Title: Genome-wide association study identifies a common variant associated with risk of endometrial cancer
Other Titles: Letters
Authors: Spurdle, Amanda ×
Thompson, Deborah
Ahmed, Shahana
Ferguson, Kaltin
Healey, Catherine
O'Mara, Tracy
Walker, Logan
Montgomery, Stephen
Dermitzakis, Emmanouil
The Australian National Endometrial Cancer Study Group
Fahey, Paul
Montgomery, Grant
Webb, Penelope
Fasching, Peter
Beckmann, Matthias
Ekici, Arif
Hein, Alexander
Lambrechts, Diether
Coenegrachts, Lieve
Vergote, Ignace
Amant, Frédéric
Salvesen, Helga
Trovik, Jone
Njolstad, Tormund
Helland, Harald
Scott, Rodney
Ashton, Katie
Proietto, Tony
Otton, Geoffrey
National Study of Endometrial Cancer Genetics Group
Tomlinson, Ian
Gorman, Maggie
Howarth, Kimberley
Hodgson, Shirley
Garcia-Closas, Montserrat
Wentzensen, Nicolas
Yang, Hannah
Chanock, Stephen
Hall, Per
Czene, Kamila
Liu, Jianjun
Li, Jingmei
Shu, Xiao-Ou
Zheng, Wei
Long, Jirong
Xiang, Yong-Bing
Shah, Mitul
Morrison, Jonathan
Michailidou, Kyriaki
Pharoah, Paul
Dunning, Alison
Easton, Douglas #
Issue Date: May-2011
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:43 issue:5 pages:451-454
Abstract: 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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Translational Genetics (Vesalius Research Center) (+)
Gynaecological Oncology
Vesalius Research Centre (-)
× corresponding author
# (joint) last author

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