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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Bellido, Fernando; Pineda, Marta; Aiza, Gemma; Valdés-Mas, Rafael; Navarro, Matilde; Puente, Diana A; Pons, Tirso; González, Sara; Iglesias, Silvia; Darder, Esther; Piñol, Virginia; Soto, José Luís; Valencia, Alfonso; Blanco, Ignacio; Urioste, Miguel; Brunet, Joan; Lázaro, Conxi; Capellá, Gabriel; Puente, Xose S; Valle, Laura.
Afiliação
  • Bellido F; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
  • Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
  • Aiza G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
  • Valdés-Mas R; Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain.
  • Navarro M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
  • Puente DA; Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain.
  • Pons T; Structural Biology and Biocomputing Program, Spanish National Cancer Research Center (CNIO), Madrid, Spain.
  • González S; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
  • Iglesias S; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
  • Darder E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGi, Girona, Spain.
  • Piñol V; Gastroenterology Department, Hospital Dr. Josep Trueta, Girona, Spain.
  • Soto JL; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.
  • Valencia A; Molecular Genetics Laboratory, Elche University Hospital, Elche, Spain.
  • Blanco I; Structural Biology and Biocomputing Program, Spanish National Cancer Research Center (CNIO), Madrid, Spain.
  • Urioste M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
  • Brunet J; Familial Cancer Clinical Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO) and Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGi, Girona, Spain.
  • Capellá G; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.
  • Puente XS; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
  • Valle L; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
Genet Med ; 18(4): 325-32, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26133394
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais / Polipose Adenomatosa do Colo / DNA Polimerase II / DNA Polimerase III / Mutação Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Espanha País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais / Polipose Adenomatosa do Colo / DNA Polimerase II / DNA Polimerase III / Mutação Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Espanha País de publicação: Estados Unidos