) 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.
| Authors | Landi, Maria Teresa; Bishop, D Timothy; MacGregor, Stuart; Machiela, Mitchell J; Stratigos, Alexander J; Ghiorzo, Paola; Brossard, Myriam; Calista, Donato; Choi, Jiyeon; Fargnoli, Maria Concetta; Zhang, Tongwu; Rodolfo, Monica; Trower, Adam J; Menin, Chiara; Martinez, Jacobo; Hadjisavvas, Andreas; Song, Lei; Stefanaki, Irene; Scolyer, Richard; Yang, Rose; Goldstein, Alisa M; Potrony, Miriam; Kypreou, Katerina P; Pastorino, Lorenza; Queirolo, Paola; Pellegrini, Cristina; Cattaneo, Laura; Zawistowski, Matthew; Gimenez-Xavier, Pol; Rodriguez, Arantxa; Elefanti, Lisa; Manoukian, Siranoush; Rivoltini, Licia; Smith, Blair H; Loizidou, Maria A; Del Regno, Laura; Massi, Daniela; Mandala, Mario; Khosrotehrani, Kiarash; Akslen, Lars A; Amos, Christopher I; Andresen, Per A; Avril, Marie-Françoise; Azizi, Esther; Soyer, H Peter; Bataille, Veronique; Dalmasso, Bruna; Bowdler, Lisa M; Burdon, Kathryn P; Chen, Wei V; Codd, Veryan; Craig, Jamie E; Debniak, Tadeusz; Falchi, Mario; Fang, Shenying; Friedman, Eitan; Simi, Sarah; Galan, Pilar; Garcia-Casado, Zaida; Gillanders, Elizabeth M; Gordon, Scott; Green, Adele; Gruis, Nelleke A; Hansson, Johan; Harland, Mark; Harris, Jessica; Helsing, Per; Henders, Anjali; Hocevar, Marko; Höiom, Veronica; Hunter, David; Ingvar, Christian; Kumar, Rajiv; Lang, Julie; Lathrop, G Mark; Lee, Jeffrey E; Li, Xin; Lubinski, Jan; Mackie, Rona M; Malt, Maryrose; Malvehy, Josep; McAloney, Kerrie; Mohamdi, Hamida; Molven, Anders; Moses, Eric K; Neale, Rachel E; Novakovic, Srdjan; Nyholt, Dale R; Olsson, Håkan; Orr, Nicholas; Fritsche, Lars G; Puig-Butille, Joan Anton; Qureshi, Abrar A; Radford-Smith, Graham L; Randerson-Moor, Juliette; Requena, Celia; Rowe, Casey; Samani, Nilesh J; Sanna, Marianna; Schadendorf, Dirk; Schulze, Hans-Joachim; Simms, Lisa A; Smithers, Mark; Song, Fengju; Swerdlow, Anthony J; van der Stoep, Nienke; Kukutsch, Nicole A; Visconti, Alessia; Wallace, Leanne; Ward, Sarah V; Wheeler, Lawrie; Sturm, Richard A; Hutchinson, Amy; Jones, Kristine; Malasky, Michael; Vogt, Aurelie; Zhou, Weiyin; Pooley, Karen A; Elder, David E; Han, Jiali; Hicks, Belynda; Hayward, Nicholas K; Kanetsky, Peter A; Brummett, Chad; Montgomery, Grant W; Olsen, Catherine M; Hayward, Caroline; Dunning, Alison M; Martin, Nicholas G; Evangelou, Evangelos; Mann, Graham J; Long, Georgina; Pharoah, Paul D P; Easton, Douglas F; Barrett, Jennifer H; Cust, Anne E; Abecasis, Goncalo; Duffy, David L; Whiteman, David C; Gogas, Helen; De Nicolo, Arcangela; Tucker, Margaret A; Newton-Bishop, Julia A; , ; , ; , ; , ; , ; , ; , ; , ; , ; Peris, Ketty; Chanock, Stephen J; Demenais, Florence; Brown, Kevin M; Puig, Susana; Nagore, Eduardo; Shi, Jianxin; Iles, Mark M; Law, Matthew H |
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| Journal | NATURE GENETICS |
| Pages | 494-504 |
| Volume | 52 |
| Date | 1/04/2020 |
| Grant ID | |
| Funding Body | Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH) |
| URL | http://www.ncbi.nlm.nih.gov/pubmed/?term=10.1038/s41588-020-0611-8 |
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