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

Autor: Puig S; Melanoma Unit, Dermatology Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.; Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Departament de Medicina, Universitat de Barcelona, Barcelona, Spain., Potrony M; Melanoma Unit, Dermatology Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain., Cuellar F; Melanoma Unit, Dermatology Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.; Consejo Nacional de Ciencia y Tecnología (CONACYT), Ciudad de México, México., Puig-Butille JA; Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Melanoma Unit, Biochemistry and Molecular Genetics Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain., Carrera C; Melanoma Unit, Dermatology Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.; Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain., Aguilera P; Melanoma Unit, Dermatology Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.; Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain., Nagore E; Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.; Universidad Católica de Valencia, Valencia, Spain., Garcia-Casado Z; Molecular Biology Unit, Instituto Valenciano de Oncologia, Valencia, Spain., Requena C; Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain., Kumar R; Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany., Landman G; Escola Paulista de Medicina - UNIFESP, São Paulo, Brazil.; International Research Center, AC Camargo Cancer Center, São Paulo, Brazil., Costa Soares de Sá B; International Research Center, AC Camargo Cancer Center, São Paulo, Brazil., Gargantini Rezze G; International Research Center, AC Camargo Cancer Center, São Paulo, Brazil., Facure L; International Research Center, AC Camargo Cancer Center, São Paulo, Brazil., de Avila AL; International Research Center, AC Camargo Cancer Center, São Paulo, Brazil., Achatz MI; International Research Center, AC Camargo Cancer Center, São Paulo, Brazil., Carraro DM; International Research Center, AC Camargo Cancer Center, São Paulo, Brazil., Duprat Neto JP; International Research Center, AC Camargo Cancer Center, São Paulo, Brazil., Grazziotin TC; Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil., Bonamigo RR; Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil., Rey MC; Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil., Balestrini C; Servicio de Dermatología, Hospital Dr. Sótero del Río, Santiago de Chile, Chile., Morales E; Servicio de Dermatología, Hospital San Juan de Dios, Santiago, Chile., Molgo M; Pontificia Universidad Católica de Chile, Santiago de Chile, Chile., Bakos RM; Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Ashton-Prolla P; Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Giugliani R; Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Larre Borges A; Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay., Barquet V; Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay., Pérez J; Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay., Martínez M; Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay., Cabo H; Instituto de Investigaciones Medicas 'A Lanari,' Universidad de Buenos Aires, Buenos Aires, Argentina.; Consultorio Dermatológico Drs. Cohen Sabban y Cabo, Buenos Aires, Argentina., Cohen Sabban E; Instituto de Investigaciones Medicas 'A Lanari,' Universidad de Buenos Aires, Buenos Aires, Argentina.; Consultorio Dermatológico Drs. Cohen Sabban y Cabo, Buenos Aires, Argentina., Latorre C; Consultorio Dermatológico Drs. Cohen Sabban y Cabo, Buenos Aires, Argentina., Carlos-Ortega B; Hospital Especialidades Centro Medico Nacional La Raza, Mexico, DF, Mexico., Salas-Alanis JC; Departamento de Ciencias Básicas, Escuela de Medicina Universidad de Monterrey, Monterrey, Mexico., Gonzalez R; Departamento de Introducción a la Clínica, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico.; Servicio de Dermatología, Hospital Universitario 'Dr. José Eleuterio González,' Monterrey, Mexico., Olazaran Z; Servicio de Dermatología, Hospital Universitario 'Dr. José Eleuterio González,' Monterrey, Mexico., Malvehy J; Melanoma Unit, Dermatology Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.; Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain., Badenas C; Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Melanoma Unit, Biochemistry and Molecular Genetics Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Jul; Vol. 18 (7), pp. 727-36. Date of Electronic Publication: 2015 Dec 17.
DOI: 10.1038/gim.2015.160
Abstrakt: 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.
Databáze: MEDLINE
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