Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
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| Title: | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. |
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| Authors: | Thompson BA; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.; School of Medicine, University of Queensland, Brisbane, Australia., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Plazzer JP; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia., Greenblatt MS; Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA., Akagi K; Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan., Al-Mulla F; Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait., Bapat B; Department of Lab Medicine and Pathobiology, University of Toronto, Canada., Bernstein I; Danish HNPCC Registry, Copenhagen, Denmark.; Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark., Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain., den Dunnen JT; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., du Sart D; Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia., Fabre A; INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France., Farrell MP; Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland., Farrington SM; Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland., Frayling IM; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Frebourg T; Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France., Goldgar DE; Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA.; Huntsman Cancer Institute, Salt Lake City, UT, USA., Heinen CD; Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA.; Neag Comprehensive Cancer Center, UConn Health Center, Farmington, CT, USA., Holinski-Feder E; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany., Kohonen-Corish M; School of Medicine, University of Western Sydney, Sydney, Australia.; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia.; St Vincent's Clinical School, University of NSW, Sydney, Australia., Robinson KL; Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Leung SY; Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong., Martins A; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France., Moller P; Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway., Morak M; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany., Nystrom M; Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland., Peltomaki P; Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland., Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain., Qi M; Center for Genetic and Genomic Medicine, The First Affiliated Hospital of Zhejiang University School of Medicine, James Watson Institute of Genomic Sciences, Beijing Genome Institute, China.; University of Rochester Medical Center, NY, USA., Ramesar R; MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa., Rasmussen LJ; Center for Healthy Aging, University of Copenhagen, Denmark., Royer-Pokora B; Institute of Human Genetics, University of Düsseldorf, Germany., Scott RJ; Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia.; The Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia., Sijmons R; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Tavtigian SV; Huntsman Cancer Institute, Salt Lake City, UT, USA., Tops CM; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Weber T; State University of New York at Downstate, Brooklyn, NY, USA., Wijnen J; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Woods MO; Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL, Canada., Macrae F; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia., Genuardi M; Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy.; Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy. |
| Source: | Nature genetics [Nat Genet] 2014 Feb; Vol. 46 (2), pp. 107-115. Date of Electronic Publication: 2013 Dec 22. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 24362816 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Al-Mulla+F%22">Al-Mulla F</searchLink>; Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Bapat+B%22">Bapat B</searchLink>; Department of Lab Medicine and Pathobiology, University of Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Bernstein+I%22">Bernstein I</searchLink>; Danish HNPCC Registry, Copenhagen, Denmark.; Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Capellá+G%22">Capellá G</searchLink>; Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22den+Dunnen+JT%22">den Dunnen JT</searchLink>; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22du+Sart+D%22">du Sart D</searchLink>; 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Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA.; Huntsman Cancer Institute, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Heinen+CD%22">Heinen CD</searchLink>; Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA.; Neag Comprehensive Cancer Center, UConn Health Center, Farmington, CT, USA.<br /><searchLink fieldCode="AU" term="%22Holinski-Feder+E%22">Holinski-Feder E</searchLink>; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kohonen-Corish+M%22">Kohonen-Corish M</searchLink>; School of Medicine, University of Western Sydney, Sydney, Australia.; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia.; St Vincent's Clinical School, University of NSW, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Robinson+KL%22">Robinson KL</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Leung+SY%22">Leung SY</searchLink>; Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Martins+A%22">Martins A</searchLink>; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Moller+P%22">Moller P</searchLink>; Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Morak+M%22">Morak M</searchLink>; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Nystrom+M%22">Nystrom M</searchLink>; Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Peltomaki+P%22">Peltomaki P</searchLink>; Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Pineda+M%22">Pineda M</searchLink>; Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Qi+M%22">Qi M</searchLink>; Center for Genetic and Genomic Medicine, The First Affiliated Hospital of Zhejiang University School of Medicine, James Watson Institute of Genomic Sciences, Beijing Genome Institute, China.; University of Rochester Medical Center, NY, USA.<br /><searchLink fieldCode="AU" term="%22Ramesar+R%22">Ramesar R</searchLink>; MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa.<br /><searchLink fieldCode="AU" term="%22Rasmussen+LJ%22">Rasmussen LJ</searchLink>; Center for Healthy Aging, University of Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Royer-Pokora+B%22">Royer-Pokora B</searchLink>; Institute of Human Genetics, University of Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Scott+RJ%22">Scott RJ</searchLink>; Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia.; The Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Sijmons+R%22">Sijmons R</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tavtigian+SV%22">Tavtigian SV</searchLink>; Huntsman Cancer Institute, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Tops+CM%22">Tops CM</searchLink>; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Weber+T%22">Weber T</searchLink>; State University of New York at Downstate, Brooklyn, NY, USA.<br /><searchLink fieldCode="AU" term="%22Wijnen+J%22">Wijnen J</searchLink>; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Woods+MO%22">Woods MO</searchLink>; Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL, Canada.<br /><searchLink fieldCode="AU" term="%22Macrae+F%22">Macrae F</searchLink>; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.<br /><searchLink fieldCode="AU" term="%22Genuardi+M%22">Genuardi M</searchLink>; Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy.; Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2014 Feb; Vol. 46 (2), pp. 107-115. <i>Date of Electronic Publication: </i>2013 Dec 22. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; 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