dc.contributor.author | Barrett, Jennifer H. | en_US |
dc.contributor.author | Taylor, John C. | en_US |
dc.contributor.author | Bright, C | en_US |
dc.contributor.author | Harland, Mark | en_US |
dc.contributor.author | Dunning, Alison M | en_US |
dc.contributor.author | Akslen, Lars A. | en_US |
dc.contributor.author | Andresen, Per Arne | en_US |
dc.contributor.author | Avril, Marie-Francoise | en_US |
dc.contributor.author | Azizi, Esther | en_US |
dc.contributor.author | Scarra, Giovanna Bianchi | en_US |
dc.contributor.author | Brossard, Myriam | en_US |
dc.contributor.author | Brown, Kevin M. | en_US |
dc.contributor.author | Debniak, Tadeusz | en_US |
dc.contributor.author | Elder, David E. | en_US |
dc.contributor.author | Friedman, Eitan | en_US |
dc.contributor.author | Ghiorzo, Paola | en_US |
dc.contributor.author | Gillanders, Elizabeth M. | en_US |
dc.contributor.author | Gruis, Nelleke A. | en_US |
dc.contributor.author | Hansson, Johan | en_US |
dc.contributor.author | Helsing, Per | en_US |
dc.contributor.author | Hočevar, Marko | en_US |
dc.contributor.author | Höiom, Veronica | en_US |
dc.contributor.author | Ingvar, Christian | en_US |
dc.contributor.author | Landi, Maria Teresa | en_US |
dc.contributor.author | Lang, Julie L. | en_US |
dc.contributor.author | Lathrop, G. Mark | en_US |
dc.contributor.author | Lubinski, Jan | en_US |
dc.contributor.author | Mackie, Rona M. | en_US |
dc.contributor.author | Molven, Anders | en_US |
dc.contributor.author | Novakovic, Srdjan | en_US |
dc.contributor.author | Olsson, Håkan | en_US |
dc.contributor.author | Puig, Susana | en_US |
dc.contributor.author | Puig-Butille, Joan Anton | en_US |
dc.contributor.author | van der Stoep, Nienke | en_US |
dc.contributor.author | van Doorn, Remco | en_US |
dc.contributor.author | van Workum, Wilberg | en_US |
dc.contributor.author | Goldstein, Alisa M. | en_US |
dc.contributor.author | Kanetsky, Peter A. | en_US |
dc.contributor.author | Pharoah, Paul D.P. | en_US |
dc.contributor.author | Demenais, Florence | en_US |
dc.contributor.author | Hayward, Nicholas K. | en_US |
dc.contributor.author | Bishop, Julia A. Newton | en_US |
dc.contributor.author | Bishop, D. Timothy | en_US |
dc.contributor.author | Iles, Mark M. | en_US |
dc.date.accessioned | 2016-03-31T11:34:16Z | |
dc.date.available | 2016-03-31T11:34:16Z | |
dc.date.issued | 2015-08-14 | |
dc.Published | International Journal of Cancer 2015, 136(6):1351-1360 | eng |
dc.identifier.issn | 1097-0215 | |
dc.identifier.uri | https://hdl.handle.net/1956/11793 | |
dc.description.abstract | At least 17 genomic regions are established as harboring melanoma susceptibility variants, in most instances with genome-wide levels of significance and replication in independent samples. Based on genome-wide single nucleotide polymorphism (SNP) data augmented by imputation to the 1,000 Genomes reference panel, we have fine mapped these regions in over 5,000 individuals with melanoma (mainly from the GenoMEL consortium) and over 7,000 ethnically matched controls. A penalized regression approach was used to discover those SNP markers that most parsimoniously explain the observed association in each genomic region. For the majority of the regions, the signal is best explained by a single SNP, which sometimes, as in the tyrosinase region, is a known functional variant. However in five regions the explanation is more complex. At the CDKN2A locus, for example, there is strong evidence that not only multiple SNPs but also multiple genes are involved. Our results illustrate the variability in the biology underlying genome-wide susceptibility loci and make steps toward accounting for some of the “missing heritability.” | en_US |
dc.language.iso | eng | eng |
dc.publisher | Wiley Periodicals, Inc. on behalf of UICC | eng |
dc.rights | Attribution CC BY 3.0 | eng |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0 | eng |
dc.subject | melanoma | eng |
dc.subject | fine mapping | eng |
dc.subject | penalized regression | eng |
dc.subject | heritability | eng |
dc.subject | genome-wide signal | eng |
dc.title | Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions | en_US |
dc.type | Peer reviewed | |
dc.type | Journal article | |
dc.date.updated | 2015-12-29T13:57:54Z | |
dc.description.version | publishedVersion | en_US |
dc.rights.holder | Copyright 2014 The Authors | |
dc.identifier.doi | https://doi.org/10.1002/ijc.29099 | |
dc.identifier.cristin | 1159411 | |
dc.relation.project | Norges forskningsråd: 223250 | |
dc.relation.project | Norges forskningsråd: 191778 | |
dc.relation.project | Norges forskningsråd: 246401 | |
dc.subject.nsi | VDP::Medisinske fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714 | |
dc.subject.nsi | VDP::Midical sciences: 700::Basic medical, dental and veterinary sciences: 710::Medical genetics: 714 | |
dc.subject.nsi | VDP::Medisinske fag: 700::Klinisk medisinske fag: 750::Onkologi: 762 | |
dc.subject.nsi | VDP::Midical sciences: 700::Clinical medical sciences: 750::Oncology: 762 | |
dc.subject.nsi | VDP::Medisinske Fag: 700 | en_US |