Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010
Identifieur interne : 000483 ( Istex/Curation ); précédent : 000482; suivant : 000484Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010
Auteurs : Maija R. J. Kohonen-Corish [Australie] ; Finlay Macrae ; Maurizio Genuardi ; Stefan Aretz [Allemagne] ; Bharati Bapat [Canada] ; Inge T. Bernstein [Danemark] ; John Burn [Royaume-Uni] ; Richard G. H. Cotton [Australie] ; Johan T. Den Dunnen [Pays-Bas] ; Thierry Frebourg [France] ; Marc S. Greenblatt [États-Unis] ; Robert Hofstra [Pays-Bas] ; Elke Holinski-Feder [Allemagne] ; Ilkka Lappalainen [Royaume-Uni] ; Annika Lindblom [Suède] ; Donna Maglott [États-Unis] ; P L M Ller [Norvège] ; Hans Morreau [Pays-Bas] ; Gabriela Möslein [Allemagne] ; Rolf Sijmons [Pays-Bas] ; Amanda B. Spurdle [Australie] ; Sean Tavtigian [États-Unis] ; Carli M. J. Tops [Pays-Bas] ; Thomas K. Weber [États-Unis] ; Niels De Wind [Pays-Bas] ; Michael O. Woods [Canada]Source :
- Human Mutation [ 1059-7794 ] ; 2011-04.
Descripteurs français
- Wicri :
- topic : Base de données, Génétique, Recherche médicale.
English descriptors
- KwdEn :
- Amanda spurdle, Assay, Bharati bapat, Biotechnology information, Central databases, Clinical genetics, Clinical significance, Colon, Colon cancer, Colon cancer family registry, Colon cancer susceptibility genes, Colorectal cancer, Database, Functional assays, Garvan institute, Gene, Gene variants, Genetics, Human genetics, Human mutation, Human variome project, Implementation meeting, Insight colon cancer gene variant databases, Insight workshop, International society, Large proportion, Leiden, Leiden university, Lovd platform, Maurizio genuardi, Medical research, Mismatch repair genes, Missense, Missense variants, Mutat, Mutat barnetson, Mutation, Pathogenicity, Phenotype, Phenotype information, Pilot program, Robert hofstra, Rolf sijmons, Sean tavtigian, Silico, Silico analysis, Tavtigian, Unclassified, Unclassified variants, Variant, Variant pathogenicity, Variome, Wide range.
- Teeft :
- Amanda spurdle, Assay, Bharati bapat, Biotechnology information, Central databases, Clinical genetics, Clinical significance, Colon, Colon cancer, Colon cancer family registry, Colon cancer susceptibility genes, Colorectal cancer, Database, Functional assays, Garvan institute, Gene, Gene variants, Genetics, Human genetics, Human mutation, Human variome project, Implementation meeting, Insight colon cancer gene variant databases, Insight workshop, International society, Large proportion, Leiden, Leiden university, Lovd platform, Maurizio genuardi, Medical research, Mismatch repair genes, Missense, Missense variants, Mutat, Mutat barnetson, Mutation, Pathogenicity, Phenotype, Phenotype information, Pilot program, Robert hofstra, Rolf sijmons, Sean tavtigian, Silico, Silico analysis, Tavtigian, Unclassified, Unclassified variants, Variant, Variant pathogenicity, Variome, Wide range.
Abstract
The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP‐InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype–phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program. Hum Mutat 32:1–4, 2011. © 2011 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.21450
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Finlay Macrae<affiliation><mods:affiliation>Depatment of Colorectal Medicine and Genetics, and University of Melbourne Department of Medicine, and The Royal Melbourne Hospital, Parkville, Victoria, Australia; Honorary Secretary, International Society for Gastrointestinal Hereditary Tumours (InSiGHT)</mods:affiliation><wicri:noCountry code="subField">(InSiGHT)</wicri:noCountry></affiliation><affiliation><mods:affiliation>Medical Genetics, Department of Clinical Pathophysiology, University of Florence; Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy; Tuscany Tumor Institute</mods:affiliation><wicri:noCountry code="subField">Institute</wicri:noCountry></affiliation>Le document en format XML
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Greenblatt</name><affiliation wicri:level="2"><mods:affiliation>University of Vermont College of Medicine, Burlington, Vermont</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Vermont</region></placeName><wicri:cityArea>University of Vermont College of Medicine, Burlington</wicri:cityArea></affiliation></author><author><name sortKey="Hofstra, Robert" sort="Hofstra, Robert" uniqKey="Hofstra R" first="Robert" last="Hofstra">Robert Hofstra</name><affiliation wicri:level="1"><mods:affiliation>University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea></affiliation></author><author><name sortKey="Holinski Eder, Elke" sort="Holinski Eder, Elke" uniqKey="Holinski Eder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name><affiliation wicri:level="1"><mods:affiliation>University Hospital of the Ludwig‐Maximilians‐University, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Hospital of the Ludwig‐Maximilians‐University, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Lappalainen, Ilkka" sort="Lappalainen, Ilkka" uniqKey="Lappalainen I" first="Ilkka" last="Lappalainen">Ilkka Lappalainen</name><affiliation wicri:level="1"><mods:affiliation>European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</mods:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm</wicri:regionArea></affiliation></author><author><name sortKey="Maglott, Donna" sort="Maglott, Donna" uniqKey="Maglott D" first="Donna" last="Maglott">Donna Maglott</name><affiliation wicri:level="2"><mods:affiliation>NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda, Maryland</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="M Ller, P L" sort="M Ller, P L" uniqKey="M Ller P" first="P L" last="M Ller">P L M Ller</name><affiliation wicri:level="1"><mods:affiliation>Section for Inherited Cancer, Department of Medical Genetics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway</mods:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Section for Inherited Cancer, Department of Medical Genetics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo</wicri:regionArea></affiliation></author><author><name sortKey="Morreau, Hans" sort="Morreau, Hans" uniqKey="Morreau H" first="Hans" last="Morreau">Hans Morreau</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pathology, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Moslein, Gabriela" sort="Moslein, Gabriela" uniqKey="Moslein G" first="Gabriela" last="Möslein">Gabriela Möslein</name><affiliation wicri:level="1"><mods:affiliation>HELIOS St. Josefs‐Hospital, Bochum, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>HELIOS St. Josefs‐Hospital, Bochum</wicri:regionArea></affiliation></author><author><name sortKey="Sijmons, Rolf" sort="Sijmons, Rolf" uniqKey="Sijmons R" first="Rolf" last="Sijmons">Rolf Sijmons</name><affiliation wicri:level="1"><mods:affiliation>University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Brisbane, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Brisbane</wicri:regionArea></affiliation></author><author><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name><affiliation wicri:level="2"><mods:affiliation>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Tops, Carli M J" sort="Tops, Carli M J" uniqKey="Tops C" first="Carli M. J." last="Tops">Carli M. J. Tops</name><affiliation wicri:level="1"><mods:affiliation>Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Weber, Thomas K" sort="Weber, Thomas K" uniqKey="Weber T" first="Thomas K." last="Weber">Thomas K. Weber</name><affiliation wicri:level="2"><mods:affiliation>Department of Surgery, State University of New York at Downstate, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Surgery, State University of New York at Downstate, New York</wicri:cityArea></affiliation></author><author><name sortKey="De Wind, Niels" sort="De Wind, Niels" uniqKey="De Wind N" first="Niels" last="De Wind">Niels De Wind</name><affiliation wicri:level="1"><mods:affiliation>Department of Toxicogenetics, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Toxicogenetics, Leiden University Medical Center, Leiden</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:19492A3E6D6DF2A41D9F42D265D81758CBE960E0</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/humu.21450</idno><idno type="url">https://api.istex.fr/document/19492A3E6D6DF2A41D9F42D265D81758CBE960E0/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000483</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000483</idno><idno type="wicri:Area/Istex/Curation">000483</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010</title><author><name sortKey="Kohonen Orish, Maija R J" sort="Kohonen Orish, Maija R J" uniqKey="Kohonen Orish M" first="Maija R. J." last="Kohonen-Corish">Maija R. J. Kohonen-Corish</name><affiliation wicri:level="1"><mods:affiliation>Cancer Research Program, Garvan Institute of Medical Research; St. Vincent's Clinical School, University of NSW, Sydney, NSW, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Research Program, Garvan Institute of Medical Research; St. Vincent's Clinical School, University of NSW, Sydney, NSW</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: m.corish@garvan.org.au</mods:affiliation><country wicri:rule="url">Australie</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Correspondence address: Cancer Research Program, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Correspondence address: Cancer Research Program, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010</wicri:regionArea></affiliation></author><author><name sortKey="Macrae, Finlay" sort="Macrae, Finlay" uniqKey="Macrae F" first="Finlay" last="Macrae">Finlay Macrae</name><affiliation><mods:affiliation>Depatment of Colorectal Medicine and Genetics, and University of Melbourne Department of Medicine, and The Royal Melbourne Hospital, Parkville, Victoria, Australia; Honorary Secretary, International Society for Gastrointestinal Hereditary Tumours (InSiGHT)</mods:affiliation><wicri:noCountry code="subField">(InSiGHT)</wicri:noCountry></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><mods:affiliation>Medical Genetics, Department of Clinical Pathophysiology, University of Florence; Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy; Tuscany Tumor Institute</mods:affiliation><wicri:noCountry code="subField">Institute</wicri:noCountry></affiliation></author><author><name sortKey="Aretz, Stefan" sort="Aretz, Stefan" uniqKey="Aretz S" first="Stefan" last="Aretz">Stefan Aretz</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, University of Bonn, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Bonn</wicri:regionArea></affiliation></author><author><name sortKey="Bapat, Bharati" sort="Bapat, Bharati" uniqKey="Bapat B" first="Bharati" last="Bapat">Bharati Bapat</name><affiliation wicri:level="1"><mods:affiliation>Samuel Lunenfeld Research Institute, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Samuel Lunenfeld Research Institute, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, ON</wicri:regionArea></affiliation></author><author><name sortKey="Bernstein, Inge T" sort="Bernstein, Inge T" uniqKey="Bernstein I" first="Inge T." last="Bernstein">Inge T. Bernstein</name><affiliation wicri:level="1"><mods:affiliation>HNPCC‐registret, Hvidovre University Hospital, Copenhagen, Denmark</mods:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>HNPCC‐registret, Hvidovre University Hospital, Copenhagen</wicri:regionArea></affiliation></author><author><name sortKey="Burn, John" sort="Burn, John" uniqKey="Burn J" first="John" last="Burn">John Burn</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Genetics, Newcastle University, Newcastle upon Tyne</wicri:regionArea></affiliation></author><author><name sortKey="Cotton, Richard G H" sort="Cotton, Richard G H" uniqKey="Cotton R" first="Richard G. H." last="Cotton">Richard G. H. Cotton</name><affiliation wicri:level="1"><mods:affiliation>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria 3053, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genomic Disorders Research Centre, Carlton South, Melbourne, Victoria 3053</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Human and Clinical Genetics, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation wicri:level="1"><mods:affiliation>Inserm U614, Faculty of Medicine, University of Rouen, Rouen, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U614, Faculty of Medicine, University of Rouen, Rouen</wicri:regionArea></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 wicri:level="2"><mods:affiliation>University of Vermont College of Medicine, Burlington, Vermont</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Vermont</region></placeName><wicri:cityArea>University of Vermont College of Medicine, Burlington</wicri:cityArea></affiliation></author><author><name sortKey="Hofstra, Robert" sort="Hofstra, Robert" uniqKey="Hofstra R" first="Robert" last="Hofstra">Robert Hofstra</name><affiliation wicri:level="1"><mods:affiliation>University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea></affiliation></author><author><name sortKey="Holinski Eder, Elke" sort="Holinski Eder, Elke" uniqKey="Holinski Eder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name><affiliation wicri:level="1"><mods:affiliation>University Hospital of the Ludwig‐Maximilians‐University, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Hospital of the Ludwig‐Maximilians‐University, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Lappalainen, Ilkka" sort="Lappalainen, Ilkka" uniqKey="Lappalainen I" first="Ilkka" last="Lappalainen">Ilkka Lappalainen</name><affiliation wicri:level="1"><mods:affiliation>European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</mods:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm</wicri:regionArea></affiliation></author><author><name sortKey="Maglott, Donna" sort="Maglott, Donna" uniqKey="Maglott D" first="Donna" last="Maglott">Donna Maglott</name><affiliation wicri:level="2"><mods:affiliation>NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda, Maryland</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NCBI‐National Center for Biotechnology Information, NLM/NIH, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="M Ller, P L" sort="M Ller, P L" uniqKey="M Ller P" first="P L" last="M Ller">P L M Ller</name><affiliation wicri:level="1"><mods:affiliation>Section for Inherited Cancer, Department of Medical Genetics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway</mods:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Section for Inherited Cancer, Department of Medical Genetics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo</wicri:regionArea></affiliation></author><author><name sortKey="Morreau, Hans" sort="Morreau, Hans" uniqKey="Morreau H" first="Hans" last="Morreau">Hans Morreau</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pathology, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Moslein, Gabriela" sort="Moslein, Gabriela" uniqKey="Moslein G" first="Gabriela" last="Möslein">Gabriela Möslein</name><affiliation wicri:level="1"><mods:affiliation>HELIOS St. Josefs‐Hospital, Bochum, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>HELIOS St. Josefs‐Hospital, Bochum</wicri:regionArea></affiliation></author><author><name sortKey="Sijmons, Rolf" sort="Sijmons, Rolf" uniqKey="Sijmons R" first="Rolf" last="Sijmons">Rolf Sijmons</name><affiliation wicri:level="1"><mods:affiliation>University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Brisbane, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Brisbane</wicri:regionArea></affiliation></author><author><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name><affiliation wicri:level="2"><mods:affiliation>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Tops, Carli M J" sort="Tops, Carli M J" uniqKey="Tops C" first="Carli M. J." last="Tops">Carli M. J. Tops</name><affiliation wicri:level="1"><mods:affiliation>Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Weber, Thomas K" sort="Weber, Thomas K" uniqKey="Weber T" first="Thomas K." last="Weber">Thomas K. Weber</name><affiliation wicri:level="2"><mods:affiliation>Department of Surgery, State University of New York at Downstate, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Surgery, State University of New York at Downstate, New York</wicri:cityArea></affiliation></author><author><name sortKey="De Wind, Niels" sort="De Wind, Niels" uniqKey="De Wind N" first="Niels" last="De Wind">Niels De Wind</name><affiliation wicri:level="1"><mods:affiliation>Department of Toxicogenetics, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Toxicogenetics, Leiden University Medical Center, Leiden</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">32</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="491">491</biblScope><biblScope unit="page" to="494">494</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-04">2011-04</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amanda spurdle</term><term>Assay</term><term>Bharati bapat</term><term>Biotechnology information</term><term>Central databases</term><term>Clinical genetics</term><term>Clinical significance</term><term>Colon</term><term>Colon cancer</term><term>Colon cancer family registry</term><term>Colon cancer susceptibility genes</term><term>Colorectal cancer</term><term>Database</term><term>Functional assays</term><term>Garvan institute</term><term>Gene</term><term>Gene variants</term><term>Genetics</term><term>Human genetics</term><term>Human mutation</term><term>Human variome project</term><term>Implementation meeting</term><term>Insight colon cancer gene variant databases</term><term>Insight workshop</term><term>International society</term><term>Large proportion</term><term>Leiden</term><term>Leiden university</term><term>Lovd platform</term><term>Maurizio genuardi</term><term>Medical research</term><term>Mismatch repair genes</term><term>Missense</term><term>Missense variants</term><term>Mutat</term><term>Mutat barnetson</term><term>Mutation</term><term>Pathogenicity</term><term>Phenotype</term><term>Phenotype information</term><term>Pilot program</term><term>Robert hofstra</term><term>Rolf sijmons</term><term>Sean tavtigian</term><term>Silico</term><term>Silico analysis</term><term>Tavtigian</term><term>Unclassified</term><term>Unclassified variants</term><term>Variant</term><term>Variant pathogenicity</term><term>Variome</term><term>Wide range</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Amanda spurdle</term><term>Assay</term><term>Bharati bapat</term><term>Biotechnology information</term><term>Central databases</term><term>Clinical genetics</term><term>Clinical significance</term><term>Colon</term><term>Colon cancer</term><term>Colon cancer family registry</term><term>Colon cancer susceptibility genes</term><term>Colorectal cancer</term><term>Database</term><term>Functional assays</term><term>Garvan institute</term><term>Gene</term><term>Gene variants</term><term>Genetics</term><term>Human genetics</term><term>Human mutation</term><term>Human variome project</term><term>Implementation meeting</term><term>Insight colon cancer gene variant databases</term><term>Insight workshop</term><term>International society</term><term>Large proportion</term><term>Leiden</term><term>Leiden university</term><term>Lovd platform</term><term>Maurizio genuardi</term><term>Medical research</term><term>Mismatch repair genes</term><term>Missense</term><term>Missense variants</term><term>Mutat</term><term>Mutat barnetson</term><term>Mutation</term><term>Pathogenicity</term><term>Phenotype</term><term>Phenotype information</term><term>Pilot program</term><term>Robert hofstra</term><term>Rolf sijmons</term><term>Sean tavtigian</term><term>Silico</term><term>Silico analysis</term><term>Tavtigian</term><term>Unclassified</term><term>Unclassified variants</term><term>Variant</term><term>Variant pathogenicity</term><term>Variome</term><term>Wide range</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Base de données</term><term>Génétique</term><term>Recherche médicale</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP‐InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype–phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program. Hum Mutat 32:1–4, 2011. © 2011 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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