Characterization of individuals at high risk of developing melanoma in Latin America : bases for genetic counseling in melanoma
Puig, Susana (Universitat de Barcelona. Departament de Medicina)
Potrony, Miriam (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
Cuellar, Francisco (Consejo Nacional de Ciencia y Tecnología (CONACYT))
Puig-Butille, Joan Anton (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
Carrera, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Aguilera, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Nagore, Eduardo (Universidad Católica de Valencia)
Garcia-Casado, Zaida (Instituto Valenciano Oncologia)
Requena, Celia (Fundació Institut Valencià d'Oncologia)
Kumar, Rajiv (Division of Molecular Genetic Epidemiology, German Cancer Research Center)
Landman, Gilles (International Research Center, AC Camargo Cancer Center)
Costa Soares de Sá, Bianca (International Research Center, AC Camargo Cancer Center)
Gargantini Rezze, Gisele (International Research Center, AC Camargo Cancer Center)
Facure, Luciana (International Research Center, AC Camargo Cancer Center)
de Avila, Alexandre Leon Ribeiro (International Research Center, AC Camargo Cancer Center)
Achatz, Maria Isabel (International Research Center, AC Camargo Cancer Center)
Carraro, Dirce Maria (International Research Center, AC Camargo Cancer Center)
Duprat Neto, João Pedreira (International Research Center, AC Camargo Cancer Center)
Grazziotin, Thais C. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA))
Bonamigo, Renan R. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA))
Rey, Maria Carolina W. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA))
Balestrini, Claudia (Servicio de Dermatología, Hospital Dr. Sótero del Río)
Morales, Enrique (Servicio de Dermatología, Hospital San Juan de Dios)
Molgo, Montserrat (Pontificia Universidad Católica de Chile)
Bakos, Renato Marchiori (Hospital de Clínicas de Porto Alegre (Brasil))
Ashton-Prolla, Patricia (Hospital de Clínicas de Porto Alegre (Brasil))
Giugliani, Roberto (Hospital de Clínicas de Porto Alegre (Brasil))
Larre Borges, Alejandra (Universidad de la República (Montevideo, Uruguai))
Barquet, Virginia (Universidad de la República (Montevideo, Uruguai))
Pérez, Javiera (Universidad de la República (Montevideo, Uruguai))
Martínez, Miguel (Universidad de la República (Montevideo, Uruguai))
Cabo, Horacio (Consultorio Dermatológico Drs. Cohen Sabban y Cabo)
Cohen Sabban, Emilia (Consultorio Dermatológico Drs. Cohen Sabban y Cabo)
Latorre, Clara (Consultorio Dermatológico Drs. Cohen Sabban y Cabo)
Carlos-Ortega, Blanca (Hospital Especialidades Centro Medico Nacional La Raza)
Salas-Alanis, Julio C.. (Departamento de Ciencias Básicas, Escuela de Medicina Universidad de Monterrey)
Gonzalez, Roger (Hospital Universitario. Dr. José Eleuterio González (Monterrey, Mèxic))
Olazaran, Zulema (Hospital Universitario. Dr. José Eleuterio González (Monterrey, Mèxic))
Malvehy, Josep (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Badenas, Celia (Institut d'Investigacions Biomèdiques August Pi i Sunyer)

Data:	2015
Resum:	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. Genet Med 18 7, 727-736. 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. Genet Med 18 7, 727-736. 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. Genet Med 18 7, 727-736. 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.
Ajuts:	Agència de Gestió d'Ajuts Universitaris i de Recerca 2014_SGR_603 Instituto de Salud Carlos III 152256-158706
Nota:	Altres ajuts: GenoMEL/t LSHC-CT-2006-018702
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra, i la creació d'obres derivades, sempre que no sigui amb finalitats comercials i que es distribueixin sota la mateixa llicència que regula l'obra original. Cal que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	CDKN2A ; Familial ; Latin America ; Melanoma ; MC1R
Publicat a:	Genetics in medicine, Vol. 18 (december 2015) , p. 727-736, ISSN 1530-0366

DOI: 10.1038/gim.2015.160
PMID: 26681309

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