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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Application of a five-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database</title><author><name sortKey="Thompson, Bryony A" sort="Thompson, Bryony A" uniqKey="Thompson B" first="Bryony A." last="Thompson">Bryony A. Thompson</name><affiliation><nlm:aff id="A1">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A2">School of Medicine, University of Queensland, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="A1">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Plazzer, John Paul" sort="Plazzer, John Paul" uniqKey="Plazzer J" first="John-Paul" last="Plazzer">John-Paul Plazzer</name><affiliation><nlm:aff id="A3">Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia</nlm:aff></affiliation></author><author><name sortKey="Greenblatt, Marc S" sort="Greenblatt, Marc S" uniqKey="Greenblatt M" first="Marc S." last="Greenblatt">Marc S. Greenblatt</name><affiliation><nlm:aff id="A4">Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA</nlm:aff></affiliation></author><author><name sortKey="Akagi, Kiwamu" sort="Akagi, Kiwamu" uniqKey="Akagi K" first="Kiwamu" last="Akagi">Kiwamu Akagi</name><affiliation><nlm:aff id="A5">Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan</nlm:aff></affiliation></author><author><name sortKey="Al Mulla, Fahd" sort="Al Mulla, Fahd" uniqKey="Al Mulla F" first="Fahd" last="Al-Mulla">Fahd Al-Mulla</name><affiliation><nlm:aff id="A6">Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait</nlm:aff></affiliation></author><author><name sortKey="Bapat, Bharati" sort="Bapat, Bharati" uniqKey="Bapat B" first="Bharati" last="Bapat">Bharati Bapat</name><affiliation><nlm:aff id="A7">Department of Lab Medicine and Pathobiology, University of Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Bernstein, Inge" sort="Bernstein, Inge" uniqKey="Bernstein I" first="Inge" last="Bernstein">Inge Bernstein</name><affiliation><nlm:aff id="A8">Danish HNPCC Registry, Copenhagen, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark</nlm:aff></affiliation></author><author><name sortKey="Capella, Gabriel" sort="Capella, Gabriel" uniqKey="Capella G" first="Gabriel" last="Capellá">Gabriel Capellá</name><affiliation><nlm:aff id="A10">Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T." last="Den Dunnen">Johan T. Den Dunnen</name><affiliation><nlm:aff id="A11">Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Du Sart, Desiree" sort="Du Sart, Desiree" uniqKey="Du Sart D" first="Desiree" last="Du Sart">Desiree Du Sart</name><affiliation><nlm:aff id="A12">Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Fabre, Aurelie" sort="Fabre, Aurelie" uniqKey="Fabre A" first="Aurelie" last="Fabre">Aurelie Fabre</name><affiliation><nlm:aff id="A13">INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Farrell, Michael P" sort="Farrell, Michael P" uniqKey="Farrell M" first="Michael P." last="Farrell">Michael P. Farrell</name><affiliation><nlm:aff id="A14">Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Farrington, Susan M" sort="Farrington, Susan M" uniqKey="Farrington S" first="Susan M." last="Farrington">Susan M. Farrington</name><affiliation><nlm:aff id="A15">Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland</nlm:aff></affiliation></author><author><name sortKey="Frayling, Ian M" sort="Frayling, Ian M" uniqKey="Frayling I" first="Ian M." last="Frayling">Ian M. Frayling</name><affiliation><nlm:aff id="A16">Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK</nlm:aff></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation><nlm:aff id="A17">Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="A18">Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Huntsman Cancer Institute, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Heinen, Christopher D" sort="Heinen, Christopher D" uniqKey="Heinen C" first="Christopher D." last="Heinen">Christopher D. Heinen</name><affiliation><nlm:aff id="A20">Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Neag Comprehensive Cancer Center, UConn Health Center, Farmington, CT, USA</nlm:aff></affiliation></author><author><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name><affiliation><nlm:aff id="A22">MGZ – Medizinisch Genetisches Zentrum, Munich, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Kohonen Corish, Maija" sort="Kohonen Corish, Maija" uniqKey="Kohonen Corish M" first="Maija" last="Kohonen-Corish">Maija Kohonen-Corish</name><affiliation><nlm:aff id="A24">School of Medicine, University of Western Sydney, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A25">The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A26">St Vincent’s Clinical School, University of NSW, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Robinson, Kristina Lagerstedt" sort="Robinson, Kristina Lagerstedt" uniqKey="Robinson K" first="Kristina Lagerstedt" last="Robinson">Kristina Lagerstedt Robinson</name><affiliation><nlm:aff id="A27">Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Leung, Suet Yi" sort="Leung, Suet Yi" uniqKey="Leung S" first="Suet Yi" last="Leung">Suet Yi Leung</name><affiliation><nlm:aff id="A28">Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong</nlm:aff></affiliation></author><author><name sortKey="Martins, Alexandra" sort="Martins, Alexandra" uniqKey="Martins A" first="Alexandra" last="Martins">Alexandra Martins</name><affiliation><nlm:aff id="A29">Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Moller, Pal" sort="Moller, Pal" uniqKey="Moller P" first="Pal" last="Moller">Pal Moller</name><affiliation><nlm:aff id="A30">Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Morak, Monika" sort="Morak, Monika" uniqKey="Morak M" first="Monika" last="Morak">Monika Morak</name><affiliation><nlm:aff id="A22">MGZ – Medizinisch Genetisches Zentrum, Munich, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Nystrom, Minna" sort="Nystrom, Minna" uniqKey="Nystrom M" first="Minna" last="Nystrom">Minna Nystrom</name><affiliation><nlm:aff id="A31">Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Peltomaki, Paivi" sort="Peltomaki, Paivi" uniqKey="Peltomaki P" first="Paivi" last="Peltomaki">Paivi Peltomaki</name><affiliation><nlm:aff id="A32">Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Pineda, Marta" sort="Pineda, Marta" uniqKey="Pineda M" first="Marta" last="Pineda">Marta Pineda</name><affiliation><nlm:aff id="A10">Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Qi, Ming" sort="Qi, Ming" uniqKey="Qi M" first="Ming" last="Qi">Ming Qi</name><affiliation><nlm:aff id="A33">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</nlm:aff></affiliation><affiliation><nlm:aff id="A34">University of Rochester Medical Center, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Ramesar, Rajkumar" sort="Ramesar, Rajkumar" uniqKey="Ramesar R" first="Rajkumar" last="Ramesar">Rajkumar Ramesar</name><affiliation><nlm:aff id="A35">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</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Lene Juel" sort="Rasmussen, Lene Juel" uniqKey="Rasmussen L" first="Lene Juel" last="Rasmussen">Lene Juel Rasmussen</name><affiliation><nlm:aff id="A36">Center for Healthy Aging, University of Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Royer Pokora, Brigitte" sort="Royer Pokora, Brigitte" uniqKey="Royer Pokora B" first="Brigitte" last="Royer-Pokora">Brigitte Royer-Pokora</name><affiliation><nlm:aff id="A37">Institute of Human Genetics, University of Düsseldorf, Germany</nlm:aff></affiliation></author><author><name sortKey="Scott, Rodney J" sort="Scott, Rodney J" uniqKey="Scott R" first="Rodney J." last="Scott">Rodney J. Scott</name><affiliation><nlm:aff id="A38">Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A39">The Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia</nlm:aff></affiliation></author><author><name sortKey="Sijmons, Rolf" sort="Sijmons, Rolf" uniqKey="Sijmons R" first="Rolf" last="Sijmons">Rolf Sijmons</name><affiliation><nlm:aff id="A40">Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V." last="Tavtigian">Sean V. Tavtigian</name><affiliation><nlm:aff id="A19">Huntsman Cancer Institute, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Tops, Carli M" sort="Tops, Carli M" uniqKey="Tops C" first="Carli M." last="Tops">Carli M. Tops</name><affiliation><nlm:aff id="A11">Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Weber, Thomas" sort="Weber, Thomas" uniqKey="Weber T" first="Thomas" last="Weber">Thomas Weber</name><affiliation><nlm:aff id="A41">State University of New York at Downstate, Brooklyn, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name><affiliation><nlm:aff id="A11">Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Woods, Michael O" sort="Woods, Michael O" uniqKey="Woods M" first="Michael O." last="Woods">Michael O. Woods</name><affiliation><nlm:aff id="A42">Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John’s, NL, Canada</nlm:aff></affiliation></author><author><name sortKey="Macrae, Finlay" sort="Macrae, Finlay" uniqKey="Macrae F" first="Finlay" last="Macrae">Finlay Macrae</name><affiliation><nlm:aff id="A3">Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia</nlm:aff></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><nlm:aff id="A43">Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24362816</idno><idno type="pmc">4294709</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294709</idno><idno type="RBID">PMC:4294709</idno><idno type="doi">10.1038/ng.2854</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002145</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002145</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Application of a five-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database</title><author><name sortKey="Thompson, Bryony A" sort="Thompson, Bryony A" uniqKey="Thompson B" first="Bryony A." last="Thompson">Bryony A. Thompson</name><affiliation><nlm:aff id="A1">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A2">School of Medicine, University of Queensland, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="A1">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Plazzer, John Paul" sort="Plazzer, John Paul" uniqKey="Plazzer J" first="John-Paul" last="Plazzer">John-Paul Plazzer</name><affiliation><nlm:aff id="A3">Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia</nlm:aff></affiliation></author><author><name sortKey="Greenblatt, Marc S" sort="Greenblatt, Marc S" uniqKey="Greenblatt M" first="Marc S." last="Greenblatt">Marc S. Greenblatt</name><affiliation><nlm:aff id="A4">Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA</nlm:aff></affiliation></author><author><name sortKey="Akagi, Kiwamu" sort="Akagi, Kiwamu" uniqKey="Akagi K" first="Kiwamu" last="Akagi">Kiwamu Akagi</name><affiliation><nlm:aff id="A5">Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan</nlm:aff></affiliation></author><author><name sortKey="Al Mulla, Fahd" sort="Al Mulla, Fahd" uniqKey="Al Mulla F" first="Fahd" last="Al-Mulla">Fahd Al-Mulla</name><affiliation><nlm:aff id="A6">Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait</nlm:aff></affiliation></author><author><name sortKey="Bapat, Bharati" sort="Bapat, Bharati" uniqKey="Bapat B" first="Bharati" last="Bapat">Bharati Bapat</name><affiliation><nlm:aff id="A7">Department of Lab Medicine and Pathobiology, University of Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Bernstein, Inge" sort="Bernstein, Inge" uniqKey="Bernstein I" first="Inge" last="Bernstein">Inge Bernstein</name><affiliation><nlm:aff id="A8">Danish HNPCC Registry, Copenhagen, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark</nlm:aff></affiliation></author><author><name sortKey="Capella, Gabriel" sort="Capella, Gabriel" uniqKey="Capella G" first="Gabriel" last="Capellá">Gabriel Capellá</name><affiliation><nlm:aff id="A10">Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T." last="Den Dunnen">Johan T. Den Dunnen</name><affiliation><nlm:aff id="A11">Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Du Sart, Desiree" sort="Du Sart, Desiree" uniqKey="Du Sart D" first="Desiree" last="Du Sart">Desiree Du Sart</name><affiliation><nlm:aff id="A12">Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Fabre, Aurelie" sort="Fabre, Aurelie" uniqKey="Fabre A" first="Aurelie" last="Fabre">Aurelie Fabre</name><affiliation><nlm:aff id="A13">INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Farrell, Michael P" sort="Farrell, Michael P" uniqKey="Farrell M" first="Michael P." last="Farrell">Michael P. Farrell</name><affiliation><nlm:aff id="A14">Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Farrington, Susan M" sort="Farrington, Susan M" uniqKey="Farrington S" first="Susan M." last="Farrington">Susan M. Farrington</name><affiliation><nlm:aff id="A15">Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland</nlm:aff></affiliation></author><author><name sortKey="Frayling, Ian M" sort="Frayling, Ian M" uniqKey="Frayling I" first="Ian M." last="Frayling">Ian M. Frayling</name><affiliation><nlm:aff id="A16">Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK</nlm:aff></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation><nlm:aff id="A17">Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="A18">Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Huntsman Cancer Institute, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Heinen, Christopher D" sort="Heinen, Christopher D" uniqKey="Heinen C" first="Christopher D." last="Heinen">Christopher D. Heinen</name><affiliation><nlm:aff id="A20">Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Neag Comprehensive Cancer Center, UConn Health Center, Farmington, CT, USA</nlm:aff></affiliation></author><author><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name><affiliation><nlm:aff id="A22">MGZ – Medizinisch Genetisches Zentrum, Munich, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Kohonen Corish, Maija" sort="Kohonen Corish, Maija" uniqKey="Kohonen Corish M" first="Maija" last="Kohonen-Corish">Maija Kohonen-Corish</name><affiliation><nlm:aff id="A24">School of Medicine, University of Western Sydney, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A25">The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A26">St Vincent’s Clinical School, University of NSW, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Robinson, Kristina Lagerstedt" sort="Robinson, Kristina Lagerstedt" uniqKey="Robinson K" first="Kristina Lagerstedt" last="Robinson">Kristina Lagerstedt Robinson</name><affiliation><nlm:aff id="A27">Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Leung, Suet Yi" sort="Leung, Suet Yi" uniqKey="Leung S" first="Suet Yi" last="Leung">Suet Yi Leung</name><affiliation><nlm:aff id="A28">Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong</nlm:aff></affiliation></author><author><name sortKey="Martins, Alexandra" sort="Martins, Alexandra" uniqKey="Martins A" first="Alexandra" last="Martins">Alexandra Martins</name><affiliation><nlm:aff id="A29">Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Moller, Pal" sort="Moller, Pal" uniqKey="Moller P" first="Pal" last="Moller">Pal Moller</name><affiliation><nlm:aff id="A30">Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Morak, Monika" sort="Morak, Monika" uniqKey="Morak M" first="Monika" last="Morak">Monika Morak</name><affiliation><nlm:aff id="A22">MGZ – Medizinisch Genetisches Zentrum, Munich, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Nystrom, Minna" sort="Nystrom, Minna" uniqKey="Nystrom M" first="Minna" last="Nystrom">Minna Nystrom</name><affiliation><nlm:aff id="A31">Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Peltomaki, Paivi" sort="Peltomaki, Paivi" uniqKey="Peltomaki P" first="Paivi" last="Peltomaki">Paivi Peltomaki</name><affiliation><nlm:aff id="A32">Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Pineda, Marta" sort="Pineda, Marta" uniqKey="Pineda M" first="Marta" last="Pineda">Marta Pineda</name><affiliation><nlm:aff id="A10">Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Qi, Ming" sort="Qi, Ming" uniqKey="Qi M" first="Ming" last="Qi">Ming Qi</name><affiliation><nlm:aff id="A33">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</nlm:aff></affiliation><affiliation><nlm:aff id="A34">University of Rochester Medical Center, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Ramesar, Rajkumar" sort="Ramesar, Rajkumar" uniqKey="Ramesar R" first="Rajkumar" last="Ramesar">Rajkumar Ramesar</name><affiliation><nlm:aff id="A35">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</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Lene Juel" sort="Rasmussen, Lene Juel" uniqKey="Rasmussen L" first="Lene Juel" last="Rasmussen">Lene Juel Rasmussen</name><affiliation><nlm:aff id="A36">Center for Healthy Aging, University of Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Royer Pokora, Brigitte" sort="Royer Pokora, Brigitte" uniqKey="Royer Pokora B" first="Brigitte" last="Royer-Pokora">Brigitte Royer-Pokora</name><affiliation><nlm:aff id="A37">Institute of Human Genetics, University of Düsseldorf, Germany</nlm:aff></affiliation></author><author><name sortKey="Scott, Rodney J" sort="Scott, Rodney J" uniqKey="Scott R" first="Rodney J." last="Scott">Rodney J. Scott</name><affiliation><nlm:aff id="A38">Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A39">The Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia</nlm:aff></affiliation></author><author><name sortKey="Sijmons, Rolf" sort="Sijmons, Rolf" uniqKey="Sijmons R" first="Rolf" last="Sijmons">Rolf Sijmons</name><affiliation><nlm:aff id="A40">Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V." last="Tavtigian">Sean V. Tavtigian</name><affiliation><nlm:aff id="A19">Huntsman Cancer Institute, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Tops, Carli M" sort="Tops, Carli M" uniqKey="Tops C" first="Carli M." last="Tops">Carli M. Tops</name><affiliation><nlm:aff id="A11">Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Weber, Thomas" sort="Weber, Thomas" uniqKey="Weber T" first="Thomas" last="Weber">Thomas Weber</name><affiliation><nlm:aff id="A41">State University of New York at Downstate, Brooklyn, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name><affiliation><nlm:aff id="A11">Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Woods, Michael O" sort="Woods, Michael O" uniqKey="Woods M" first="Michael O." last="Woods">Michael O. Woods</name><affiliation><nlm:aff id="A42">Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John’s, NL, Canada</nlm:aff></affiliation></author><author><name sortKey="Macrae, Finlay" sort="Macrae, Finlay" uniqKey="Macrae F" first="Finlay" last="Macrae">Finlay Macrae</name><affiliation><nlm:aff id="A3">Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia</nlm:aff></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><nlm:aff id="A43">Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy</nlm:aff></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P2">Clinical classification of sequence variants identified in hereditary disease genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch Syndrome genes <italic>MLH1</italic>, <italic>MSH2</italic>, <italic>MSH6</italic> and <italic>PMS2</italic>. Unpublished data submission was encouraged to assist variant classification, and recognized by microattribution. The scheme was refined by multidisciplinary expert committee review of clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants not obviously protein-truncating from nomenclature. This large-scale endeavor will facilitate consistent management of suspected Lynch Syndrome families, and demonstrates the value of multidisciplinary collaboration for curation and classification of variants in public locus-specific databases.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24362816</article-id><article-id pub-id-type="pmc">4294709</article-id><article-id pub-id-type="doi">10.1038/ng.2854</article-id><article-id pub-id-type="manuscript">NIHMS556130</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Application of a five-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database</article-title></title-group><contrib-group><contrib contrib-type="author" equal-contrib="yes"><name><surname>Thompson</surname><given-names>Bryony A.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Spurdle</surname><given-names>Amanda B.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Plazzer</surname><given-names>John-Paul</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Greenblatt</surname><given-names>Marc S.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Akagi</surname><given-names>Kiwamu</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Al-Mulla</surname><given-names>Fahd</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Bapat</surname><given-names>Bharati</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Bernstein</surname><given-names>Inge</given-names></name><xref ref-type="aff" rid="A8">8</xref><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Capellá</surname><given-names>Gabriel</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>den Dunnen</surname><given-names>Johan T.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>du Sart</surname><given-names>Desiree</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Fabre</surname><given-names>Aurelie</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Farrell</surname><given-names>Michael P.</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Farrington</surname><given-names>Susan M.</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Frayling</surname><given-names>Ian M.</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Frebourg</surname><given-names>Thierry</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>David E.</given-names></name><xref ref-type="aff" rid="A18">18</xref><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Heinen</surname><given-names>Christopher D.</given-names></name><xref ref-type="aff" rid="A20">20</xref><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Holinski-Feder</surname><given-names>Elke</given-names></name><xref ref-type="aff" rid="A22">22</xref><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Kohonen-Corish</surname><given-names>Maija</given-names></name><xref ref-type="aff" rid="A24">24</xref><xref ref-type="aff" rid="A25">25</xref><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Robinson</surname><given-names>Kristina Lagerstedt</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Leung</surname><given-names>Suet Yi</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Martins</surname><given-names>Alexandra</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Moller</surname><given-names>Pal</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Morak</surname><given-names>Monika</given-names></name><xref ref-type="aff" rid="A22">22</xref><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Nystrom</surname><given-names>Minna</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Peltomaki</surname><given-names>Paivi</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Pineda</surname><given-names>Marta</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Qi</surname><given-names>Ming</given-names></name><xref ref-type="aff" rid="A33">33</xref><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Ramesar</surname><given-names>Rajkumar</given-names></name><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Rasmussen</surname><given-names>Lene Juel</given-names></name><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Royer-Pokora</surname><given-names>Brigitte</given-names></name><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>Rodney J.</given-names></name><xref ref-type="aff" rid="A38">38</xref><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>Sijmons</surname><given-names>Rolf</given-names></name><xref ref-type="aff" rid="A40">40</xref></contrib><contrib contrib-type="author"><name><surname>Tavtigian</surname><given-names>Sean V.</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Tops</surname><given-names>Carli M.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Weber</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="A41">41</xref></contrib><contrib contrib-type="author"><name><surname>Wijnen</surname><given-names>Juul</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Woods</surname><given-names>Michael O.</given-names></name><xref ref-type="aff" rid="A42">42</xref></contrib><contrib contrib-type="author"><name><surname>Macrae</surname><given-names>Finlay</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Genuardi</surname><given-names>Maurizio</given-names></name><xref ref-type="aff" rid="A43">44</xref><xref ref-type="aff" rid="A44">45</xref></contrib><on-behalf-of>on behalf of InSiGHT</on-behalf-of><xref ref-type="author-notes" rid="FN1">43</xref></contrib-group><aff id="A1"><label>1</label>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia</aff><aff id="A2"><label>2</label>School of Medicine, University of Queensland, Brisbane, Australia</aff><aff id="A3"><label>3</label>Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia</aff><aff id="A4"><label>4</label>Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA</aff><aff id="A5"><label>5</label>Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan</aff><aff id="A6"><label>6</label>Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait</aff><aff id="A7"><label>7</label>Department of Lab Medicine and Pathobiology, University of Toronto, Canada</aff><aff id="A8"><label>8</label>Danish HNPCC Registry, Copenhagen, Denmark</aff><aff id="A9"><label>9</label>Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark</aff><aff id="A10"><label>10</label>Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain</aff><aff id="A11"><label>11</label>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</aff><aff id="A12"><label>12</label>Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia</aff><aff id="A13"><label>13</label>INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France</aff><aff id="A14"><label>14</label>Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland</aff><aff id="A15"><label>15</label>Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland</aff><aff id="A16"><label>16</label>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK</aff><aff id="A17"><label>17</label>Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France</aff><aff id="A18"><label>18</label>Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA</aff><aff id="A19"><label>19</label>Huntsman Cancer Institute, Salt Lake City, UT, USA</aff><aff id="A20"><label>20</label>Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA</aff><aff id="A21"><label>21</label>Neag Comprehensive Cancer Center, UConn Health Center, Farmington, CT, USA</aff><aff id="A22"><label>22</label>MGZ – Medizinisch Genetisches Zentrum, Munich, Germany</aff><aff id="A23"><label>23</label>Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany</aff><aff id="A24"><label>24</label>School of Medicine, University of Western Sydney, Sydney, Australia</aff><aff id="A25"><label>25</label>The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia</aff><aff id="A26"><label>26</label>St Vincent’s Clinical School, University of NSW, Sydney, Australia</aff><aff id="A27"><label>27</label>Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden</aff><aff id="A28"><label>28</label>Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong</aff><aff id="A29"><label>29</label>Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France</aff><aff id="A30"><label>30</label>Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway</aff><aff id="A31"><label>31</label>Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland</aff><aff id="A32"><label>32</label>Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland</aff><aff id="A33"><label>33</label>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</aff><aff id="A34"><label>34</label>University of Rochester Medical Center, NY, USA</aff><aff id="A35"><label>35</label>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</aff><aff id="A36"><label>36</label>Center for Healthy Aging, University of Copenhagen, Denmark</aff><aff id="A37"><label>37</label>Institute of Human Genetics, University of Düsseldorf, Germany</aff><aff id="A38"><label>38</label>Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia</aff><aff id="A39"><label>39</label>The Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia</aff><aff id="A40"><label>40</label>Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands</aff><aff id="A41"><label>41</label>State University of New York at Downstate, Brooklyn, NY, USA</aff><aff id="A42"><label>42</label>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John’s, NL, Canada</aff><aff id="A43"><label>44</label>Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy</aff><aff id="A44"><label>45</label>Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy</aff><author-notes><corresp id="CR1">Correspondence should be addressed to MG (<email>maurizio.genuardi@unifi.it</email>).</corresp><fn id="FN1"><label>43</label><p id="P1">A full list of InSiGHT collaborators assigned microattributions for this study appear at the end of the paper, with affiliations.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>9</day><month>1</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>22</day><month>12</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>2</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>14</day><month>1</month><year>2015</year></pub-date><volume>46</volume><issue>2</issue><fpage>107</fpage><lpage>115</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.2854</pmc-comment>
<abstract><p id="P2">Clinical classification of sequence variants identified in hereditary disease genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch Syndrome genes <italic>MLH1</italic>, <italic>MSH2</italic>, <italic>MSH6</italic> and <italic>PMS2</italic>. Unpublished data submission was encouraged to assist variant classification, and recognized by microattribution. The scheme was refined by multidisciplinary expert committee review of clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants not obviously protein-truncating from nomenclature. This large-scale endeavor will facilitate consistent management of suspected Lynch Syndrome families, and demonstrates the value of multidisciplinary collaboration for curation and classification of variants in public locus-specific databases.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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