Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

• Published in: Genetics in medicine Vol. 18; no. 7; pp. 727 - 736
• Main Authors: Puig, Susana, Potrony, Miriam, Cuellar, Francisco, Puig-Butille, Joan Anton, Carrera, Cristina, Aguilera, Paula, Nagore, Eduardo, Garcia-Casado, Zaida, Requena, Celia, Kumar, Rajiv, Landman, Gilles, Costa Soares de Sá, Bianca, Gargantini Rezze, Gisele, Facure, Luciana, de Avila, Alexandre Leon Ribeiro, Achatz, Maria Isabel, Carraro, Dirce Maria, Duprat Neto, João Pedreira, 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, Carlos-Ortega, Blanca, Salas-Alanis, Julio C, Gonzalez, Roger, Olazaran, Zulema, Malvehy, Josep, Badenas, Celia
• Format: Journal Article
• Language: English
• Published: New York Elsevier Inc 01.07.2016; Nature Publishing Group US; Elsevier Limited; Nature Publishing Group
• Subjects: 631/208/68; 692/699/67/1813/1634; 692/700/228/2050/1510; 692/700/478/174; Adult; Aged; Biomedicine; CDKN2A; Cyclin-Dependent Kinase Inhibitor p16; Cyclin-Dependent Kinase Inhibitor p18 - genetics; familial; Female; Genetic Counseling; Genetic Predisposition to Disease; Germ-Line Mutation; Human Genetics; Humans; Laboratory Medicine; Latin America; Male; MC1R; melanoma; Melanoma - diagnosis; Melanoma - epidemiology; Melanoma - genetics; Melanoma - pathology; Middle Aged; Original; original-research-article; Receptor, Melanocortin, Type 1 - genetics; Risk Factors; Spain; Spain; familial; melanoma; MC1R; CDKN2A; Latin America
• ISSN: 1098-3600; 1530-0366
• DOI: 10.1038/gim.2015.160

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. 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. 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. 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.