Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Summary, in English

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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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.

• Author: Matthew H Law; D Timothy Bishop; Jeffrey E Lee; Myriam Brossard; Nicholas G Martin; Eric K Moses; Fengju Song; Jennifer H Barrett; Rajiv Kumar; Douglas F Easton; Paul D P Pharoah; Anthony J Swerdlow; Katerina P Kypreou; John C Taylor; Mark Harland; Juliette Randerson-Moor; Lars A Akslen; Per A Andresen; Marie-Françoise Avril; Esther Azizi; Giovanna Bianchi Scarrà; Kevin M Brown; Tadeusz Dȩbniak; David L Duffy; David E Elder; Shenying Fang; Eitan Friedman; Pilar Galan; Paola Ghiorzo; Elizabeth M Gillanders; Alisa M Goldstein; Nelleke A Gruis; Johan Hansson; Per Helsing; Marko Hočevar; Veronica Höiom; Christian Ingvar; Peter A Kanetsky; Wei V Chen; Maria Teresa Landi; Julie Lang; G Mark Lathrop; Jan Lubiński; Rona M Mackie; Graham J Mann; Anders Molven; Grant W Montgomery; Srdjan Novaković; Håkan Olsson; Susana Puig; Joan Anton Puig-Butille; Abrar A Qureshi; Graham L Radford-Smith; Nienke van der Stoep; Remco van Doorn; David C Whiteman; Jamie E Craig; Dirk Schadendorf; Lisa A Simms; Kathryn P Burdon; Dale R Nyholt; Karen A Pooley; Nick Orr; Alexander J Stratigos; Anne E Cust; Sarah V Ward; Nicholas K Hayward; Jiali Han; Hans-Joachim Schulze; Alison M Dunning; Julia A Newton Bishop; Florence Demenais; Christopher I Amos; Stuart MacGregor; Mark M Iles
• Department/s: Surgery (Lund); Tumor microenvironment; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation; EpiHealth: Epidemiology for Health
• Publishing year: 2015
• Language: English
• Pages: 987-995
• Publication/Series: Nature Genetics
• Volume: 47
• Issue: 9
• Links: http://www.ncbi.nlm.nih.gov/pubmed/26237428?dopt=Abstract; http://dx.doi.org/10.1038/ng.3373
• Document type: Journal article
• Publisher: Nature Publishing Group
• Topic: Cancer and Oncology
• Status: Published
• ISBN/ISSN/Other: ISSN: 1546-1718