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

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dc.contributor.author Puig, Susana
dc.contributor.author Potrony, Miriam
dc.contributor.author Cuellar, Francisco
dc.contributor.author Puig-Butille, Joan Anton
dc.contributor.author Carrera, Cristina
dc.contributor.author Aguilera, Paula
dc.contributor.author Nagore, Eduardo
dc.contributor.author Garcia-Casado, Zaida
dc.contributor.author Requena, Celia
dc.contributor.author Kumar, Rajiv
dc.contributor.author Landman, Gilles [UNIFESP]
dc.contributor.author Soares de Sa, Bianca Costa
dc.contributor.author Rezze, Gisele Gargantini
dc.contributor.author Facure, Luciana
dc.contributor.author Ribeiro de Avila, Alexandre Leon
dc.contributor.author Achatz, Maria Isabel
dc.contributor.author Carraro, Dirce Maria
dc.contributor.author Duprat Neto, Joao Pedreira
dc.contributor.author Grazziotin, Thais C.
dc.contributor.author Bonamigo, Renan R.
dc.contributor.author Rey, Maria Carolina W.
dc.contributor.author Balestrini, Claudia
dc.contributor.author Morales, Enrique
dc.contributor.author Molgo, Montserrat
dc.contributor.author Bakos, Renato Marchiori
dc.contributor.author Ashton-Prolla, Patricia
dc.contributor.author Giugliani, Roberto
dc.contributor.author Borges, Alejandra Larre
dc.contributor.author Barquet, Virginia
dc.contributor.author Perez, Javiera
dc.contributor.author Martinez, Miguel
dc.contributor.author Cabo, Horacio
dc.contributor.author Sabban, Emilia Cohen
dc.contributor.author Latorre, Clara
dc.contributor.author Carlos-Ortega, Blanca
dc.contributor.author Salas-Alanis, Julio C.
dc.contributor.author Gonzalez, Roger
dc.contributor.author Olazaran, Zulema
dc.contributor.author Malvehy, Josep
dc.contributor.author Badenas, Celia
dc.date.accessioned 2020-08-14T13:44:22Z
dc.date.available 2020-08-14T13:44:22Z
dc.date.issued 2016
dc.identifier http://dx.doi.org/10.1038/gim.2015.160
dc.identifier.citation Genetics In Medicine. New York, v. 18, n. 7, p. 727-736, 2016.
dc.identifier.issn 1098-3600
dc.identifier.uri https://repositorio.unifesp.br/handle/11600/57633
dc.description.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. en
dc.description.sponsorship GenoMEL
dc.description.sponsorship National Cancer Institute of the US National Institutes of Health
dc.description.sponsorship Fondo de Investigaciones Sanitarias, Spain
dc.description.sponsorship CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain
dc.description.sponsorship Catalan Government, Spain
dc.description.sponsorship European Commission
dc.description.sponsorship Instituto de Salud Carlos III, Spain
dc.description.sponsorship Consejo Nacional de Ciencia y Tecnologia (CONACYT), Mexico
dc.description.sponsorship Fundacao para o Amparo da Pesquisa do Estado de Sao Paulo (FAPESP), Sao Paulo, Brazil
dc.description.sponsorship Brazilian Post-Graduation Agency Capes (Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior)
dc.description.sponsorship Comision Honoraria de Lucha Contra el Cancer and Fundacion Manuel Perez, Montevideo, Uruguay
dc.format.extent 727-736
dc.language.iso eng
dc.publisher Nature Publishing Group
dc.relation.ispartof Genetics In Medicine
dc.rights Acesso aberto
dc.subject CDKN2A en
dc.subject familial en
dc.subject Latin America en
dc.subject melanoma en
dc.subject MC1R en
dc.title Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma en
dc.type Artigo
dc.description.affiliation Hosp Clin & IDIBAPS, Dept Dermatol, Melanoma Unit, Inst Invest Biomed August Pi I Sunyer, Barcelona, Spain
dc.description.affiliation Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain
dc.description.affiliation Univ Barcelona, Dept Med, Barcelona, Spain
dc.description.affiliation Consejo Nacl Ciencia & Tecnol CONACYT, Mexico City, DF, Mexico
dc.description.affiliation Hosp Clin & IDIBAPS, Inst Invest Biomed August Pi I Sunyer, Biochem & Mol Genet Dept, Melanoma Unit, Barcelona, Spain
dc.description.affiliation Inst Valenciano Oncol, Dept Dermatol, Valencia, Spain
dc.description.affiliation Univ Cattolica Valencia, Valencia, Spain
dc.description.affiliation Inst Valenciano Oncol, Mol Biol Unit, Valencia, Spain
dc.description.affiliation German Canc Res Ctr, Div Mol Genet Epidemiol, Heidelberg, Germany
dc.description.affiliation Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil
dc.description.affiliation AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo, Brazil
dc.description.affiliation Univ Fed Ciencias Saude Porto Alegre, Dept Dermatol, Porto Alegre, RS, Brazil
dc.description.affiliation Univ Fed Ciencias Saude Porto Alegre, Postgrad Program Pathol, Porto Alegre, RS, Brazil
dc.description.affiliation Hosp Dr Sotero del Rio, Serv Dermatol, Santiago, Chile
dc.description.affiliation Hosp San Juan Dios, Serv Dermatol, Santiago, Chile
dc.description.affiliation Pontificia Univ Catolica Chile, Santiago, Chile
dc.description.affiliation Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Dept Dermatol, Porto Alegre, RS, Brazil
dc.description.affiliation Univ Republica, Hosp Clin, Unidad Les Pigmentadas, Catedra Dermatol, Montevideo, Uruguay
dc.description.affiliation Univ Buenos Aires, Inst Invest Med A Lanari, Buenos Aires, DF, Argentina
dc.description.affiliation Consultorio Dermatol Drs Cohen Sabban & Cabo, Buenos Aires, DF, Argentina
dc.description.affiliation Hosp Especialidades Ctr Med Nacl La Raza, Mexico City, DF, Mexico
dc.description.affiliation Univ Monterrey, Escuela Med, Dept Ciencias Basicas, Monterrey, Mexico
dc.description.affiliation Univ Autonoma Nuevo Leon, Fac Med, Dept Introducc Clin, Monterrey, Mexico
dc.description.affiliation Hosp Univ Dr Jose Eleuterio Gonzalez, Serv Dermatol, Monterrey, Mexico
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil
dc.description.sponsorshipID GenoMEL: LSHC-CT-2006-018702
dc.description.sponsorshipID National Cancer Institute of the US National Institutes of Health: CA83115
dc.description.sponsorshipID Fondo de Investigaciones Sanitarias, Spain: 03/0019
dc.description.sponsorshipID Fondo de Investigaciones Sanitarias, Spain: 05/0302
dc.description.sponsorshipID Fondo de Investigaciones Sanitarias, Spain: 06/0265
dc.description.sponsorshipID Fondo de Investigaciones Sanitarias, Spain: 09/1393
dc.description.sponsorshipID Fondo de Investigaciones Sanitarias, Spain: 12/00840
dc.description.sponsorshipID Catalan Government, Spain: AGAUR 2014_SGR_603
dc.description.sponsorshipID Consejo Nacional de Ciencia y Tecnologia (CONACYT), Mexico: 152256/158706
dc.description.sponsorshipID FAPESP: 2007/04313-2
dc.identifier.file WOS000381136700012.pdf
dc.identifier.doi 10.1038/gim.2015.160
dc.description.source Web of Science
dc.identifier.wos WOS:000381136700012
dc.coverage New York
dc.citation.volume 18
dc.citation.issue 7



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