4.8 Article

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

Journal

NATURE GENETICS
Volume 43, Issue 5, Pages 451-+

Publisher

NATURE PORTFOLIO
DOI: 10.1038/ng.812

Keywords

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Funding

  1. National Health and Medical Research Council (NHMRC) [552402, 339435]
  2. Wellcome Trust [068545/Z/02, 085475]
  3. Cancer Research UK [C1287/A10118, C490/A1021, C8197/A10865, C8197/A10123, C490/A10124]
  4. Australian Postgraduate Award
  5. Institute of Health and Biomedical Innovation
  6. Joseph Mitchell Trust
  7. Dr. Mildred Scheel Stiftung of the Deutsche Krebshilfe (German Cancer Aid)
  8. Medical Research Council [G0000934]
  9. Cancer Council Queensland [4196615]
  10. Cancer Council Tasmania [403031, 457636]
  11. University of Erlangen
  12. Verelst Foundation for endometrial cancer
  13. Helse Vest Grant
  14. University of Bergen
  15. Melzer Foundation
  16. Norwegian Cancer Society (Harald Andersens legat)
  17. Research Council of Norway
  18. Haukeland University Hospital
  19. Oxford Comprehensive Biomedical Research Centre [075491/Z/04]
  20. US National Cancer Institute, Division of Cancer Epidemiology and Genetics in the Hormonal and Reproductive Epidemiology Branch
  21. Agency for Science, Technology and Research of Singapore (A*STAR)
  22. US National Institutes of Health (NIH)
  23. Susan G. Komen Breast Cancer Foundation
  24. National Cancer Institute of the United States Public Health Service [RO1 CA 092585, R01 CA90899, R01 CA64277]
  25. Cancer Research UK [11021, 10118, 11022] Funding Source: researchfish
  26. The Francis Crick Institute
  27. Cancer Research UK [10124, 10119] Funding Source: researchfish

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

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