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

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; 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

doi:10.1038/ng.812

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

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, 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

School of Health Sciences

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131 Citations (Scopus)

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 Ã— 10-10) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.

Original language	English
Pages (from-to)	451-455
Number of pages	5
Journal	Nature Genetics
Volume	43
Issue number	5
DOIs	https://doi.org/10.1038/ng.812
Publication status	Published - 2011

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Spurdle, A. B., Thompson, D. J., Ahmed, S., Ferguson, K., Healey, C. S., O'Mara, T., Walker, L. C., Montgomery, S. B., Dermitzakis, E. T., Fahey, P., Montgomery, G. W., Webb, P. M., Fasching, P. A., Beckmann, M. W., Ekici, A. B., Hein, A., Lambrechts, D., Coenegrachts, L., Vergote, I., & Amant, F. (2011). Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nature Genetics, 43(5), 451-455. https://doi.org/10.1038/ng.812

@article{1e09f84d17234e5ca0802b5a99684e38,

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 {\~A}— 10-10) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.",

author = "Spurdle, {Amanda B.} and Thompson, {Deborah J.} and Shahana Ahmed and Kaltin Ferguson and Healey, {Catherine S.} and Tracy O'Mara and Walker, {Logan C.} and Montgomery, {Stephen B.} and Dermitzakis, {Emmanouil T.} and Paul Fahey and Montgomery, {Grant W.} and Webb, {Penelope M.} and Fasching, {Peter A.} and Beckmann, {Matthias W.} and Ekici, {Arif B.} and Alexander Hein and Diether Lambrechts and Lieve Coenegrachts and Ignace Vergote and Frederic Amant",

year = "2011",

doi = "10.1038/ng.812",

language = "English",

volume = "43",

pages = "451--455",

journal = "Nature Genetics",

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Spurdle, AB, Thompson, DJ, Ahmed, S, Ferguson, K, Healey, CS, O'Mara, T, Walker, LC, Montgomery, SB, Dermitzakis, ET, Fahey, P, Montgomery, GW, Webb, PM, Fasching, PA, Beckmann, MW, Ekici, AB, Hein, A, Lambrechts, D, Coenegrachts, L, Vergote, I & Amant, F 2011, 'Genome-wide association study identifies a common variant associated with risk of endometrial cancer', Nature Genetics, vol. 43, no. 5, pp. 451-455. https://doi.org/10.1038/ng.812

TY - JOUR

T1 - Genome-wide association study identifies a common variant associated with risk of endometrial cancer

AU - Spurdle, Amanda B.

AU - Thompson, Deborah J.

AU - Ahmed, Shahana

AU - Ferguson, Kaltin

AU - Healey, Catherine S.

AU - O'Mara, Tracy

AU - Walker, Logan C.

AU - Montgomery, Stephen B.

AU - Dermitzakis, Emmanouil T.

AU - Fahey, Paul

AU - Montgomery, Grant W.

AU - Webb, Penelope M.

AU - Fasching, Peter A.

AU - Beckmann, Matthias W.

AU - Ekici, Arif B.

AU - Hein, Alexander

AU - Lambrechts, Diether

AU - Coenegrachts, Lieve

AU - Vergote, Ignace

AU - Amant, Frederic

PY - 2011

Y1 - 2011

N2 - 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 Ã— 10-10) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.

AB - 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 Ã— 10-10) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.

UR - http://handle.uws.edu.au:8081/1959.7/557364

U2 - 10.1038/ng.812

DO - 10.1038/ng.812

M3 - Article

C2 - 21499250

SN - 1061-4036

VL - 43

SP - 451

EP - 455

JO - Nature Genetics

JF - Nature Genetics

IS - 5

ER -

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

Abstract

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