Výsledky vyhledávání

Akademický článek

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Autor: Yin X; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, VIC, Australia; Department of Medicine, University of Melbourne, Parkville, VIC, Australia; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Richardson M; Ambry Genetics, Aliso Viejo, CA, USA., Laner A; Medical Genetics Center Munich, MGZ Munich, Germany., Shi X; Greenwood Genetic Center, Greenwood, SC, USA., Ognedal E; Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway., Vasta V; Northwest Genomics Center, Department of Genome Sciences, University of Washington, Seattle, WA, USA., 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., Pineda M; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands; 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., Ritter D; Baylor College of Medicine, Houston, TX, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX, USA., de Dunnen J; Departments of Human Genetics & Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Hassanin E; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Lin WL; St Vincents Hospital Melbourne, East Melbourne, VIC, Australia., Borras E; Invitae Corporation, San Francisco, CA, USA., Krahn K; GeneDx, Gaithersburg, MD, USA., Nordling M; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden., Martins A; Université de Rouen Normandie, Inserm U1245, 76000 Rouen, France., Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, University of Melbourne, Melbourne, VIC, Australia., Nadeau E; Department of Medicine, Larner College of Medicine, University of Vermont, Burlington, VT, USA., Beshay V; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Tops C; Departments of Human Genetics & Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., 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, USA., Frayling IM; Polyposis Registry, St Mark's Hospital, London, UK; Inherited Tumour Syndromes Research Group, Institute of Cancer & Genetics, Cardiff University, Cardiff, UK; National Centre for Colorectal Disease, St Vincent's University Hospital, Dublin, Ireland., Capellá G; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands; 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., Latchford A; Polyposis Registry, St Mark's Hospital, London, UK; Department of Surgery and Cancer, Imperial College, London, UK., Tavtigian SV; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA; Department of Oncological Sciences, School of Medicine, University of Utah, Salt Lake City, UT, USA., Maj C; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany; Centre for Human Genetics, University of Marburg, Marburg, Germany., Plon SE; Baylor College of Medicine, Houston, TX, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX, USA., Greenblatt MS; Department of Medicine, Larner College of Medicine, University of Vermont, Burlington, VT, USA., Macrae FA; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, VIC, Australia; Department of Medicine, University of Melbourne, Parkville, VIC, Australia., Spier I; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany. Electronic address: stefan.aretz@uni-bonn.de.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2427-2443. Date of Electronic Publication: 2024 Oct 01.

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání