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https://repository.monashhealth.org/monashhealthjspui/handle/1/37317| Title: | Identification of nine new susceptibility loci for endometrial cancer. | Authors: | Fung J.;Chanock S.J.;Chen C. ;Chen M.M.;Ashton K.;Milne R.L.;Mints M.;Montgomery G.W.;Nassir R.;Olsson H.;Orlow I.;Otton G.;Palles C.;Perry J.R.B.;Peto J.;Pooler L.;Prescott J.;Proietto T.;Rebbeck T.R.;Risch H.A.;Rogers P.A.W.;Rubner M.;Runnebaum I.;Sacerdote C.;Sarto G.E.;Schumacher F.;Scott R.J.;Setiawan V.W.;Shah M.;Sheng X.;Shu X.-O.;Southey M.C.;Swerdlow A.J.;Tham E.;Trovik J.;Turman C.;Tyrer J.P.;Vachon C.;VanDen Berg D.;Vanderstichele A.;Wang Z.;Webb P.M.;Wentzensen N.;Werner H.M.J.;Winham S.J.;Wolk A.;Xia L.;Xiang Y.-B.;Yang H.P.;Yu H.;Zheng W.;Pharoah P.D.P.;Dunning A.M.;Kraft P.;De Vivo I.;Tomlinson I.;Easton D.F.;Spurdle A.B.;Thompson D.J.;Jones A. ;O'Mara T.A.;Glubb D.M.;Amant F.;Annibali D.;Attia J.;Auer P.L.;Beckmann M.W.;Black A.;Bolla M.K.;Brauch H.;Brenner H.;Brinton L.;Buchanan D.D.;Burwinkel B.;Cheng T.H.T.;Clarke C.L.;Clendenning M.;Cook L.S.;Couch F.J.;Cox A.;Crous-Bous M.;Czene K.;Day F.;Dennis J.;Depreeuw J.;Doherty J.A.;Dork T.;Dowdy S.C.;Durst M.;Ekici A.B.;Fasching P.A.;Fridley B.L.;Friedenreich C.M.;Fritschi L.;Chang-Claude J.;Garcia-Closas M.;Gaudet M.M.;Giles G.G.;Goode E.L.;Gorman M.;Haiman C.A.;Hall P.;Hankison S.E.;Healey C.S.;Hein A.;Hillemanns P.;Hodgson S.;Hoivik E.A.;Holliday E.G.;Hopper J.L.;Hunter D.J.;Krakstad C.;Kristensen V.N.;Lambrechts D.;Marchand L.L.;Liang X.;Lindblom A.;Lissowska J.;Long J.;Lu L.;Magliocco A.M.;Martin L.;McEvoy M.;Meindl A.;Michailidou K. | Institution: | (O'Mara, Glubb, Montgomery, Spurdle) Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia (Amant, Annibali, Depreeuw) Department of Obstetrics and Gynecology, University Hospitals KU Leuven, University of Leuven, Division of Gynecologic Oncology, Leuven 3000, Belgium (Ashton, Attia, Holliday, Scott) John Hunter Hospital, Hunter Medical Research Institute, Newcastle, NSW 2305, Australia (Ashton, Scott) University of Newcastle, Centre for Information Based Medicine, Callaghan, NSW 2308, Australia (Ashton, Scott) University of Newcastle, Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health, Callaghan, NSW 2308, Australia (Attia, Holliday, McEvoy) University of Newcastle, Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, Callaghan, NSW 2308, Australia (Auer) Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, United States (Auer) University of Wisconsin-Milwaukee, Zilber School of Public Health, Milwaukee, WI 53205, United States (Beckmann, Fasching, Hein) Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Comprehensive Cancer Center ER-EMN, Erlangen 91054, Germany (Black, Brinton, Chanock, Garcia-Closas, Wang, Wentzensen, Yang) National Cancer Institute, Division of Cancer Epidemiology and Genetics, Bethesda, MD 20892, United States (Bolla, Dennis, Michailidou, Pharoah, Easton, Thompson) Department of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge CB1 8RN, United Kingdom (Brauch) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart 70376, Germany (Brauch) University of Tubingen, Tubingen 72074, Germany (Brauch, Brenner) German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg 69120, Germany (Brenner) Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany (Brenner) Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg 69120, Germany (Buchanan, Clendenning, Southey) Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia (Buchanan, Giles, Hopper, Milne) The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, VIC 3010, Australia (Buchanan) Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, VIC 3010, Australia (Buchanan, Clendenning) Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC 3010, Australia (Burwinkel) Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg 69120, Germany (Burwinkel) Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany (Chang-Claude) Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany (Chang-Claude) University Medical Center Hamburg-Eppendorf, Cancer Epidemiology, University Cancer Center Hamburg (UCCH), Hamburg 20246, Germany (Chen) Epidemiology Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, United States (Chen, Crous-Bous, Hunter, Turman, Kraft, De Vivo) Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States (Cheng, Gorman, Jones, Palles, Tomlinson) University of Oxford, Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, Oxford OX3 7BN, United Kingdom (Clarke) University of Sydney, Westmead Institute for Medical Research, Sydney, NSW 2145, Australia (Cook) University of New Mexico, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, United States (Cook, Friedenreich) Department of Cancer Epidemiology and Prevention Research, Alberta Health Services, Calgary, AB T2N 4N2, Canada (Couch) Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States (Cox) Department of Oncology and Metabolism, University of Sheffield, Sheffield Institute for Nucleic Acids (SInFoNiA), Sheffield S10 2TN, United Kingdom (Crous-Bous, Hankison, Prescott, De Vivo) Department of Medicine, Harvard Medical School, Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, United States (Czene, Hall) Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 171 65, Sweden (Day, Perry) University of Cambridge, MRC Epidemiology Unit, School of Clinical Medicine, Cambridge CB2 0QQ, United Kingdom (Depreeuw) VIB, Vesalius Research Center, Leuven 3000, Belgium (Depreeuw, Lambrechts) Department of Human Genetics, University of Leuven, Laboratory for Translational Genetics, Leuven 3000, Belgium (Doherty) Cancer Research Huntsman Cancer Institute Department of Population Health Sciences, University of Utah, Salt Lake City, UT 84112, United States (Dork, Hillemanns) Gynaecology Research Unit, Hannover Medical School, Hannover 30625, Germany (Dowdy) Department of Obstetrics and Gynecology, Mayo Clinic, Division of Gynecologic Oncology, Rochester, MN 55905, United States (Durst, Runnebaum) Department of Gynaecology, Jena University Hospital - Friedrich Schiller University, Jena 07743, Germany (Ekici) Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Institute of Human Genetics, University Hospital Erlangen, Erlangen 91054, Germany (Fasching) Department of Medicine, University of California at Los Angeles, David Geffen School of Medicine, Division of Hematology and Oncology, Los Angeles, CA 90095, United States (Fridley) Department of Biostatistics, Kansas University Medical Center, Kansas City, KS 66160, United States (Fritschi) Curtin University, School of Public Health, Perth, WA 6102, Australia (Fung, Montgomery) University of Queensland, Institute for Molecular Bioscience, Brisbane, QLD 4072, Australia (Garcia-Closas) Institute of Cancer Research, Division of Genetics and Epidemiology, London SM2 5NG, United Kingdom (Gaudet) American Cancer Society, Epidemiology Research Program, Atlanta, GA 30303, United States (Giles, Milne) Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, VIC 3004, Australia (Giles) Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC 3004, Australia (Goode) Department of Health Science Research, Mayo Clinic, Division of Epidemiology, Rochester, MN 55905, United States (Haiman, Pooler, Setiawan, Sheng, VanDen Berg, Xia) Department of Preventive Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA 90033, United States (Hall) Department of Oncology, South General Hospital, Stockholm 118 83, Sweden (Hankison) Department of Biostatistics and Epidemiology, University of Massachusetts, Amherst, Amherst, MA 01003, United States (Healey, Shah, Tyrer, Pharoah, Dunning, Easton) Department of Oncology, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge CB1 8RN, United Kingdom (Hodgson) Department of Clinical Genetics, St George's, University of London, London SW17 0RE, United Kingdom (Hoivik, Krakstad, Trovik, Werner) Department of Clinical Science, University of Bergen, Centre for Cancer Biomarkers, Bergen 5020, Norway (Hoivik, Krakstad, Trovik, Werner) Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen 5021, Norway (Hunter, Kraft) Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States (Kristensen) Department of Cancer Genetics, Oslo University Hospital, Radiumhospitalet, Institute for Cancer Research, Oslo 0379, Norway (Kristensen) University of Oslo, Institute of Clinical Medicine, Faculty of Medicine, Oslo 0450, Norway (Kristensen) Department of Clinical Molecular Biology, University of Oslo, Oslo University Hospital, Oslo 0450, Norway (Lambrechts) VIB, VIB Center for Cancer Biology, Leuven 3001, Belgium (Marchand, Yu) Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, United States (Liang, Orlow) Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, United States (Lindblom, Tham) Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 171 76, Sweden (Lissowska) Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Cancer Center-Oncology Institute, Warsaw 02-034, Poland (Long, Shu, Zheng) Department of Medicine, Vanderbilt University School of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN 37232, United States (Lu, Risch) Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06510, United States (Magliocco) Department of Anatomic Pathology, Moffitt Cancer Center and Research Institute, Tampa, FL 33612, United States (Martin, Tomlinson) University of Birmingham, Institute of Cancer and Genomic Sciences, Birmingham B15 2TT, United Kingdom (Meindl) Department of Gynecology and Obstetrics, Ludwig-Maximilians University of Munich, Munich 80336, Germany (Michailidou) Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus (Mints) Department of Women's and Children's Health, Karolinska Institutet, Stockholm 171 76, Sweden (Nassir) Department of Biochemistry and Molecular Medicine, University of California Davis, Davis, CA 95817, United States (Olsson) Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund 222 42, Sweden (Otton, Proietto) University of Newcastle, School of Medicine and Public Health, Callaghan, NSW 2308, Australia (Peto) Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, United Kingdom (Rebbeck) Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States (Rebbeck) Dana-Farber Cancer Institute, Boston, MA 02115, United States (Rogers) Department of Obstetrics and Gynaecology, University of Melbourne, Royal Women's Hospital, Gynaecology Research Centre, Parkville, VIC 3052, Australia (Rubner) Department of Gynaecology and Obstetrics, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Erlangen 91054, Germany (Sacerdote) Center for Cancer Prevention (CPO-Peimonte), Turin 10126, Italy (Sacerdote) Human Genetics Foundation (HuGeF), Turino 10126, Italy (Sarto) Department of Obstetrics and Gynecology, University of Wisconsin, School of Medicine and Public Health, Madison, WI 53715, United States (Schumacher) Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, United States (Scott) John Hunter Hospital, Division of Molecular Medicine, Pathology North, Newcastle, NSW 2308, Australia (Southey) Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC 3168, Australia (Swerdlow) Division of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, United Kingdom (Swerdlow) Division of Breast Cancer Research, The Institute of Cancer Research, London SW7 3RP, United Kingdom (Tham) Karolinska Institutet, Clinical Genetics, Stockholm 171 76, Sweden (Vachon) Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, United States (Vanderstichele) Department of Obstetrics and Gynaecology, University Hospitals Leuven, Division of Gynecologic Oncology, Leuven Cancer Institute, Leuven 3000, Belgium (Webb) Department of Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia (Winham) Department of Health Science Research, Mayo Clinic, Division of Biomedical Statistics and Informatics, Rochester, MN 55905, United States (Wolk) Department of Environmental Medicine, Karolinska Institutet, Division of Nutritional Epidemiology, Stockholm 171 77, Sweden (Xiang) Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, State Key Laboratory of Oncogene and Related Genes, Shanghai, China | Issue Date: | 23-Aug-2018 | Copyright year: | 2018 | Publisher: | Nature Publishing Group (Houndmills, Basingstoke, Hampshire RG21 6XS, United Kingdom) | Place of publication: | United Kingdom | Publication information: | Nature Communications. 9 (1) (no pagination), 2018. Article Number: 3166. Date of Publication: 01 Dec 2018. | Journal: | Nature Communications | Abstract: | Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer. At five loci, expression quantitative trait locus (eQTL) analyses identify candidate causal genes; risk alleles at two of these loci associate with decreased expression of genes, which encode negative regulators of oncogenic signal transduction proteins (SH2B3 (12q24.12) and NF1 (17q11.2)). In summary, this study has doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study.Copyright © 2018, The Author(s). | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1038/s41467-018-05427-7 | ORCID: | O'Mara, Tracy A.; ORCID: http://orcid.org/0000-0002-5436-3232 Glubb, Dylan M.; ORCID: http://orcid.org/0000-0002-2184-7708 Montgomery, Grant W.; ORCID: http://orcid.org/0000-0002-4140-8139 Annibali, Daniela; ORCID: http://orcid.org/0000-0001-8413-7669 Attia, John; ORCID: http://orcid.org/0000-0001-9800-1308 Fasching, Peter A.; ORCID: http://orcid.org/0000-0003-4885-8471 Hein, Alexander; ORCID: http://orcid.org/0000-0003-2601-3398 Dennis, Joe; ORCID: http://orcid.org/0000-0003-4591-1214 Michailidou, Kyriaki; ORCID: http://orcid.org/0000-0001-7065-1237 Pharoah, Paul D. P.; ORCID: http://orcid.org/0000-0001-8494-732X Easton, Douglas F.; ORCID: http://orcid.org/0000-0003-2444-3247 Thompson, Deborah J.; ORCID: http://orcid.org/0000-0003-1465-5799 Brauch, Hiltrud; ORCID: http://orcid.org/0000-0001-7531-2736 Buchanan, Daniel D.; ORCID: http://orcid.org/0000-0003-2225-6675 Milne, Roger L.; ORCID: http://orcid.org/0000-0001-5764-7268 Tomlinson, Ian; ORCID: http://orcid.org/0000-0003-3037-1470 Friedenreich, Christine M.; ORCID: http://orcid.org/0000-0002-4783-1966 Day, Felix; ORCID: http://orcid.org/0000-0003-3789-7651 Yu, Herbert; ORCID: http://orcid.org/0000-0003-3950-4815 Zheng, Wei; ORCID: http://orcid.org/0000-0003-1226-070X Lu, Lingeng; ORCID: http://orcid.org/0000-0001-9871-0809 Martin, Lynn; ORCID: http://orcid.org/0000-0003-3962-389X Webb, Penelope M.; ORCID: http://orcid.org/0000-0003-0733-5930 Wolk, Alicja; ORCID: http://orcid.org/0000-0001-7387-6845 | PubMed URL: | 30093612 [http://www.ncbi.nlm.nih.gov/pubmed/?term=30093612] | ISSN: | 2041-1723 (electronic) | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/37317 | Type: | Article |
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