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>
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<wicri:noCountry code="subField">Institute</wicri:noCountry>
</affiliation>
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<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>
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<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2011-04">2011-04</date>
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<idno type="ISSN">1059-7794</idno>
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<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>
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<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>
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<term>Unclassified</term>
<term>Unclassified variants</term>
<term>Variant</term>
<term>Variant pathogenicity</term>
<term>Variome</term>
<term>Wide range</term>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Base de données</term>
<term>Génétique</term>
<term>Recherche médicale</term>
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<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>
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