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Title: | Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma |
Author: | Puig i Sardà, Susana Potrony Mateu, Míriam Cuellar, Francisco Puig Butillé, Joan Anton Carrera Álvarez, Cristina Aguilera, Paula Nagore, Eduardo Garcia-Casado, Zaida Requena, Celia Kumar, Rajiv Landman, Gilles Costa Soares de Sá, Bianca Gargantini Rezze, Gisele Facure Moredo, Luciana de Avila, Alexandre Leon Achatz, Maria Isabel Carraro, Dirce Maria Duprat Neto, Joao Pedreira Grazziotin, Thais Corsetti Bonamigo, Renan Rangel Rey, Maria Carolina Balestrini, Claudia Morales, Enrique Molgo, Montserrat Bakos, Renato Marchiori Ashton-Prolla, Patricio Giugliani, Roberto Larre Borges, Alejandra Barquet, Virginia Pérez-Anker, Javiera Martínez, Miguel Cabo, Horacio Cohen Sabban, Emilia Latorre, Clara Carlos Ortega, Blanca Salas-Alanis, Julio C. Gonzalez, Roger Olazaran, Zulema Malvehy, J. (Josep) Badenas Orquin, Celia |
Keywords: | Genètica Melanoma Amèrica Llatina Genetics Melanoma Latin America |
Issue Date: | Jul-2016 |
Publisher: | American College of Medical Genetics and Genomics |
Abstract: | 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. |
Note: | Reprodució del document publicat a: https://doi.org/10.1038/gim.2015.160 |
It is part of: | Genetics in Medicine, 2016, vol. 18, num. 7, p. 727-736 |
URI: | http://hdl.handle.net/2445/160523 |
Related resource: | https://doi.org/10.1038/gim.2015.160 |
ISSN: | 1098-3600 |
Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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