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

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

Author Puig, Susana Google Scholar
Potrony, Miriam Google Scholar
Cuellar, Francisco Google Scholar
Puig-Butille, Joan Anton Google Scholar
Carrera, Cristina Google Scholar
Aguilera, Paula Google Scholar
Nagore, Eduardo Google Scholar
Garcia-Casado, Zaida Google Scholar
Requena, Celia Google Scholar
Kumar, Rajiv Google Scholar
Landman, Gilles Autor UNIFESP Google Scholar
Soares de Sa, Bianca Costa Google Scholar
Rezze, Gisele Gargantini Google Scholar
Facure, Luciana Google Scholar
Ribeiro de Avila, Alexandre Leon Google Scholar
Achatz, Maria Isabel Google Scholar
Carraro, Dirce Maria Google Scholar
Duprat Neto, Joao Pedreira Google Scholar
Grazziotin, Thais C. Google Scholar
Bonamigo, Renan R. Google Scholar
Rey, Maria Carolina W. Google Scholar
Balestrini, Claudia Google Scholar
Morales, Enrique Google Scholar
Molgo, Montserrat Google Scholar
Bakos, Renato Marchiori Google Scholar
Ashton-Prolla, Patricia Google Scholar
Giugliani, Roberto Google Scholar
Borges, Alejandra Larre Google Scholar
Barquet, Virginia Google Scholar
Perez, Javiera Google Scholar
Martinez, Miguel Google Scholar
Cabo, Horacio Google Scholar
Sabban, Emilia Cohen Google Scholar
Latorre, Clara Google Scholar
Carlos-Ortega, Blanca Google Scholar
Salas-Alanis, Julio C. Google Scholar
Gonzalez, Roger Google Scholar
Olazaran, Zulema Google Scholar
Malvehy, Josep Google Scholar
Badenas, Celia Google Scholar
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.
Keywords CDKN2A
familial
Latin America
melanoma
MC1R
xmlui.dri2xhtml.METS-1.0.item-coverage New York
Language English
Sponsor GenoMEL
National Cancer Institute of the US National Institutes of Health
Fondo de Investigaciones Sanitarias, Spain
CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain
Catalan Government, Spain
European Commission
Instituto de Salud Carlos III, Spain
Consejo Nacional de Ciencia y Tecnologia (CONACYT), Mexico
Fundacao para o Amparo da Pesquisa do Estado de Sao Paulo (FAPESP), Sao Paulo, Brazil
Brazilian Post-Graduation Agency Capes (Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior)
Comision Honoraria de Lucha Contra el Cancer and Fundacion Manuel Perez, Montevideo, Uruguay
Grant number GenoMEL: LSHC-CT-2006-018702
National Cancer Institute of the US National Institutes of Health: CA83115
Fondo de Investigaciones Sanitarias, Spain: 03/0019
Fondo de Investigaciones Sanitarias, Spain: 05/0302
Fondo de Investigaciones Sanitarias, Spain: 06/0265
Fondo de Investigaciones Sanitarias, Spain: 09/1393
Fondo de Investigaciones Sanitarias, Spain: 12/00840
Catalan Government, Spain: AGAUR 2014_SGR_603
Consejo Nacional de Ciencia y Tecnologia (CONACYT), Mexico: 152256/158706
FAPESP: 2007/04313-2
Date 2016
Published in Genetics In Medicine. New York, v. 18, n. 7, p. 727-736, 2016.
ISSN 1098-3600 (Sherpa/Romeo, impact factor)
Publisher Nature Publishing Group
Extent 727-736
Origin http://dx.doi.org/10.1038/gim.2015.160
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000381136700012
URI https://repositorio.unifesp.br/handle/11600/57633

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