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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, 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
Amèrica Llatina
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.
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It is part of: Genetics in Medicine, 2016, vol. 18, num. 7, p. 727-736
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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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