, Kimberley; Hodgson, Shirley; Garcia-Closas, Montserrat; Wentzensen, Nicolas; Yang, Hannah; Chanock, Stephen; Hall, Per; Czene, Kamila; Healey, Catherine S.; Liu, Jianjun; Li, Jingmei; Shu, Xiao-Ou; Zheng, Wei; Long, Jirong; Xiang, Yong-Bing; Shah, Mitul; Morrison, Jonathan; Michailidou, Kyriaki; Pharoah, Paul D.; O'Mara, Tracy; Dunning, Alison M.; Easton, Douglas F.; Walker, Logan C,; Montgomery, Stephen B.; Dermitzakis, Emmanouil T.; Australian National Endometrial Cancer Study Group,
Relation: NHMRC.552402 and 339435
Relation: Nature Genetics Vol. 43, Issue 5, p. 451-455
Publisher Link: http://dx.doi.org/10.1038/ng.812
Publisher: Nature Publishing Group
Resource Type: journal article
Date: 2011
Description: Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 controls from the Wellcome Trust Case Control Consortium. We compared genotype frequencies in cases and controls for 519,655 SNPs. Forty seven SNPs that showed evidence of association with endometrial cancer in stage 1 were genotyped in 3,957 additional cases and 6,886 controls. We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10⁻¹⁰) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.
Subject: hepatocyte nuclear factor 1 beta; clear cell carcinoma; prostate cancer; susceptibility loci
Identifier: http://hdl.handle.net/1959.13/1062618
Identifier: uon:17125
Identifier: ISSN:1061-4036
Language: eng
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