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Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang, Qing; Leclerc, Julie; Bougeard, Gaëlle; Olschwang, Sylviane; Vasseur, Stéphanie; Cassinari, Kévin; Boidin, Denis; Lefol, Cédrick; Naïbo, Pierre; Frébourg, Thierry; Buisine, Marie Pierre; Baert-Desurmont, Stéphanie.
  • Wang Q; Centre Léon Bérard, Laboratory of constitutional genetics for frequent cancers HCL-CLB, Lyon, France qing.wang@lyon.unicancer.fr.
  • Leclerc J; Inserm UMR-S 1172, JPA Research Center, Lille University, and Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France.
  • Bougeard G; Department of Genetics, Rouen University Hospital and UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Olschwang S; Aix Marseille Université, INSERM GMGF UMR 1251; Département de Génétique Médicale, Hôpital Européen & Groupe Ramsay Générale de Santé, Hôpital Clairval, Aix Marseille Université, Marseille, France.
  • Vasseur S; Department of Genetics, Rouen University Hospital and UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Cassinari K; Department of Genetics, Rouen University Hospital and UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Boidin D; Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France.
  • Lefol C; Centre Léon Bérard, Laboratory of constitutional genetics for frequent cancers HCL-CLB, Lyon, France.
  • Naïbo P; Centre Léon Bérard, Laboratory of constitutional genetics for frequent cancers HCL-CLB, Lyon, France.
  • Frébourg T; Department of Genetics, Rouen University Hospital and UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Buisine MP; Inserm UMR-S 1172, JPA Research Center, Lille University, and Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France.
  • Baert-Desurmont S; Department of Genetics, Rouen University Hospital and UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
J Med Genet ; 57(7): 487-499, 2020 07.
Article en En | MEDLINE | ID: mdl-31992580
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Neoplasias Colorrectales Hereditarias sin Poliposis / Predisposición Genética a la Enfermedad / Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged País como asunto: Europa Idioma: En Año: 2020 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Neoplasias Colorrectales Hereditarias sin Poliposis / Predisposición Genética a la Enfermedad / Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged País como asunto: Europa Idioma: En Año: 2020 Tipo del documento: Article