Authors:
Amanda B Spurdle, Deborah J Thompson, Shahana Ahmed, Kaltin Ferguson, Catherine S Healey, Tracy O'Mara, Logan C Walker, Stephen B Montgomery, Emmanouil T Dermitzakis, The Australian National Endometrial Cancer Study Group, Paul Fahey, Grant W Montgomery, Penelope M Webb, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Alexander Hein, Diether Lambrechts, Lieve Coenegrachts, Ignace Vergote, Frederic Amant, Helga B Salvesen, Jone Trovik, Tormund S Njolstad, Harald Helland, Rodney J Scott, Katie Ashton, Tony Proietto, Geoffrey Otton, National Study of Endometrial Cancer Genetics Group, Ian Tomlinson, Maggie Gorman, Kimberley Howarth, Shirley Hodgson, Montserrat Garcia-Closas, Nicolas Wentzensen, Hannah Yang, Stephen Chanock, Per Hall, Kamila Czene, Jianjun Liu, Jingmei Li, Xiao-Ou Shu, Wei Zheng, Jirong Long, Yong-Bing Xiang, Mitul Shah, Jonathan Morrison, Kyriaki Michailidou, Paul D Pharoah, Alison M Dunning, & Douglas F Easton
Summary:
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.
Source:
Nature Genetics; 43, 451-454 (04/17/11)