Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
26237428
TITLE
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
ABSTRACT
Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10(-8)), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.
DATE PUBLISHED
2015 Sep
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2014/12/18
accepted 2015/07/09
entrez 2015/08/04 06:00
pubmed 2015/08/04 06:00
medline 2016/01/14 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Law MH Law Matthew H MH Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Bishop DT Bishop D Timothy DT Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Lee JE Lee Jeffrey E JE Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Brossard M Brossard Myriam M Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
Martin NG Martin Nicholas G NG Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Moses EK Moses Eric K EK Centre for Genetic Origins of Health and Disease, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, Western Australia, Australia.
Song F Song Fengju F Departments of Epidemiology and Biostatistics, Key Laboratory of Cancer Prevention and Therapy, Tianjin, National Clinical Research Center of Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin, P. R. China.
Barrett JH Barrett Jennifer H JH Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Kumar R Kumar Rajiv R Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, Heidelberg Germany.
Easton DF Easton Douglas F DF Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Pharoah PDP Pharoah Paul D P PDP Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Swerdlow AJ Swerdlow Anthony J AJ Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
Kypreou KP Kypreou Katerina P KP Department of Dermatology, University of Athens School of Medicine, Andreas Sygros Hospital, Athens, Greece.
Taylor JC Taylor John C JC Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Harland M Harland Mark M Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Randerson-Moor J Randerson-Moor Juliette J Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Akslen LA Akslen Lars A LA Department of Pathology, Haukeland University Hospital, Bergen, Norway.
Andresen PA Andresen Per A PA Department of Pathology, Molecular Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Avril MF Avril Marie-Françoise MF Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Service de Dermatologie, Université Paris Descartes, Paris, France.
Azizi E Azizi Esther E Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Scarrà GB Scarrà Giovanna Bianchi GB Laboratory of Genetics of Rare Cancers, Istituto di ricovero e cura a carattere scientifico Azienda Ospedaliera Universitaria (IRCCS AOU) San Martino-IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.
Brown KM Brown Kevin M KM Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Dębniak T Dębniak Tadeusz T International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Duffy DL Duffy David L DL Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Elder DE Elder David E DE Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Fang S Fang Shenying S Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Friedman E Friedman Eitan E Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Galan P Galan Pilar P Université Paris 13, Equipe de Recherche en Epidémiologie Nutritionnelle (EREN), Centre de Recherche en Epidémiologie et Statistiques, Institut National de la Santé et de la Recherche Médicale (INSERM U1153), Institut National de la Recherche Agronomique (INRA U1125), Conservatoire National des Arts et Métiers, Communauté d'Université Sorbonne Paris Cité, F-93017 Bobigny, France.
Ghiorzo P Ghiorzo Paola P Laboratory of Genetics of Rare Cancers, Istituto di ricovero e cura a carattere scientifico Azienda Ospedaliera Universitaria (IRCCS AOU) San Martino-IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.
Gillanders EM Gillanders Elizabeth M EM Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA.
Goldstein AM Goldstein Alisa M AM Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Gruis NA Gruis Nelleke A NA Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.
Hansson J Hansson Johan J Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Helsing P Helsing Per P Department of Dermatology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Hočevar M Hočevar Marko M Department of Surgical Oncology, Institute of Oncology Ljubljana, Ljubljana, Slovenia.
Höiom V Höiom Veronica V Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Ingvar C Ingvar Christian C Department of Surgery, Clinical Sciences, Lund University, Lund, Sweden.
Kanetsky PA Kanetsky Peter A PA Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.
Chen WV Chen Wei V WV Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
GenoMEL Consortium
Essen-Heidelberg Investigators
SDH Study Group
Q-MEGA and QTWIN Investigators
AMFS Investigators
ATHENS Melanoma Study Group
Landi MT Landi Maria Teresa MT Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Lang J Lang Julie J Department of Medical Genetics, University of Glasgow, Glasgow, UK.
Lathrop GM Lathrop G Mark GM McGill University and Genome Quebec Innovation Centre, Montreal, Canada.
Lubiński J Lubiński Jan J International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Mackie RM Mackie Rona M RM Department of Medical Genetics, University of Glasgow, Glasgow, UK.
Mann GJ Mann Graham J GJ Centre for Cancer Research, University of Sydney at Westmead, Millennium Institute for Medical Research and Melanoma Institute Australia, Sydney, Australia.
Molven A Molven Anders A Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Montgomery GW Montgomery Grant W GW Molecular Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Novaković S Novaković Srdjan S Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Ljubljana, Slovenia.
Olsson H Olsson Håkan H Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Puig S Puig Susana S Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.
Puig-Butille JA Puig-Butille Joan Anton JA Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.
Qureshi AA Qureshi Abrar A AA Department of Dermatology, The Warren Alpert Medical School of Brown University, Rhode Island, USA.
Radford-Smith GL Radford-Smith Graham L GL University of Queensland School of Medicine, Herston Campus, Brisbane, Australia.
van der Stoep N van der Stoep Nienke N Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Doorn R van Doorn Remco R Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.
Whiteman DC Whiteman David C DC Cancer Control Group, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Craig JE Craig Jamie E JE Department of Ophthalmology, Flinders University, Adelaide, Australia.
Schadendorf D Schadendorf Dirk D German Consortium Translational Cancer Research (DKTK), Heidelberg, Germany.
Simms LA Simms Lisa A LA Inflammatory Bowel Diseases, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Burdon KP Burdon Kathryn P KP Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Nyholt DR Nyholt Dale R DR Molecular Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Pooley KA Pooley Karen A KA Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Orr N Orr Nick N Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Stratigos AJ Stratigos Alexander J AJ Department of Dermatology, University of Athens School of Medicine, Andreas Sygros Hospital, Athens, Greece.
Cust AE Cust Anne E AE Cancer Epidemiology and Services Research, Sydney School of Public Health, The University of Sydney, Australia.
Ward SV Ward Sarah V SV Centre for Genetic Origins of Health and Disease, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, Western Australia, Australia.
Hayward NK Hayward Nicholas K NK Oncogenomics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Han J Han Jiali J Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana, USA.
Schulze HJ Schulze Hans-Joachim HJ Department of Dermatology, Fachklinik Hornheide, Institute for Tumors of the Skin at the University of Münster, Münster, Germany.
Dunning AM Dunning Alison M AM Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Bishop JAN Bishop Julia A Newton JAN Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Demenais F Demenais Florence F Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
Amos CI Amos Christopher I CI Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Hanover, New Hampshire, USA.
MacGregor S MacGregor Stuart S Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Iles MM Iles Mark M MM Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
INVESTIGATORS
JOURNAL
VOLUME: 47
ISSUE: 9
TITLE: Nature genetics
ISOABBREVIATION: Nat Genet
YEAR: 2015
MONTH: Sep
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Meta-Analysis
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
R03 CA167741 NCI NIH HHS United States
R01 CA133996 NCI NIH HHS United States
R01 CA083115 NCI NIH HHS United States
UL1 TR001108 NCATS NIH HHS United States
P30 CA023108 NCI NIH HHS United States
A4994 Cancer Research UK United Kingdom
R01 CA122838 NCI NIH HHS United States
R01 CA088363 NCI NIH HHS United States
A10589 Cancer Research UK United Kingdom
P50 CA093459 NCI NIH HHS United States
10589 Cancer Research UK United Kingdom
R01 CA100264 NCI NIH HHS United States
MR/L01629X/1 Medical Research Council United Kingdom
10124 Cancer Research UK United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Case-Control Studies
Chromosomes, Human genetics
Genetic Loci genetics
Genetic Predisposition to Disease genetics
Genome-Wide Association Study genetics
Humans genetics
Melanoma genetics
Polymorphism, Single Nucleotide genetics
Skin Neoplasms genetics
SUPPLEMENTARY MESH
SUPPLMESHNAME SUPPLMESHTYPE
Melanoma, Cutaneous Malignant Disease
GENE SYMBOLS
CHEMICALS
OTHER ID's
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