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

Susana Puig, Miriam Potrony, Francisco Cuellar, Joan Anton Puig-Butille, Cristina Carrera, Paula Aguilera, Eduardo Nagore, Zaida Garcia-Casado, Celia Requena, Rajiv Kumar, Gilles Landman, Bianca Costa Soares De Sá, Gisele Gargantini Rezze, Luciana Facure, Alexandre Leon Ribeiro De Avila, Maria Isabel Achatz, Dirce Maria Carraro, João Pedreira Duprat Neto, Thais C. Grazziotin, Renan R. BonamigoMaria Carolina W. Rey, Claudia Balestrini, Enrique Morales, Montserrat Molgo, Renato Marchiori Bakos, Patricia Ashton-Prolla, Roberto Giugliani, Alejandra Larre Borges, Virginia Barquet, Javiera Pérez, Miguel Martínez, Horacio Cabo, Emilia Cohen Sabban, Clara Latorre, Blanca Carlos-Ortega, Julio C. Salas-Alanis, Roger Gonzalez, Zulema Olazaran, Josep Malvehy, Celia Badenas

Research output: Contribution to journalArticlepeer-review

30 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)727-736
Number of pages10
JournalGenetics in Medicine
Issue number7
Publication statusPublished - 1 Jul 2016

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


Dive into the research topics of 'Characterization of individuals at high risk of developing melanoma in Latin America: Bases for genetic counseling in melanoma'. Together they form a unique fingerprint.

Cite this