@article{3077491,
    title = "Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility",
    author = "Landi, M.T. and Bishop, D.T. and MacGregor, S. and Machiela, M.J. and Stratigos, A.J. and Ghiorzo, P. and Brossard, M. and Calista, D. and Choi, J. and Fargnoli, M.C. and Zhang, T. and Rodolfo, M. and Trower, A.J. and Menin, C. and Martinez, J. and Hadjisavvas, A. and Song, L. and Stefanaki, I. and Scolyer, R. and Yang, R. and Goldstein, A.M. and Potrony, M. and Kypreou, K.P. and Pastorino, L. and Queirolo, P. and Pellegrini, C. and Cattaneo, L. and Zawistowski, M. and Gimenez-Xavier, P. and Rodriguez, A. and Elefanti, L. and Manoukian, S. and Rivoltini, L. and Smith, B.H. and Loizidou, M.A. and Del Regno, L. and Massi, D. and Mandala, M. and Khosrotehrani, K. and Akslen, L.A. and Amos, C.I. and Andresen, P.A. and Avril, M.-F. and Azizi, E. and Soyer, H.P. and Bataille, V. and Dalmasso, B. and Bowdler, L.M. and Burdon, K.P. and Chen, W.V. and Codd, V. and Craig, J.E. and Dębniak, T. and Falchi, M. and Fang, S. and Friedman, E. and Simi, S. and Galan, P. and Garcia-Casado, Z. and Gillanders, E.M. and Gordon, S. and Green, A. and Gruis, N.A. and Hansson, J. and Harland, M. and Harris, J. and Helsing, P. and Henders, A. and Hočevar, M. and Höiom, V. and Hunter, D. and Ingvar, C. and Kumar, R. and Lang, J. and Lathrop, G.M. and Lee, J.E. and Li, X. and Lubiński, J. and Mackie, R.M. and Malt, M. and Malvehy, J. and McAloney, K. and Mohamdi, H. and Molven, A. and Moses, E.K. and Neale, R.E. and Novaković, S. and Nyholt, D.R. and Olsson, H. and Orr, N. and Fritsche, L.G. and Puig-Butille, J.A. and Qureshi, A.A. and Radford-Smith, G.L. and Randerson-Moor, J. and Requena, C. and Rowe, C. and Samani, N.J. and Sanna, M. and Schadendorf, D. and Schulze, H.-J. and Simms, L.A. and Smithers, M. and Song, F. and Swerdlow, A.J. and van der Stoep, N. and Kukutsch, N.A. and Visconti, A. and Wallace, L. and Ward, S.V. and Wheeler, L. and Sturm, R.A. and Hutchinson, A. and Jones, K. and Malasky, M. and Vogt, A. and Zhou, W. and Pooley, K.A. and Elder, D.E. and Han, J. and Hicks, B. and Hayward, N.K. and Kanetsky, P.A. and Brummett, C. and Montgomery, G.W. and Olsen, C.M. and Hayward, C. and Dunning, A.M. and Martin, N.G. and Evangelou, E. and Mann, G.J. and Long, G. and Pharoah, P.D.P. and Easton, D.F. and Barrett, J.H. and Cust, A.E. and Abecasis, G. and Duffy, D.L. and Whiteman, D.C. and Gogas, H. and De Nicolo, A. and Tucker, M.A. and Newton-Bishop, J.A. and Peris, K. and Chanock, S.J. and Demenais, F. and Brown, K.M. and Puig, S. and Nagore, E. and Shi, J. and Iles, M.M. and Law, M.H. and GenoMEL Consortium and Q-MEGA and QTWIN Investigators and ATHENS Melanoma Study Group and 23andMe and The SDH Study Group and IBD Investigators and Essen-Heidelberg Investigators and AMFS Investigators and MelaNostrum Consortium",
    journal = "Nature Genetics",
    year = "2020",
    volume = "52",
    number = "5",
    pages = "494-504",
    publisher = "Lithuanian Nature Research Centre",
    issn = "1061-4036, 1546-1718",
    doi = "10.1038/s41588-020-0611-8",
    keywords = "adam15 protein;  alpha ketoglutarate dependent dioxygenase FTO;  dstyk protein;  dtnb protein;  foxd3 protein;  gba protein;  hdgfl1 protein;  histone deacetylase 4;  HLA antigen class 2;  HLA DQB2 antigen;  host factor;  interferon regulatory factor 4;  kiaa0930 protein;  kruppel like factor 4;  mfsd12 protein;  microphthalmia associated transcription factor;  Notch2 receptor;  peptides and proteins;  peroxisome proliferator activated receptor gamma coactivator 1beta;  plxnb2 protein;  pot1 protein;  protein p53;  rapgef5 protein;  retl1 protein;  terc protein;  transcription factor Sox6;  transcriptome;  tumor marker;  unclassified drug;  uvomorulin;  zbtb7b protein, acral lentiginous melanoma;  Article;  cancer genetics;  cancer risk;  cancer susceptibility;  case control study;  cohort analysis;  controlled study;  cutaneous melanoma;  female;  gene locus;  gene structure;  genetic association;  genetic risk;  genetic susceptibility;  genome-wide association study;  genotype;  hair color;  human;  major clinical study;  male;  malignant lentigo;  medical geography;  melanoma;  nevus;  phenotype;  priority journal;  risk assessment;  single nucleotide polymorphism;  skin pigmentation;  superficial spreading melanoma;  telomere homeostasis;  transcriptomics;  genetic predisposition;  genetics;  melanoma;  meta analysis;  pigmentation;  procedures;  single nucleotide polymorphism;  skin tumor, Female;  Genetic Loci;  Genetic Predisposition to Disease;  Genome-Wide Association Study;  Genotype;  Humans;  Male;  Melanoma;  Phenotype;  Pigmentation;  Polymorphism, Single Nucleotide;  Skin Neoplasms",
    abstract = "Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified 54 significant (P < 5 × 10−8) loci with 68 independent single nucleotide polymorphisms. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with GWAS of nevus count and hair color, and transcriptome association approaches, uncovered 31 potential secondary loci for a total of 85 cutaneous melanoma susceptibility loci. These findings provide insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation and telomere maintenance, together with identifying potential new pathways for cutaneous melanoma pathogenesis. © 2020, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply."
}