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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V O; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M; Yamamoto, Gou; Baert-Desurmont, Stéphanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capellá, Gabriel; Tavtigian, Sean V; Latchford, Andrew; Frayling, Ian M; Plon, Sharon E; Greenblatt, Marc; Macrae, Finlay A; Aretz, Stefan.
Afiliación
  • Spier I; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) - Project ID No 739547.
  • Yin X; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, Australia; Department of Medicine, University of Melbourne, Parkville, Australia. Electronic address: xiaoyu.yin@mh.org.au.
  • Richardson M; Ambry Genetics, Aliso Viejo, CA.
  • Pineda M; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) - Project ID No 739547; Hereditary Cancer Program, Catalan Institute of Oncology - ONCOBELL, IDIBELL, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Salud Carlos III, Madrid, Spain.
  • Laner A; Medical Genetics Center Munich, MGZ Munich, Germany.
  • Ritter D; Baylor College of Medicine, Houston, TX; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.
  • Boyle J; Department of Oncological Sciences, School of Medicine, University of Utah, Salt Lake City, UT.
  • Mur P; Hereditary Cancer Program, Catalan Institute of Oncology - ONCOBELL, IDIBELL, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Salud Carlos III, Madrid, Spain.
  • Hansen TVO; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Shi X; Greenwood Genetic Center, Greenwood, SC.
  • Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, University of Melbourne, Parkville, Australia; Melbourne Bioinformatics, University of Melbourne, Parkville, Australia.
  • Plazzer JP; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, Australia.
  • Ognedal E; Haukeland University Hospital, Bergen, Norway.
  • Nordling M; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.
  • Farrington SM; Cancer Research UK Edinburgh Centre, the University of Edinburgh, Edinburgh, United Kingdom.
  • Yamamoto G; Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.
  • Baert-Desurmont S; Department of Genetics, Rouen University Hospital, Rouen, France.
  • Martins A; Department of Genetics, Rouen University Hospital, Rouen, France.
  • Borras E; Invitae, San Francisco, CA.
  • Tops C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Webb E; GeneDx, Gaithersburg, MD.
  • Beshay V; Peter MacCallum Cancer Centre, Melbourne, Australia.
  • Genuardi M; Fondazione Policlinico Universitario A. Gemelli IRCCS, and Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Pesaran T; Ambry Genetics, Aliso Viejo, CA.
  • Capellá G; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) - Project ID No 739547; Hereditary Cancer Program, Catalan Institute of Oncology - ONCOBELL, IDIBELL, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Salud Carlos III, Madrid, Spain.
  • Tavtigian SV; Department of Oncological Sciences, School of Medicine, University of Utah, Salt Lake City, UT; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
  • Latchford A; Polyposis Registry, St. Mark's Hospital, London, United Kingdom; Department of Surgery and Cancer, Imperial College, London, United Kingdom.
  • Frayling IM; Polyposis Registry, St. Mark's Hospital, London, United Kingdom; Inherited Tumour Syndromes Research Group, Institute of Cancer & Genetics, Cardiff University, United Kingdom.
  • Plon SE; Baylor College of Medicine, Houston, TX; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.
  • Greenblatt M; Larner College of Medicine, University of Vermont, Burlington, VT.
  • Macrae FA; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, Australia; Department of Medicine, University of Melbourne, Parkville, Australia.
  • Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) - Project ID No 739547.
Genet Med ; 26(2): 100992, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37800450
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Poliposis Adenomatosa del Colon Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Poliposis Adenomatosa del Colon Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article