Suchergebnisse

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. ; 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 ; Hosp Clin & IDIBAPS, Dept Dermatol, Melanoma Unit, Inst Invest Biomed August Pi I Sunyer, Barcelona, Spain ; Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain ; Univ Barcelona, Dept Med, Barcelona, Spain ; Consejo Nacl Ciencia & Tecnol CONACYT, Mexico City, DF, Mexico ; Hosp Clin & IDIBAPS, Inst Invest Biomed August Pi I Sunyer, Biochem & Mol Genet Dept, Melanoma Unit, Barcelona, Spain ; Inst Valenciano Oncol, Dept Dermatol, Valencia, Spain ; Univ Cattolica Valencia, Valencia, Spain ; Inst Valenciano Oncol, Mol Biol Unit, Valencia, Spain ; German Canc Res Ctr, Div Mol Genet Epidemiol, Heidelberg, Germany ; Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil ; AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo, Brazil ; Univ Fed Ciencias Saude Porto Alegre, Dept Dermatol, Porto Alegre, RS, Brazil ; Univ Fed Ciencias Saude Porto Alegre, Postgrad Program Pathol, Porto Alegre, RS, Brazil ; Hosp Dr Sotero del Rio, Serv Dermatol, Santiago, Chile ; Hosp San Juan Dios, Serv Dermatol, Santiago, Chile ; Pontificia Univ Catolica Chile, Santiago, Chile ; Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Dept Dermatol, Porto Alegre, RS, Brazil ; Univ Republica, Hosp Clin, Unidad Les Pigmentadas, Catedra Dermatol, Montevideo, Uruguay ; Univ Buenos Aires, Inst Invest Med A Lanari, Buenos Aires, DF, Argentina ; Consultorio Dermatol Drs Cohen Sabban & Cabo, Buenos Aires, DF, Argentina ; Hosp Especialidades Ctr Med Nacl La Raza, Mexico City, DF, Mexico ; Univ Monterrey, Escuela Med, Dept Ciencias Basicas, Monterrey, Mexico ; Univ Autonoma Nuevo Leon, Fac Med, Dept Introducc Clin, Monterrey, Mexico ; Hosp Univ Dr Jose Eleuterio Gonzalez, Serv Dermatol, Monterrey, Mexico ; Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil ; 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 ; Web of Science