title: Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
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.
authors.affiliation: Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. amanda.spurdle@qimr.edu.au
authors.forename: Amanda B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Thompson
authors.forename: Shahana
authors.initials: S
authors.lastname: Ahmed
authors.forename: Kaltin
authors.initials: K
authors.lastname: Ferguson
authors.forename: Catherine S
authors.initials: CS
authors.lastname: Healey
authors.forename: Tracy
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authors.lastname: O'Mara
authors.forename: Logan C
authors.initials: LC
authors.lastname: Walker
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Montgomery
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
authors.forename: Paul
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authors.lastname: Fahey
authors.forename: Grant W
authors.initials: GW
authors.lastname: Montgomery
authors.forename: Penelope M
authors.initials: PM
authors.lastname: Webb
authors.forename: Peter A
authors.initials: PA
authors.lastname: Fasching
authors.forename: Matthias W
authors.initials: MW
authors.lastname: Beckmann
authors.forename: Arif B
authors.initials: AB
authors.lastname: Ekici
authors.forename: Alexander
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authors.lastname: Hein
authors.forename: Diether
authors.initials: D
authors.lastname: Lambrechts
authors.forename: Lieve
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authors.lastname: Coenegrachts
authors.forename: Ignace
authors.initials: I
authors.lastname: Vergote
authors.forename: Frederic
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authors.lastname: Amant
authors.forename: Helga B
authors.initials: HB
authors.lastname: Salvesen
authors.forename: Jone
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authors.lastname: Trovik
authors.forename: Tormund S
authors.initials: TS
authors.lastname: Njolstad
authors.forename: Harald
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authors.lastname: Helland
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Katie
authors.initials: K
authors.lastname: Ashton
authors.forename: Tony
authors.initials: T
authors.lastname: Proietto
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Otton
authors.forename: Ian
authors.initials: I
authors.lastname: Tomlinson
authors.forename: Maggie
authors.initials: M
authors.lastname: Gorman
authors.forename: Kimberley
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authors.lastname: Howarth
authors.forename: Shirley
authors.initials: S
authors.lastname: Hodgson
authors.forename: Montserrat
authors.initials: M
authors.lastname: Garcia-Closas
authors.forename: Nicolas
authors.initials: N
authors.lastname: Wentzensen
authors.forename: Hannah
authors.initials: H
authors.lastname: Yang
authors.forename: Stephen
authors.initials: S
authors.lastname: Chanock
authors.forename: Per
authors.initials: P
authors.lastname: Hall
authors.forename: Kamila
authors.initials: K
authors.lastname: Czene
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.forename: Jingmei
authors.initials: J
authors.lastname: Li
authors.forename: Xiao-Ou
authors.initials: XO
authors.lastname: Shu
authors.forename: Wei
authors.initials: W
authors.lastname: Zheng
authors.forename: Jirong
authors.initials: J
authors.lastname: Long
authors.forename: Yong-Bing
authors.initials: YB
authors.lastname: Xiang
authors.forename: Mitul
authors.initials: M
authors.lastname: Shah
authors.forename: Jonathan
authors.initials: J
authors.lastname: Morrison
authors.forename: Kyriaki
authors.initials: K
authors.lastname: Michailidou
authors.forename: Paul D
authors.initials: PD
authors.lastname: Pharoah
authors.forename: Alison M
authors.initials: AM
authors.lastname: Dunning
authors.forename: Douglas F
authors.initials: DF
authors.lastname: Easton
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011471:Prostatic Neoplasms / Q000235:genetics; D012307:Risk Factors; D055815:Young Adult
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta