title: Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: 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.
authors.forename: Susana
authors.initials: S
authors.lastname: Puig
authors.affiliation: Melanoma Unit, Dermatology Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
authors.forename: Miriam
authors.identifier: 0000-0003-2766-0765
authors.initials: M
authors.lastname: Potrony
authors.affiliation: 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.
authors.forename: Francisco
authors.initials: F
authors.lastname: Cuellar
authors.affiliation: 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.
authors.forename: Joan Anton
authors.initials: JA
authors.lastname: Puig-Butille
authors.affiliation: 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.
authors.forename: Cristina
authors.initials: C
authors.lastname: Carrera
authors.affiliation: 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.
authors.forename: Paula
authors.initials: P
authors.lastname: Aguilera
authors.affiliation: Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.|Universidad Católica de Valencia, Valencia, Spain.
authors.forename: Eduardo
authors.identifier: 0000-0003-3433-8707
authors.initials: E
authors.lastname: Nagore
authors.affiliation: Molecular Biology Unit, Instituto Valenciano de Oncologia, Valencia, Spain.
authors.forename: Zaida
authors.initials: Z
authors.lastname: Garcia-Casado
authors.affiliation: Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.
authors.forename: Celia
authors.initials: C
authors.lastname: Requena
authors.affiliation: Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
authors.forename: Rajiv
authors.identifier: 0000-0002-6093-0395
authors.initials: R
authors.lastname: Kumar
authors.affiliation: Escola Paulista de Medicina - UNIFESP, São Paulo, Brazil.|International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Gilles
authors.initials: G
authors.lastname: Landman
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Bianca
authors.initials: B
authors.lastname: Costa Soares de Sá
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Gisele
authors.initials: G
authors.lastname: Gargantini Rezze
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Luciana
authors.identifier: 0000-0003-3589-7041
authors.initials: L
authors.lastname: Facure
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Alexandre Leon Ribeiro
authors.initials: AL
authors.lastname: de Avila
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Achatz
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Dirce Maria
authors.initials: DM
authors.lastname: Carraro
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: João Pedreira
authors.identifier: 0000-0001-8968-4506
authors.initials: JP
authors.lastname: Duprat Neto
authors.affiliation: Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil.
authors.forename: Thais C
authors.initials: TC
authors.lastname: Grazziotin
authors.affiliation: Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil.
authors.forename: Renan R
authors.initials: RR
authors.lastname: Bonamigo
authors.affiliation: Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil.
authors.forename: Maria Carolina W
authors.initials: MC
authors.lastname: Rey
authors.affiliation: Servicio de Dermatología, Hospital Dr. Sótero del Río, Santiago de Chile, Chile.
authors.forename: Claudia
authors.initials: C
authors.lastname: Balestrini
authors.affiliation: Servicio de Dermatología, Hospital San Juan de Dios, Santiago, Chile.
authors.forename: Enrique
authors.initials: E
authors.lastname: Morales
authors.affiliation: Pontificia Universidad Católica de Chile, Santiago de Chile, Chile.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Molgo
authors.affiliation: Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: Renato Marchiori
authors.initials: RM
authors.lastname: Bakos
authors.affiliation: Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla
authors.affiliation: Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.affiliation: Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Larre Borges
authors.affiliation: Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
authors.forename: Virginia
authors.initials: V
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authors.affiliation: Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
authors.forename: Javiera
authors.initials: J
authors.lastname: Pérez
authors.affiliation: Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
authors.forename: Miguel
authors.initials: M
authors.lastname: Martínez
authors.affiliation: Instituto de Investigaciones Medicas "A Lanari," Universidad de Buenos Aires, Buenos Aires, Argentina.|Consultorio Dermatológico Drs. Cohen Sabban y Cabo, Buenos Aires, Argentina.
authors.forename: Horacio
authors.initials: H
authors.lastname: Cabo
authors.affiliation: Instituto de Investigaciones Medicas "A Lanari," Universidad de Buenos Aires, Buenos Aires, Argentina.|Consultorio Dermatológico Drs. Cohen Sabban y Cabo, Buenos Aires, Argentina.
authors.forename: Emilia
authors.initials: E
authors.lastname: Cohen Sabban
authors.affiliation: Consultorio Dermatológico Drs. Cohen Sabban y Cabo, Buenos Aires, Argentina.
authors.forename: Clara
authors.identifier: 0000-0002-7111-4078
authors.initials: C
authors.lastname: Latorre
authors.affiliation: Hospital Especialidades Centro Medico Nacional La Raza, Mexico, DF, Mexico.
authors.forename: Blanca
authors.initials: B
authors.lastname: Carlos-Ortega
authors.affiliation: Departamento de Ciencias Básicas, Escuela de Medicina Universidad de Monterrey, Monterrey, Mexico.
authors.forename: Julio C
authors.initials: JC
authors.lastname: Salas-Alanis
authors.affiliation: 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.
authors.forename: Roger
authors.initials: R
authors.lastname: Gonzalez
authors.affiliation: Servicio de Dermatología, Hospital Universitario "Dr. José Eleuterio González," Monterrey, Mexico.
authors.forename: Zulema
authors.initials: Z
authors.lastname: Olazaran
authors.affiliation: 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.
authors.forename: Josep
authors.initials: J
authors.lastname: Malvehy
authors.affiliation: 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.
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mesh_terms: D000328:Adult; D000368:Aged; D019941:Cyclin-Dependent Kinase Inhibitor p16; D050763:Cyclin-Dependent Kinase Inhibitor p18 / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012307:Risk Factors; D013030:Spain
chemical_list: C000614131:CDKN2A protein, human; D019941:Cyclin-Dependent Kinase Inhibitor p16; D050763:Cyclin-Dependent Kinase Inhibitor p18; D044102:Receptor, Melanocortin, Type 1