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

Landi, MT, Bishop, DT, MacGregor, S, Machiela, MJ, Stratigos, AJ, Ghiorzo, P, Brossard, M, Calista, D, Choi, J, Fargnoli, MC, Zhang, T, Rodolfo, M, Trower, AJ, Menin, C, Martinez, J, Hadjisavvas, A, Song, L, Stefanaki, I, Scolyer, R, Yang, R, Goldstein, AM, Potrony, M, Kypreou, KP, Pastorino, L, Queirolo, P, Pellegrini, C, Cattaneo, L, Zawistowski, M, Gimenez-Xavier, P, Rodriguez, A, Elefanti, L, Manoukian, S, Rivoltini, L, Smith, BH, Loizidou, MA, Del Regno, L, Massi, D, Mandala, M, Khosrotehrani, K, Akslen, LA, Amos, CI, Andresen, PA, Avril, MF, Azizi, E, Soyer, HP, Bataille, V, Dalmasso, B, Bowdler, LM, Burdon, KP ORCID: 0000-0001-8217-1249, Chen, WV, Codd, V, Craig, JE, Debniak, T, Falchi, M, Fang, S, Friedman, E, Simi, S, Galan, P, Garcia-Casado, Z, Gillanders, EM, Gordon, S, Green, A, Gruis, NA, Hansson, J, Harland, M, Harris, J, Helsing, P, Henders, A, Hocevar, M, Hoiom, V, Hunter, D, Ingvar, C, Kumar, R, Lang, J, Lathrop, GM, Lee, JE, Li, X, Lubinski, J, Mackie, RM, Malt, M, Malvehy, J, McAloney, K, Mohamdi, H, Molven, A, Moses, EK, Neale, RE, Novakovic, S, Nyholt, DR, Olsson, H, Orr, N, Fritsche, LG, Puig-Butille, JA, Qureshi, AA, Radford-Smith, GL, Randerson-Moor, J, Requena, C, Rowe, C, Samani, NJ, Sanna, M and Schadendorf, D 2020 , 'Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility' , Nature Genetics, vol. 52, no. 5 , pp. 494-504 , doi: 10.1038/s41588-020-0611-8.

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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 -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.

Item Type: Article
Authors/Creators:Landi, MT and Bishop, DT and MacGregor, S and Machiela, MJ and Stratigos, AJ and Ghiorzo, P and Brossard, M and Calista, D and Choi, J and Fargnoli, MC and Zhang, T and Rodolfo, M and Trower, AJ and Menin, C and Martinez, J and Hadjisavvas, A and Song, L and Stefanaki, I and Scolyer, R and Yang, R and Goldstein, AM and Potrony, M and Kypreou, KP 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, BH and Loizidou, MA and Del Regno, L and Massi, D and Mandala, M and Khosrotehrani, K and Akslen, LA and Amos, CI and Andresen, PA and Avril, MF and Azizi, E and Soyer, HP and Bataille, V and Dalmasso, B and Bowdler, LM and Burdon, KP and Chen, WV and Codd, V and Craig, JE and Debniak, T and Falchi, M and Fang, S and Friedman, E and Simi, S and Galan, P and Garcia-Casado, Z and Gillanders, EM and Gordon, S and Green, A and Gruis, NA and Hansson, J and Harland, M and Harris, J and Helsing, P and Henders, A and Hocevar, M and Hoiom, V and Hunter, D and Ingvar, C and Kumar, R and Lang, J and Lathrop, GM and Lee, JE and Li, X and Lubinski, J and Mackie, RM and Malt, M and Malvehy, J and McAloney, K and Mohamdi, H and Molven, A and Moses, EK and Neale, RE and Novakovic, S and Nyholt, DR and Olsson, H and Orr, N and Fritsche, LG and Puig-Butille, JA and Qureshi, AA and Radford-Smith, GL and Randerson-Moor, J and Requena, C and Rowe, C and Samani, NJ and Sanna, M and Schadendorf, D
Keywords: genetics, melanoma
Journal or Publication Title: Nature Genetics
Publisher: Nature Pub. Co.
ISSN: 1061-4036
DOI / ID Number: 10.1038/s41588-020-0611-8
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