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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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.
authors.affiliation: Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: Matthew H
authors.initials: MH
authors.lastname: Law
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
authors.forename: D Timothy
authors.initials: DT
authors.lastname: Bishop
authors.affiliation: Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors.forename: Jeffrey E
authors.initials: JE
authors.lastname: Lee
authors.affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM), UMR-946, Genetic Variation and Human Diseases Unit, Paris, France.|Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
authors.forename: Myriam
authors.initials: M
authors.lastname: Brossard
authors.affiliation: Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: Nicholas G
authors.initials: NG
authors.lastname: Martin
authors.affiliation: Centre for Genetic Origins of Health and Disease, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, Western Australia, Australia.
authors.forename: Eric K
authors.initials: EK
authors.lastname: Moses
authors.affiliation: 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.
authors.forename: Fengju
authors.initials: F
authors.lastname: Song
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
authors.forename: Jennifer H
authors.initials: JH
authors.lastname: Barrett
authors.affiliation: Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, Heidelberg Germany.
authors.forename: Rajiv
authors.initials: R
authors.lastname: Kumar
authors.affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
authors.forename: Douglas F
authors.initials: DF
authors.lastname: Easton
authors.affiliation: Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
authors.forename: Paul D P
authors.initials: PDP
authors.lastname: Pharoah
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.|Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Swerdlow
authors.affiliation: Department of Dermatology, University of Athens School of Medicine, Andreas Sygros Hospital, Athens, Greece.
authors.forename: Katerina P
authors.initials: KP
authors.lastname: Kypreou
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
authors.forename: John C
authors.initials: JC
authors.lastname: Taylor
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Harland
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
authors.forename: Juliette
authors.initials: J
authors.lastname: Randerson-Moor
authors.affiliation: Centre for Cancer Biomarkers CCBIO, Department of Clinical Medicine, University of Bergen, Bergen, Norway.|Department of Pathology, Haukeland University Hospital, Bergen, Norway.
authors.forename: Lars A
authors.initials: LA
authors.lastname: Akslen
authors.affiliation: Department of Pathology, Molecular Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
authors.forename: Per A
authors.initials: PA
authors.lastname: Andresen
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Service de Dermatologie, Université Paris Descartes, Paris, France.
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Avril
authors.affiliation: Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv, Israel.|Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Esther
authors.initials: E
authors.lastname: Azizi
authors.affiliation: Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.|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.
authors.forename: Giovanna Bianchi
authors.initials: GB
authors.lastname: Scarrà
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Brown
authors.affiliation: International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Dębniak
authors.affiliation: Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: David L
authors.initials: DL
authors.lastname: Duffy
authors.affiliation: Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: David E
authors.initials: DE
authors.lastname: Elder
authors.affiliation: Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors.forename: Shenying
authors.initials: S
authors.lastname: Fang
authors.affiliation: Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
authors.affiliation: 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.
authors.forename: Pilar
authors.initials: P
authors.lastname: Galan
authors.affiliation: Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.|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.
authors.forename: Paola
authors.initials: P
authors.lastname: Ghiorzo
authors.affiliation: Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA.
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Gillanders
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Alisa M
authors.initials: AM
authors.lastname: Goldstein
authors.affiliation: Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: Nelleke A
authors.initials: NA
authors.lastname: Gruis
authors.affiliation: Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Johan
authors.initials: J
authors.lastname: Hansson
authors.affiliation: Department of Dermatology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
authors.forename: Per
authors.initials: P
authors.lastname: Helsing
authors.affiliation: Department of Surgical Oncology, Institute of Oncology Ljubljana, Ljubljana, Slovenia.
authors.forename: Marko
authors.initials: M
authors.lastname: Hočevar
authors.affiliation: Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Veronica
authors.initials: V
authors.lastname: Höiom
authors.affiliation: Department of Surgery, Clinical Sciences, Lund University, Lund, Sweden.
authors.forename: Christian
authors.initials: C
authors.lastname: Ingvar
authors.affiliation: Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.
authors.forename: Peter A
authors.initials: PA
authors.lastname: Kanetsky
authors.affiliation: Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors.forename: Wei V
authors.initials: WV
authors.lastname: Chen
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Landi
authors.affiliation: Department of Medical Genetics, University of Glasgow, Glasgow, UK.
authors.forename: Julie
authors.initials: J
authors.lastname: Lang
authors.affiliation: McGill University and Genome Quebec Innovation Centre, Montreal, Canada.
authors.forename: G Mark
authors.initials: GM
authors.lastname: Lathrop
authors.affiliation: International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
authors.affiliation: Department of Public Health, University of Glasgow, Glasgow UK.|Department of Medical Genetics, University of Glasgow, Glasgow, UK.
authors.forename: Rona M
authors.initials: RM
authors.lastname: Mackie
authors.affiliation: Centre for Cancer Research, University of Sydney at Westmead, Millennium Institute for Medical Research and Melanoma Institute Australia, Sydney, Australia.
authors.forename: Graham J
authors.initials: GJ
authors.lastname: Mann
authors.affiliation: Department of Pathology, Haukeland University Hospital, Bergen, Norway.|Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
authors.forename: Anders
authors.initials: A
authors.lastname: Molven
authors.affiliation: Molecular Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: Grant W
authors.initials: GW
authors.lastname: Montgomery
authors.affiliation: Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Ljubljana, Slovenia.
authors.forename: Srdjan
authors.initials: S
authors.lastname: Novaković
authors.affiliation: Department of Oncology/Pathology, Clinical Sciences, Lund University, Lund; Sweden.|Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
authors.forename: Håkan
authors.initials: H
authors.lastname: Olsson
authors.affiliation: Melanoma Unit, Dermatology Department & Biochemistry and Molecular Genetics Departments, Hospital Clinic, Institut de Investigacó Biomèdica August Pi Suñe, Universitat de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: Puig
authors.affiliation: Melanoma Unit, Dermatology Department & Biochemistry and Molecular Genetics Departments, Hospital Clinic, Institut de Investigacó Biomèdica August Pi Suñe, Universitat de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Joan Anton
authors.initials: JA
authors.lastname: Puig-Butille
authors.affiliation: Department of Dermatology, The Warren Alpert Medical School of Brown University, Rhode Island, USA.
authors.forename: Abrar A
authors.initials: AA
authors.lastname: Qureshi
authors.affiliation: Inflammatory Bowel Diseases, QIMR Berghofer Medical Research Institute, Brisbane, Australia.|Department of Gastroenterology and Hepatology, Royal Brisbane & Women's Hospital, Brisbane, Australia.|University of Queensland School of Medicine, Herston Campus, Brisbane, Australia.
authors.forename: Graham L
authors.initials: GL
authors.lastname: Radford-Smith
authors.affiliation: Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Nienke
authors.initials: N
authors.lastname: van der Stoep
authors.affiliation: Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: Remco
authors.initials: R
authors.lastname: van Doorn
authors.affiliation: Cancer Control Group, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: David C
authors.initials: DC
authors.lastname: Whiteman
authors.affiliation: Department of Ophthalmology, Flinders University, Adelaide, Australia.
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.affiliation: Department of Dermatology, University Hospital Essen, Essen, Germany.|German Consortium Translational Cancer Research (DKTK), Heidelberg, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Schadendorf
authors.affiliation: Inflammatory Bowel Diseases, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Simms
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.affiliation: Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia.|Molecular Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: Dale R
authors.initials: DR
authors.lastname: Nyholt
authors.affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
authors.forename: Karen A
authors.initials: KA
authors.lastname: Pooley
authors.affiliation: Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
authors.forename: Nick
authors.initials: N
authors.lastname: Orr
authors.affiliation: Department of Dermatology, University of Athens School of Medicine, Andreas Sygros Hospital, Athens, Greece.
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Stratigos
authors.affiliation: Cancer Epidemiology and Services Research, Sydney School of Public Health, The University of Sydney, Australia.
authors.forename: Anne E
authors.initials: AE
authors.lastname: Cust
authors.affiliation: Centre for Genetic Origins of Health and Disease, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, Western Australia, Australia.
authors.forename: Sarah V
authors.initials: SV
authors.lastname: Ward
authors.affiliation: Oncogenomics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: Nicholas K
authors.initials: NK
authors.lastname: Hayward
authors.affiliation: Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, Indiana, USA.|Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana, USA.
authors.forename: Jiali
authors.initials: J
authors.lastname: Han
authors.affiliation: Department of Dermatology, Fachklinik Hornheide, Institute for Tumors of the Skin at the University of Münster, Münster, Germany.
authors.forename: Hans-Joachim
authors.initials: HJ
authors.lastname: Schulze
authors.affiliation: Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
authors.forename: Alison M
authors.initials: AM
authors.lastname: Dunning
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
authors.forename: Julia A Newton
authors.initials: JAN
authors.lastname: Bishop
authors.affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM), UMR-946, Genetic Variation and Human Diseases Unit, Paris, France.|Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Demenais
authors.affiliation: Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Hanover, New Hampshire, USA.
authors.forename: Christopher I
authors.initials: CI
authors.lastname: Amos
authors.affiliation: Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
authors.forename: Stuart
authors.initials: S
authors.lastname: MacGregor
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
authors.forename: Mark M
authors.initials: MM
authors.lastname: Iles
mesh_terms: D016022:Case-Control Studies; D002877:Chromosomes, Human / Q000235:genetics; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012878:Skin Neoplasms / Q000235:genetics*; D000096142:Cutaneous Malignant Melanoma