Characterization of individuals at high risk of developing melanoma in Latin America

CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to estab...

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Autores: Puig, Susana|||0000-0003-1337-9745, Potrony, Miriam|||0000-0003-2766-0765, Cuellar, Francisco, Puig-Butille, Joan Anton, Carrera, Cristina|||0000-0003-1608-8820, Aguilera, Paula|||0000-0002-1825-7707, Nagore, Eduardo|||0000-0003-3433-8707, Garcia-Casado, Zaida, Requena, Celia, Kumar, Rajiv|||0000-0002-6093-0395, Landman, Gilles, Costa Soares de Sá, Bianca, Gargantini Rezze, Gisele, Facure, Luciana|||0000-0003-3589-7041, de Avila, Alexandre Leon Ribeiro, Achatz, Maria Isabel, Carraro, Dirce Maria, Duprat Neto, João Pedreira|||0000-0001-8968-4506, Grazziotin, Thais C., Bonamigo, Renan R., Rey, Maria Carolina W., Balestrini, Claudia, Morales, Enrique, Molgo, Montserrat, Bakos, Renato Marchiori, Ashton-Prolla, Patricia, Giugliani, Roberto, Larre Borges, Alejandra, Barquet, Virginia, Pérez, Javiera, Martínez, Miguel, Cabo, Horacio, Cohen Sabban, Emilia, Latorre, Clara|||0000-0002-7111-4078, Carlos-Ortega, Blanca, Salas-Alanis, Julio C.., Gonzalez, Roger, Olazaran, Zulema, Malvehy, Josep|||0000-0002-6998-914X, Badenas, Celia|||0000-0002-0621-0477
Tipo de recurso: artículo
Fecha de publicación:2015
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:185487
Acceso en línea:https://ddd.uab.cat/record/185487
https://dx.doi.org/urn:doi:10.1038/gim.2015.160
Access Level:acceso abierto
Palabra clave:CDKN2A
Familial
Latin America
Melanoma
MC1R
Descripción
Sumario:CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. Genet Med 18 7, 727-736. CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. Genet Med 18 7, 727-736. Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. Genet Med 18 7, 727-736. The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives. Genet Med 18 7, 727-736.

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