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

Spurdle, Amanda B
Thompson, Deborah J
Ahmed, Shahana
Ferguson, Kaltin
Healey, Catherine S
O'Mara, Tracy
Walker, Logan C
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Published in Nature Genetics. 2011, vol. 43, no. 5, p. 451-4
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.
Keywords AdolescentAdultAgedAged, 80 and overCase-Control StudiesDiabetes Mellitus, Type 2/geneticsEndometrial Neoplasms/geneticsFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHepatocyte Nuclear Factor 1-beta/geneticsHumansMaleMiddle AgedOdds RatioPolymorphism, Single NucleotideProstatic Neoplasms/geneticsRisk FactorsYoung Adult
PMID: 21499250
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Article (Published version) (332 Kb) - public document Free access
Research group Population Genomics and Genetics of Complex Traits (892)
Project Jeantet
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SPURDLE, Amanda B et al. Genome-wide association study identifies a common variant associated with risk of endometrial cancer. In: Nature Genetics, 2011, vol. 43, n° 5, p. 451-4. https://archive-ouverte.unige.ch/unige:32207

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Deposited on : 2013-12-16

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