Details

Autor(en) / Beteiligte

• MacGregor, Stuart
• Machiela, Mitchell J
• Ghiorzo, Paola
• Calista, Donato
• Choi, Jiyeon
• Zhang, Tongwu
• Rodolfo, Monica
• Trower, Adam J
• Song, Lei
• Stefanaki, Irene
• Yang, Rose
• Potrony, Miriam
• Pellegrini, Cristina
• Cattaneo, Laura
• Zawistowski, Matthew
• Gimenez-Xavier, Pol
• 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
• Azizi, Esther
• Soyer, H Peter
• Dalmasso, Bruna
• Burdon, Kathryn P
• Chen, Wei V
• Codd, Veryan
• Craig, Jamie E
• Dębniak, Tadeusz
• Falchi, Mario
• Galan, Pilar
• Garcia-Casado, Zaida
• Gillanders, Elizabeth M
• Gordon, Scott
• Gruis, Nelleke A
• Hansson, Johan
• Helsing, Per
• Henders, Anjali
• Hočevar, Marko
• Höiom, Veronica
• Hunter, David
• Ingvar, Christian
• Kumar, Rajiv
• Lathrop, G Mark
• Li, Xin
• Lubiński, Jan
• Mackie, Rona M
• Malt, Maryrose
• Mohamdi, Hamida
• Molven, Anders
• Neale, Rachel E
• Novaković, Srdjan
• Olsson, Håkan
• Orr, Nicholas
• Fritsche, Lars G
• Puig-Butille, Joan Anton
• Radford-Smith, Graham L
• Randerson-Moor, Juliette
• Requena, Celia
• Samani, Nilesh J
• Schadendorf, Dirk
• Schulze, Hans-Joachim
• Smithers, Mark
• Song, Fengju
• Swerdlow, Anthony J
• Visconti, Alessia
• Wallace, Leanne
• Ward, Sarah V
• Wheeler, Lawrie
• Sturm, Richard A
• Hutchinson, Amy
• Malasky, Michael
• Zhou, Weiyin
• Pooley, Karen A
• Elder, David E
• Han, Jiali
• Hicks, Belynda
• Kanetsky, Peter A
• Olsen, Catherine M
• Hayward, Caroline
• Dunning, Alison M
• Martin, Nicholas G
• Evangelou, Evangelos
• Mann, Graham J
• Long, Georgina
• Pharoah, Paul D P
• Barrett, Jennifer H
• Cust, Anne E
• Whiteman, David C
• Newton-Bishop, Julia A
• Chanock, Stephen J
• Demenais, Florence
• Puig, Susana
• Law, Matthew H

Titel

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Ist Teil von

• Nature genetics, 2020-05, Vol.52 (5), p.494-504

Ort / Verlag

United States: Nature Publishing Group

Erscheinungsjahr

2020

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 ) 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.