Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Identifieur interne : 003942 ( PubMed/Corpus ); précédent : 003941; suivant : 003943Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Auteurs : Bryony A. Thompson ; Amanda B. Spurdle ; John-Paul Plazzer ; Marc S. Greenblatt ; Kiwamu Akagi ; Fahd Al-Mulla ; Bharati Bapat ; Inge Bernstein ; Gabriel Capellá ; Johan T. Den Dunnen ; Desiree Du Sart ; Aurelie Fabre ; Michael P. Farrell ; Susan M. Farrington ; Ian M. Frayling ; Thierry Frebourg ; David E. Goldgar ; Christopher D. Heinen ; Elke Holinski-Feder ; Maija Kohonen-Corish ; Kristina Lagerstedt Robinson ; Suet Yi Leung ; Alexandra Martins ; Pal Moller ; Monika Morak ; Minna Nystrom ; Paivi Peltomaki ; Marta Pineda ; Ming Qi ; Rajkumar Ramesar ; Lene Juel Rasmussen ; Brigitte Royer-Pokora ; Rodney J. Scott ; Rolf Sijmons ; Sean V. Tavtigian ; Carli M. Tops ; Thomas Weber ; Juul Wijnen ; Michael O. Woods ; Finlay Macrae ; Maurizio GenuardiSource :
- Nature genetics [ 1546-1718 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- genetics : DNA Mismatch Repair, Gastrointestinal Neoplasms, Genetic Variation.
- methods : Classification.
- Databases, Genetic, Disease Management, Humans.
Abstract
The clinical classification of hereditary sequence variants identified in disease-related 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-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the 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 that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
DOI: 10.1038/ng.2854
PubMed: 24362816
Links to Exploration step
pubmed:24362816Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in 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:affiliation>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</nlm:affiliation></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:affiliation>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</nlm:affiliation></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:affiliation>Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.</nlm:affiliation></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:affiliation>Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Akagi, Kiwamu" sort="Akagi, Kiwamu" uniqKey="Akagi K" first="Kiwamu" last="Akagi">Kiwamu Akagi</name><affiliation><nlm:affiliation>Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.</nlm:affiliation></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:affiliation>Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait.</nlm:affiliation></affiliation></author><author><name sortKey="Bapat, Bharati" sort="Bapat, Bharati" uniqKey="Bapat B" first="Bharati" last="Bapat">Bharati Bapat</name><affiliation><nlm:affiliation>Department of Lab Medicine and Pathobiology, University of Toronto, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bernstein, Inge" sort="Bernstein, Inge" uniqKey="Bernstein I" first="Inge" last="Bernstein">Inge Bernstein</name><affiliation><nlm:affiliation>Danish HNPCC Registry, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Capella, Gabriel" sort="Capella, Gabriel" uniqKey="Capella G" first="Gabriel" last="Capellá">Gabriel Capellá</name><affiliation><nlm:affiliation>Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.</nlm:affiliation></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:affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation></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:affiliation>Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Fabre, Aurelie" sort="Fabre, Aurelie" uniqKey="Fabre A" first="Aurelie" last="Fabre">Aurelie Fabre</name><affiliation><nlm:affiliation>INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France.</nlm:affiliation></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:affiliation>Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland.</nlm:affiliation></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:affiliation>Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland.</nlm:affiliation></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:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation><nlm:affiliation>Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France.</nlm:affiliation></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:affiliation>Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA.</nlm:affiliation></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:affiliation>Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA.</nlm:affiliation></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:affiliation>MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.</nlm:affiliation></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:affiliation>School of Medicine, University of Western Sydney, Sydney, Australia.</nlm:affiliation></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:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.</nlm:affiliation></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:affiliation>Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.</nlm:affiliation></affiliation></author><author><name sortKey="Martins, Alexandra" sort="Martins, Alexandra" uniqKey="Martins A" first="Alexandra" last="Martins">Alexandra Martins</name><affiliation><nlm:affiliation>Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Moller, Pal" sort="Moller, Pal" uniqKey="Moller P" first="Pal" last="Moller">Pal Moller</name><affiliation><nlm:affiliation>Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Morak, Monika" sort="Morak, Monika" uniqKey="Morak M" first="Monika" last="Morak">Monika Morak</name><affiliation><nlm:affiliation>MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Nystrom, Minna" sort="Nystrom, Minna" uniqKey="Nystrom M" first="Minna" last="Nystrom">Minna Nystrom</name><affiliation><nlm:affiliation>Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Peltomaki, Paivi" sort="Peltomaki, Paivi" uniqKey="Peltomaki P" first="Paivi" last="Peltomaki">Paivi Peltomaki</name><affiliation><nlm:affiliation>Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Pineda, Marta" sort="Pineda, Marta" uniqKey="Pineda M" first="Marta" last="Pineda">Marta Pineda</name><affiliation><nlm:affiliation>Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Qi, Ming" sort="Qi, Ming" uniqKey="Qi M" first="Ming" last="Qi">Ming Qi</name><affiliation><nlm:affiliation>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:affiliation></affiliation></author><author><name sortKey="Ramesar, Rajkumar" sort="Ramesar, Rajkumar" uniqKey="Ramesar R" first="Rajkumar" last="Ramesar">Rajkumar Ramesar</name><affiliation><nlm:affiliation>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:affiliation></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:affiliation>Center for Healthy Aging, University of Copenhagen, Denmark.</nlm:affiliation></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:affiliation>Institute of Human Genetics, University of Düsseldorf, Germany.</nlm:affiliation></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:affiliation>Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Sijmons, Rolf" sort="Sijmons, Rolf" uniqKey="Sijmons R" first="Rolf" last="Sijmons">Rolf Sijmons</name><affiliation><nlm:affiliation>Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.</nlm:affiliation></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:affiliation>Huntsman Cancer Institute, Salt Lake City, UT, USA.</nlm:affiliation></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:affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Weber, Thomas" sort="Weber, Thomas" uniqKey="Weber T" first="Thomas" last="Weber">Thomas Weber</name><affiliation><nlm:affiliation>State University of New York at Downstate, Brooklyn, NY, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name><affiliation><nlm:affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation></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:affiliation>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Macrae, Finlay" sort="Macrae, Finlay" uniqKey="Macrae F" first="Finlay" last="Macrae">Finlay Macrae</name><affiliation><nlm:affiliation>Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><nlm:affiliation>Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24362816</idno><idno type="pmid">24362816</idno><idno type="doi">10.1038/ng.2854</idno><idno type="wicri:Area/PubMed/Corpus">003942</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003942</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in 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:affiliation>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</nlm:affiliation></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:affiliation>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</nlm:affiliation></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:affiliation>Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.</nlm:affiliation></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:affiliation>Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Akagi, Kiwamu" sort="Akagi, Kiwamu" uniqKey="Akagi K" first="Kiwamu" last="Akagi">Kiwamu Akagi</name><affiliation><nlm:affiliation>Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.</nlm:affiliation></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:affiliation>Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait.</nlm:affiliation></affiliation></author><author><name sortKey="Bapat, Bharati" sort="Bapat, Bharati" uniqKey="Bapat B" first="Bharati" last="Bapat">Bharati Bapat</name><affiliation><nlm:affiliation>Department of Lab Medicine and Pathobiology, University of Toronto, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bernstein, Inge" sort="Bernstein, Inge" uniqKey="Bernstein I" first="Inge" last="Bernstein">Inge Bernstein</name><affiliation><nlm:affiliation>Danish HNPCC Registry, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Capella, Gabriel" sort="Capella, Gabriel" uniqKey="Capella G" first="Gabriel" last="Capellá">Gabriel Capellá</name><affiliation><nlm:affiliation>Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.</nlm:affiliation></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:affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation></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:affiliation>Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Fabre, Aurelie" sort="Fabre, Aurelie" uniqKey="Fabre A" first="Aurelie" last="Fabre">Aurelie Fabre</name><affiliation><nlm:affiliation>INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France.</nlm:affiliation></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:affiliation>Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland.</nlm:affiliation></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:affiliation>Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland.</nlm:affiliation></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:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation><nlm:affiliation>Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France.</nlm:affiliation></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:affiliation>Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA.</nlm:affiliation></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:affiliation>Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA.</nlm:affiliation></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:affiliation>MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.</nlm:affiliation></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:affiliation>School of Medicine, University of Western Sydney, Sydney, Australia.</nlm:affiliation></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:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.</nlm:affiliation></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:affiliation>Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.</nlm:affiliation></affiliation></author><author><name sortKey="Martins, Alexandra" sort="Martins, Alexandra" uniqKey="Martins A" first="Alexandra" last="Martins">Alexandra Martins</name><affiliation><nlm:affiliation>Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Moller, Pal" sort="Moller, Pal" uniqKey="Moller P" first="Pal" last="Moller">Pal Moller</name><affiliation><nlm:affiliation>Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Morak, Monika" sort="Morak, Monika" uniqKey="Morak M" first="Monika" last="Morak">Monika Morak</name><affiliation><nlm:affiliation>MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Nystrom, Minna" sort="Nystrom, Minna" uniqKey="Nystrom M" first="Minna" last="Nystrom">Minna Nystrom</name><affiliation><nlm:affiliation>Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Peltomaki, Paivi" sort="Peltomaki, Paivi" uniqKey="Peltomaki P" first="Paivi" last="Peltomaki">Paivi Peltomaki</name><affiliation><nlm:affiliation>Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Pineda, Marta" sort="Pineda, Marta" uniqKey="Pineda M" first="Marta" last="Pineda">Marta Pineda</name><affiliation><nlm:affiliation>Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Qi, Ming" sort="Qi, Ming" uniqKey="Qi M" first="Ming" last="Qi">Ming Qi</name><affiliation><nlm:affiliation>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:affiliation></affiliation></author><author><name sortKey="Ramesar, Rajkumar" sort="Ramesar, Rajkumar" uniqKey="Ramesar R" first="Rajkumar" last="Ramesar">Rajkumar Ramesar</name><affiliation><nlm:affiliation>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:affiliation></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:affiliation>Center for Healthy Aging, University of Copenhagen, Denmark.</nlm:affiliation></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:affiliation>Institute of Human Genetics, University of Düsseldorf, Germany.</nlm:affiliation></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:affiliation>Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Sijmons, Rolf" sort="Sijmons, Rolf" uniqKey="Sijmons R" first="Rolf" last="Sijmons">Rolf Sijmons</name><affiliation><nlm:affiliation>Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.</nlm:affiliation></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:affiliation>Huntsman Cancer Institute, Salt Lake City, UT, USA.</nlm:affiliation></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:affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Weber, Thomas" sort="Weber, Thomas" uniqKey="Weber T" first="Thomas" last="Weber">Thomas Weber</name><affiliation><nlm:affiliation>State University of New York at Downstate, Brooklyn, NY, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name><affiliation><nlm:affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation></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:affiliation>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Macrae, Finlay" sort="Macrae, Finlay" uniqKey="Macrae F" first="Finlay" last="Macrae">Finlay Macrae</name><affiliation><nlm:affiliation>Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><nlm:affiliation>Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="eISSN">1546-1718</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Classification (methods)</term><term>DNA Mismatch Repair (genetics)</term><term>Databases, Genetic</term><term>Disease Management</term><term>Gastrointestinal Neoplasms (genetics)</term><term>Genetic Variation (genetics)</term><term>Humans</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DNA Mismatch Repair</term><term>Gastrointestinal Neoplasms</term><term>Genetic Variation</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Classification</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Databases, Genetic</term><term>Disease Management</term><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The clinical classification of hereditary sequence variants identified in disease-related 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-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the 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 that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24362816</PMID><DateCreated><Year>2014</Year><Month>01</Month><Day>29</Day></DateCreated><DateCompleted><Year>2014</Year><Month>03</Month><Day>25</Day></DateCompleted><DateRevised><Year>2017</Year><Month>11</Month><Day>07</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1546-1718</ISSN><JournalIssue CitedMedium="Internet"><Volume>46</Volume><Issue>2</Issue><PubDate><Year>2014</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Nature genetics</Title><ISOAbbreviation>Nat. Genet.</ISOAbbreviation></Journal><ArticleTitle>Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.</ArticleTitle><Pagination><MedlinePgn>107-115</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ng.2854</ELocationID><Abstract><AbstractText>The clinical classification of hereditary sequence variants identified in disease-related 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-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the 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 that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y" EqualContrib="Y"><LastName>Thompson</LastName><ForeName>Bryony A</ForeName><Initials>BA</Initials><AffiliationInfo><Affiliation>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Medicine, University of Queensland, Brisbane, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y" EqualContrib="Y"><LastName>Spurdle</LastName><ForeName>Amanda B</ForeName><Initials>AB</Initials><AffiliationInfo><Affiliation>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Plazzer</LastName><ForeName>John-Paul</ForeName><Initials>JP</Initials><AffiliationInfo><Affiliation>Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Greenblatt</LastName><ForeName>Marc S</ForeName><Initials>MS</Initials><AffiliationInfo><Affiliation>Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Akagi</LastName><ForeName>Kiwamu</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Al-Mulla</LastName><ForeName>Fahd</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bapat</LastName><ForeName>Bharati</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Lab Medicine and Pathobiology, University of Toronto, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bernstein</LastName><ForeName>Inge</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Danish HNPCC Registry, Copenhagen, Denmark.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Capellá</LastName><ForeName>Gabriel</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>den Dunnen</LastName><ForeName>Johan T</ForeName><Initials>JT</Initials><AffiliationInfo><Affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>du Sart</LastName><ForeName>Desiree</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fabre</LastName><ForeName>Aurelie</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farrell</LastName><ForeName>Michael P</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farrington</LastName><ForeName>Susan M</ForeName><Initials>SM</Initials><AffiliationInfo><Affiliation>Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frayling</LastName><ForeName>Ian M</ForeName><Initials>IM</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frebourg</LastName><ForeName>Thierry</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goldgar</LastName><ForeName>David E</ForeName><Initials>DE</Initials><AffiliationInfo><Affiliation>Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Huntsman Cancer Institute, Salt Lake City, UT, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Heinen</LastName><ForeName>Christopher D</ForeName><Initials>CD</Initials><AffiliationInfo><Affiliation>Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Neag Comprehensive Cancer Center, UConn Health Center, Farmington, CT, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Holinski-Feder</LastName><ForeName>Elke</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kohonen-Corish</LastName><ForeName>Maija</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>School of Medicine, University of Western Sydney, Sydney, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>St Vincent's Clinical School, University of NSW, Sydney, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Robinson</LastName><ForeName>Kristina Lagerstedt</ForeName><Initials>KL</Initials><AffiliationInfo><Affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leung</LastName><ForeName>Suet Yi</ForeName><Initials>SY</Initials><AffiliationInfo><Affiliation>Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martins</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Moller</LastName><ForeName>Pal</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Morak</LastName><ForeName>Monika</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nystrom</LastName><ForeName>Minna</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Peltomaki</LastName><ForeName>Paivi</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pineda</LastName><ForeName>Marta</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Qi</LastName><ForeName>Ming</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>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.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Rochester Medical Center, NY, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ramesar</LastName><ForeName>Rajkumar</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rasmussen</LastName><ForeName>Lene Juel</ForeName><Initials>LJ</Initials><AffiliationInfo><Affiliation>Center for Healthy Aging, University of Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Royer-Pokora</LastName><ForeName>Brigitte</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Düsseldorf, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scott</LastName><ForeName>Rodney J</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>The Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sijmons</LastName><ForeName>Rolf</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tavtigian</LastName><ForeName>Sean V</ForeName><Initials>SV</Initials><AffiliationInfo><Affiliation>Huntsman Cancer Institute, Salt Lake City, UT, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tops</LastName><ForeName>Carli M</ForeName><Initials>CM</Initials><AffiliationInfo><Affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Weber</LastName><ForeName>Thomas</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>State University of New York at Downstate, Brooklyn, NY, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wijnen</LastName><ForeName>Juul</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Woods</LastName><ForeName>Michael O</ForeName><Initials>MO</Initials><AffiliationInfo><Affiliation>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Macrae</LastName><ForeName>Finlay</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Genuardi</LastName><ForeName>Maurizio</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 CA115783</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U01 CA074799</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>MR/K018647/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>R01 CA115783-02</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U24 CA074783</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>12076</GrantID><Agency>Cancer Research UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>12-1087</GrantID><Agency>Worldwide Cancer Research</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>U24 CA074794</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U24 CA097735</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U01 CA074794</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>1R01CA164944</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 CA116201</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>090532</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>P50CA11620106</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U01 CA097735</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>UM1 CA167551</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 CA164944</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U01 CA074783</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U24 CA074799</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U24 CA074800</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U01 CA074800</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>12</Month><Day>22</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Nat Genet</MedlineTA><NlmUniqueID>9216904</NlmUniqueID><ISSNLinking>1061-4036</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2007 Nov;28(11):1047-54</RefSource><PMID Version="1">17594722</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2012 Mar;33(3):488-94</RefSource><PMID Version="1">22102614</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Genet. 2008 Sep;124(2):105-22</RefSource><PMID Version="1">18709565</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Oncol. 2004 Nov 15;22(22):4486-94</RefSource><PMID Version="1">15483016</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hered Cancer Clin Pract. 2012 Jul 23;10(1):9</RefSource><PMID Version="1">22824075</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2012 Dec;33(12):1617-25</RefSource><PMID Version="1">22833534</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genes Chromosomes Cancer. 2012 Jan;51(1):83-91</RefSource><PMID Version="1">22034109</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2008 Nov;29(11):1304-13</RefSource><PMID Version="1">18951448</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2012 Nov;33(11):1503-12</RefSource><PMID Version="1">22736453</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2008 Nov;29(11):1282-91</RefSource><PMID Version="1">18951446</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2011 Apr;32(4):491-4</RefSource><PMID Version="1">21387463</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2003 Sep;73(3):652-5</RefSource><PMID Version="1">12900794</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2013 Jan;34(1):200-9</RefSource><PMID Version="1">22949379</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2007 Jul;28(7):669-73</RefSource><PMID Version="1">17347989</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2011 Apr;43(4):295-301</RefSource><PMID Version="1">21423179</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2001 Jan;68(1):118-127</RefSource><PMID Version="1">11112663</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2012 Aug;49(8):525-32</RefSource><PMID Version="1">22889855</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Curr Opin Genet Dev. 2010 Jun;20(3):315-23</RefSource><PMID Version="1">20456937</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Gastroenterology. 2008 Aug;135(2):419-28</RefSource><PMID Version="1">18602922</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Natl Cancer Inst. 2004 Feb 18;96(4):261-8</RefSource><PMID Version="1">14970275</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2012 Sep 6;489(7414):57-74</RefSource><PMID Version="1">22955616</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Genet. 2011 Dec;80(6):558-65</RefSource><PMID Version="1">21204794</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cancer Epidemiol Biomarkers Prev. 2009 Sep;18(9):2460-7</RefSource><PMID Version="1">19723918</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2012 Jan;33(1):22-8</RefSource><PMID Version="1">21990165</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2008 Nov;29(11):1265-72</RefSource><PMID Version="1">18951437</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cancer Res. 2007 May 15;67(10):4595-604</RefSource><PMID Version="1">17510385</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13384-9</RefSource><PMID Version="1">20624957</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genet Med. 2008 Apr;10(4):294-300</RefSource><PMID Version="1">18414213</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biomed Inform. 2013 Oct;46(5):795-804</RefSource><PMID Version="1">23770041</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2006 Jun 29;354(26):2751-63</RefSource><PMID Version="1">16807412</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Gastroenterology. 1997 Oct;113(4):1146-58</RefSource><PMID Version="1">9322509</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 1999 Nov;65(5):1291-8</RefSource><PMID Version="1">10521294</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Int J Cancer. 2005 Sep 20;116(5):692-702</RefSource><PMID Version="1">15849733</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Oncol. 2012 Mar 20;30(9):958-64</RefSource><PMID Version="1">22331944</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Natl Cancer Inst. 2010 Feb 3;102(3):193-201</RefSource><PMID Version="1">20028993</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2009 May;30(5):757-70</RefSource><PMID Version="1">19267393</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Gut. 2013 Jun;62(6):812-23</RefSource><PMID Version="1">23408351</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2013 Jan;34(1):255-65</RefSource><PMID Version="1">22949387</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Cancer Res. 2007 May 15;13(10):2865-9</RefSource><PMID Version="1">17504984</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2008 Jan;29(1):6-13</RefSource><PMID Version="1">18000842</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>JAMA. 2011 Jun 8;305(22):2304-10</RefSource><PMID Version="1">21642682</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cancer Prev Res (Phila). 2010 Nov;3(11):1409-16</RefSource><PMID Version="1">20978114</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2010 Oct 28;467(7319):1061-73</RefSource><PMID Version="1">20981092</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Cancer Res. 2013 May 1;19(9):2432-41</RefSource><PMID Version="1">23403630</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Oncol. 2009 Oct 1;27(28):4793-7</RefSource><PMID Version="1">19720893</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Natl Cancer Inst. 2012 Sep 19;104(18):1363-72</RefSource><PMID Version="1">22933731</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2004 Oct;75(4):535-44</RefSource><PMID Version="1">15290653</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2007 Nov;81(5):873-83</RefSource><PMID Version="1">17924331</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2008 Nov;29(11):1314-26</RefSource><PMID Version="1">18951449</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2008 Nov;29(11):1273-81</RefSource><PMID Version="1">18951438</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Br J Cancer. 2010 Dec 7;103(12):1840-5</RefSource><PMID Version="1">21081928</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Dis Markers. 2004;20(4-5):269-76</RefSource><PMID Version="1">15528792</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2010 Aug;31(8):975-82</RefSource><PMID Version="1">20533529</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Fam Cancer. 2013 Jun;12(2):175-80</RefSource><PMID Version="1">23443670</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2008 Nov;29(11):1261-4</RefSource><PMID Version="1">18951436</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D002965" MajorTopicYN="N">Classification</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D053843" MajorTopicYN="N">DNA Mismatch Repair</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D030541" MajorTopicYN="Y">Databases, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019468" MajorTopicYN="N">Disease Management</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005770" MajorTopicYN="N">Gastrointestinal Neoplasms</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014644" MajorTopicYN="N">Genetic Variation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS556130</OtherID><OtherID Source="NLM">PMC4294709</OtherID><InvestigatorList><Investigator ValidYN="Y"><LastName>Thompson</LastName><ForeName>Bryony A</ForeName><Initials>BA</Initials></Investigator><Investigator ValidYN="Y"><LastName>Spurdle</LastName><ForeName>Amanda B</ForeName><Initials>AB</Initials></Investigator><Investigator ValidYN="Y"><LastName>Plazzer</LastName><ForeName>John-Paul</ForeName><Initials>JP</Initials></Investigator><Investigator ValidYN="Y"><LastName>Greenblatt</LastName><ForeName>Marc S</ForeName><Initials>MS</Initials></Investigator><Investigator ValidYN="Y"><LastName>Akagi</LastName><ForeName>Kiwamu</ForeName><Initials>K</Initials></Investigator><Investigator ValidYN="Y"><LastName>Al-Mulla</LastName><ForeName>Fahd</ForeName><Initials>F</Initials></Investigator><Investigator ValidYN="Y"><LastName>Bapat</LastName><ForeName>Bharati</ForeName><Initials>B</Initials></Investigator><Investigator ValidYN="Y"><LastName>Bernstein</LastName><ForeName>Inge</ForeName><Initials>I</Initials></Investigator><Investigator ValidYN="Y"><LastName>Capellá</LastName><ForeName>Gabriel</ForeName><Initials>G</Initials></Investigator><Investigator ValidYN="Y"><LastName>den Dunnen</LastName><ForeName>Johan T</ForeName><Initials>JT</Initials></Investigator><Investigator ValidYN="Y"><LastName>du Sart</LastName><ForeName>Desiree</ForeName><Initials>D</Initials></Investigator><Investigator ValidYN="Y"><LastName>Fabre</LastName><ForeName>Aurelie</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Farrell</LastName><ForeName>Michael P</ForeName><Initials>MP</Initials></Investigator><Investigator ValidYN="Y"><LastName>Farrington</LastName><ForeName>Susan M</ForeName><Initials>SM</Initials></Investigator><Investigator ValidYN="Y"><LastName>Frayling</LastName><ForeName>Ian M</ForeName><Initials>IM</Initials></Investigator><Investigator ValidYN="Y"><LastName>Frebourg</LastName><ForeName>Thierry</ForeName><Initials>T</Initials></Investigator><Investigator ValidYN="Y"><LastName>Goldgar</LastName><ForeName>David E</ForeName><Initials>DE</Initials></Investigator><Investigator ValidYN="Y"><LastName>Heinen</LastName><ForeName>Christopher D</ForeName><Initials>CD</Initials></Investigator><Investigator ValidYN="Y"><LastName>Holinski-Feder</LastName><ForeName>Elke</ForeName><Initials>E</Initials></Investigator><Investigator ValidYN="Y"><LastName>Kohonen-Corish</LastName><ForeName>Maija</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Robinson</LastName><ForeName>Kristina Lagerstedt</ForeName><Initials>KL</Initials></Investigator><Investigator ValidYN="Y"><LastName>Leung</LastName><ForeName>Suet Yi</ForeName><Initials>SY</Initials></Investigator><Investigator ValidYN="Y"><LastName>Martins</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Moller</LastName><ForeName>Pal</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Morak</LastName><ForeName>Monika</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Nystrom</LastName><ForeName>Minna</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Peltomaki</LastName><ForeName>Paivi</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Pineda</LastName><ForeName>Marta</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Qi</LastName><ForeName>Ming</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Ramesar</LastName><ForeName>Rajkumar</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN="Y"><LastName>Rasmussen</LastName><ForeName>Lene Juel</ForeName><Initials>LJ</Initials></Investigator><Investigator ValidYN="Y"><LastName>Royer-Pokora</LastName><ForeName>Brigitte</ForeName><Initials>B</Initials></Investigator><Investigator ValidYN="Y"><LastName>Scott</LastName><ForeName>Rodney J</ForeName><Initials>RJ</Initials></Investigator><Investigator ValidYN="Y"><LastName>Sijmons</LastName><ForeName>Rolf</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN="Y"><LastName>Tavtigian</LastName><ForeName>Sean V</ForeName><Initials>SV</Initials></Investigator><Investigator ValidYN="Y"><LastName>Tops</LastName><ForeName>Carli M</ForeName><Initials>CM</Initials></Investigator><Investigator ValidYN="Y"><LastName>Weber</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Investigator><Investigator ValidYN="Y"><LastName>Wijnen</LastName><ForeName>Juul</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN="Y"><LastName>Woods</LastName><ForeName>Michael O</ForeName><Initials>MO</Initials></Investigator><Investigator ValidYN="Y"><LastName>Macrae</LastName><ForeName>Finlay</ForeName><Initials>F</Initials></Investigator><Investigator ValidYN="Y"><LastName>Genuardi</LastName><ForeName>Maurizio</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Castillejo</LastName><ForeName>Adela</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Sexton</LastName><ForeName>Adrienne</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Chan</LastName><ForeName>Anthony K W</ForeName><Initials>AK</Initials></Investigator><Investigator ValidYN="Y"><LastName>Viel</LastName><ForeName>Alessandra</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Blanco</LastName><ForeName>Amie</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>French</LastName><ForeName>Amy</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Laner</LastName><ForeName>Andreas</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Wagner</LastName><ForeName>Anja</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>van den Ouweland</LastName><ForeName>Ans</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Mensenkamp</LastName><ForeName>Arjen</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Payá</LastName><ForeName>Artemio</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Betz</LastName><ForeName>Beate</ForeName><Initials>B</Initials></Investigator><Investigator ValidYN="Y"><LastName>Redeker</LastName><ForeName>Bert</ForeName><Initials>B</Initials></Investigator><Investigator ValidYN="Y"><LastName>Smith</LastName><ForeName>Betsy</ForeName><Initials>B</Initials></Investigator><Investigator ValidYN="Y"><LastName>Espenschied</LastName><ForeName>Carin</ForeName><Initials>C</Initials></Investigator><Investigator ValidYN="Y"><LastName>Cummings</LastName><ForeName>Carole</ForeName><Initials>C</Initials></Investigator><Investigator ValidYN="Y"><LastName>Engel</LastName><ForeName>Christoph</ForeName><Initials>C</Initials></Investigator><Investigator ValidYN="Y"><LastName>Fornes</LastName><ForeName>Claudia</ForeName><Initials>C</Initials></Investigator><Investigator ValidYN="Y"><LastName>Valenzuela</LastName><ForeName>Cristian</ForeName><Initials>C</Initials></Investigator><Investigator ValidYN="Y"><LastName>Alenda</LastName><ForeName>Cristina</ForeName><Initials>C</Initials></Investigator><Investigator ValidYN="Y"><LastName>Buchanan</LastName><ForeName>Daniel</ForeName><Initials>D</Initials></Investigator><Investigator ValidYN="Y"><LastName>Barana</LastName><ForeName>Daniela</ForeName><Initials>D</Initials></Investigator><Investigator ValidYN="Y"><LastName>Konstantinova</LastName><ForeName>Darina</ForeName><Initials>D</Initials></Investigator><Investigator ValidYN="Y"><LastName>Cairns</LastName><ForeName>Dianne</ForeName><Initials>D</Initials></Investigator><Investigator ValidYN="Y"><LastName>Glaser</LastName><ForeName>Elizabeth</ForeName><Initials>E</Initials></Investigator><Investigator ValidYN="Y"><LastName>Silva</LastName><ForeName>Felipe</ForeName><Initials>F</Initials></Investigator><Investigator ValidYN="Y"><LastName>Lalloo</LastName><ForeName>Fiona</ForeName><Initials>F</Initials></Investigator><Investigator ValidYN="Y"><LastName>Crucianelli</LastName><ForeName>Francesca</ForeName><Initials>F</Initials></Investigator><Investigator ValidYN="Y"><LastName>Hogervorst</LastName><ForeName>Frans</ForeName><Initials>F</Initials></Investigator><Investigator ValidYN="Y"><LastName>Casey</LastName><ForeName>Graham</ForeName><Initials>G</Initials></Investigator><Investigator ValidYN="Y"><LastName>Tomlinson</LastName><ForeName>Ian</ForeName><Initials>I</Initials></Investigator><Investigator ValidYN="Y"><LastName>Blanco</LastName><ForeName>Ignacio</ForeName><Initials>I</Initials></Investigator><Investigator ValidYN="Y"><LastName>Villar</LastName><ForeName>Isabel López</ForeName><Initials>IL</Initials></Investigator><Investigator ValidYN="Y"><LastName>Garcia-Planells</LastName><ForeName>Javier</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN="Y"><LastName>Bigler</LastName><ForeName>Jeanette</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN="Y"><LastName>Shia</LastName><ForeName>Jinru</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN="Y"><LastName>Martinez-Lopez</LastName><ForeName>Joaquin</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN="Y"><LastName>Gille</LastName><ForeName>Johan J P</ForeName><Initials>JJ</Initials></Investigator><Investigator ValidYN="Y"><LastName>Hopper</LastName><ForeName>John</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN="Y"><LastName>Potter</LastName><ForeName>John</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN="Y"><LastName>Soto</LastName><ForeName>José Luis</ForeName><Initials>JL</Initials></Investigator><Investigator ValidYN="Y"><LastName>Kantelinen</LastName><ForeName>Jukka</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN="Y"><LastName>Ellis</LastName><ForeName>Kate</ForeName><Initials>K</Initials></Investigator><Investigator ValidYN="Y"><LastName>Mann</LastName><ForeName>Kirsty</ForeName><Initials>K</Initials></Investigator><Investigator ValidYN="Y"><LastName>Varesco</LastName><ForeName>Liliana</ForeName><Initials>L</Initials></Investigator><Investigator ValidYN="Y"><LastName>Zhang</LastName><ForeName>Liying</ForeName><Initials>L</Initials></Investigator><Investigator ValidYN="Y"><LastName>Le Marchand</LastName><ForeName>Loic</ForeName><Initials>L</Initials></Investigator><Investigator ValidYN="Y"><LastName>Marafie</LastName><ForeName>Makia J</ForeName><Initials>MJ</Initials></Investigator><Investigator ValidYN="Y"><LastName>Nordling</LastName><ForeName>Margareta</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Tibiletti</LastName><ForeName>Maria Grazia</ForeName><Initials>MG</Initials></Investigator><Investigator ValidYN="Y"><LastName>Kahan</LastName><ForeName>Mariano Ariel</ForeName><Initials>MA</Initials></Investigator><Investigator ValidYN="Y"><LastName>Ligtenberg</LastName><ForeName>Marjolijn</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Clendenning</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Jenkins</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Speevak</LastName><ForeName>Marsha</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Digweed</LastName><ForeName>Martin</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Kloor</LastName><ForeName>Matthias</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Hitchins</LastName><ForeName>Megan</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Myers</LastName><ForeName>Megan</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Aronson</LastName><ForeName>Melyssa</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Valentin</LastName><ForeName>Mev Dominguez</ForeName><Initials>MD</Initials></Investigator><Investigator ValidYN="Y"><LastName>Kutsche</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Parsons</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Walsh</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Kansikas</LastName><ForeName>Minttu</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Zahary</LastName><ForeName>Mohd Nizam</ForeName><Initials>MN</Initials></Investigator><Investigator ValidYN="Y"><LastName>Pedroni</LastName><ForeName>Monica</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Heider</LastName><ForeName>Nao</ForeName><Initials>N</Initials></Investigator><Investigator ValidYN="Y"><LastName>Poplawski</LastName><ForeName>Nicola</ForeName><Initials>N</Initials></Investigator><Investigator ValidYN="Y"><LastName>Rahner</LastName><ForeName>Nils</ForeName><Initials>N</Initials></Investigator><Investigator ValidYN="Y"><LastName>Lindor</LastName><ForeName>Noralane M</ForeName><Initials>NM</Initials></Investigator><Investigator ValidYN="Y"><LastName>Sala</LastName><ForeName>Paola</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Nan</LastName><ForeName>Peng</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Propping</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Newcomb</LastName><ForeName>Polly</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Sarin</LastName><ForeName>Rajiv</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN="Y"><LastName>Haile</LastName><ForeName>Robert</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN="Y"><LastName>Hofstra</LastName><ForeName>Robert</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN="Y"><LastName>Ward</LastName><ForeName>Robyn</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN="Y"><LastName>Tricarico</LastName><ForeName>Rossella</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN="Y"><LastName>Bacares</LastName><ForeName>Ruben</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN="Y"><LastName>Young</LastName><ForeName>Sean</ForeName><Initials>S</Initials></Investigator><Investigator ValidYN="Y"><LastName>Chialina</LastName><ForeName>Sergio</ForeName><Initials>S</Initials></Investigator><Investigator ValidYN="Y"><LastName>Kovalenko</LastName><ForeName>Serguei</ForeName><Initials>S</Initials></Investigator><Investigator ValidYN="Y"><LastName>Gunawardena</LastName><ForeName>Shanaka R</ForeName><Initials>SR</Initials></Investigator><Investigator ValidYN="Y"><LastName>Moreno</LastName><ForeName>Sira</ForeName><Initials>S</Initials></Investigator><Investigator ValidYN="Y"><LastName>Ho</LastName><ForeName>Siu Lun</ForeName><Initials>SL</Initials></Investigator><Investigator ValidYN="Y"><LastName>Yuen</LastName><ForeName>Siu Tsan</ForeName><Initials>ST</Initials></Investigator><Investigator ValidYN="Y"><LastName>Thibodeau</LastName><ForeName>Stephen N</ForeName><Initials>SN</Initials></Investigator><Investigator ValidYN="Y"><LastName>Gallinger</LastName><ForeName>Steve</ForeName><Initials>S</Initials></Investigator><Investigator ValidYN="Y"><LastName>Burnett</LastName><ForeName>Terrilea</ForeName><Initials>T</Initials></Investigator><Investigator ValidYN="Y"><LastName>Teitsch</LastName><ForeName>Therese</ForeName><Initials>T</Initials></Investigator><Investigator ValidYN="Y"><LastName>Chan</LastName><ForeName>Tsun Leung</ForeName><Initials>TL</Initials></Investigator><Investigator ValidYN="Y"><LastName>Smyrk</LastName><ForeName>Tom</ForeName><Initials>T</Initials></Investigator><Investigator ValidYN="Y"><LastName>Cranston</LastName><ForeName>Treena</ForeName><Initials>T</Initials></Investigator><Investigator ValidYN="Y"><LastName>Psofaki</LastName><ForeName>Vasiliki</ForeName><Initials>V</Initials></Investigator><Investigator ValidYN="Y"><LastName>Steinke-Lange</LastName><ForeName>Verena</ForeName><Initials>V</Initials></Investigator><Investigator ValidYN="Y"><LastName>Barbera</LastName><ForeName>Victor-Manuel</ForeName><Initials>VM</Initials></Investigator></InvestigatorList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>09</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>11</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>12</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>12</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>3</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24362816</ArticleId><ArticleId IdType="doi">10.1038/ng.2854</ArticleId><ArticleId IdType="pmc">PMC4294709</ArticleId><ArticleId IdType="mid">NIHMS556130</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003942 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 003942 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:24362816
|texte= Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:24362816" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |