2026-04-13T00:33:09Zhttps://recercat.cat/oai/request
oai:recercat.cat:2445/1605232025-12-04T19:13:02Zcom_2072_1057col_2072_478858col_2072_478917col_2072_478921
RECERCAT author Puig i Sardà, Susana author Potrony Mateu, Míriam author Cuellar, Francisco author Puig Butillé, Joan Anton author Carrera Álvarez, Cristina author Aguilera, Paula author Nagore, Eduardo author Garcia-Casado, Zaida author Requena, Celia author Kumar, Rajiv author Landman, Gilles author Costa Soares de Sá, Bianca author Gargantini Rezze, Gisele author Facure Moredo, Luciana author de Avila, Alexandre Leon author Achatz, Maria Isabel author Carraro, Dirce Maria author Duprat Neto, Joao Pedreira author Grazziotin, Thais Corsetti author Bonamigo, Renan Rangel author Rey, Maria Carolina author Balestrini, Claudia author Morales, Enrique author Molgo, Montserrat author Bakos, Renato Marchiori author Ashton-Prolla, Patricio author Giugliani, Roberto author Larre Borges, Alejandra author Barquet, Virginia author Pérez-Anker, Javiera author Martínez, Miguel author Cabo, Horacio author Cohen Sabban, Emilia author Latorre, Clara author Carlos Ortega, Blanca author Salas-Alanis, Julio C. author Gonzalez, Roger author Olazaran, Zulema author Malvehy, J. (Josep) author Badenas Orquin, Celia 2020-05-15T11:34:48Z2020-05-15T11:34:48Z2016-072020-05-15T11:34:48Z PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. cc by-nc-sa (c) Puig i Sardà, Susana et al., 2016 http://creativecommons.org/licenses/by-nc-sa/3.0/es/ info:eu-repo/semantics/openAccess Genètica Melanoma Amèrica Llatina Genetics Melanoma Latin America Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion