Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010
Identifieur interne : 006458 ( Main/Exploration ); précédent : 006457; suivant : 006459Deciphering 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
Affiliations:
- Allemagne, Australie, Canada, Danemark, France, Norvège, Pays-Bas, Royaume-Uni, Suède, États-Unis
- Bavière, District de Haute-Bavière, Groningue (province), Haute-Normandie, Hollande-Méridionale, Hovedstaden, Maryland, Ontario, Région Normandie, Svealand, Utah, Vermont, État de New York, Østlandet
- Copenhague, Groningue, Leyde, Munich, Oslo, Rouen, Stockholm, Toronto
- Université de Toronto
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 000483
- to stream Istex, to step Curation: 000483
- to stream Istex, to step Checkpoint: 000878
- to stream Main, to step Merge: 006835
- to stream Main, to step Curation: 006458
Le document en format XML
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Spurdle</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name><affiliation wicri:level="2"><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="3"><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><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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"><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="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Toxicogenetics, Leiden University Medical Center, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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"><country xml:lang="fr">Canada</country><wicri:regionArea>Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland</wicri:regionArea><wicri:noRegion>Newfoundland</wicri:noRegion></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><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>Danemark</li><li>France</li><li>Norvège</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suède</li><li>États-Unis</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li><li>Groningue (province)</li><li>Haute-Normandie</li><li>Hollande-Méridionale</li><li>Hovedstaden</li><li>Maryland</li><li>Ontario</li><li>Région Normandie</li><li>Svealand</li><li>Utah</li><li>Vermont</li><li>État de New York</li><li>Østlandet</li></region><settlement><li>Copenhague</li><li>Groningue</li><li>Leyde</li><li>Munich</li><li>Oslo</li><li>Rouen</li><li>Stockholm</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><noCountry><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><name sortKey="Macrae, Finlay" sort="Macrae, Finlay" uniqKey="Macrae F" first="Finlay" last="Macrae">Finlay Macrae</name></noCountry><country name="Australie"><noRegion><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></noRegion><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><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><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><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name></country><country name="Allemagne"><noRegion><name sortKey="Aretz, Stefan" sort="Aretz, Stefan" uniqKey="Aretz S" first="Stefan" last="Aretz">Stefan Aretz</name></noRegion><name sortKey="Holinski Eder, Elke" sort="Holinski Eder, Elke" uniqKey="Holinski Eder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name><name sortKey="Moslein, Gabriela" sort="Moslein, Gabriela" uniqKey="Moslein G" first="Gabriela" last="Möslein">Gabriela Möslein</name></country><country name="Canada"><region name="Ontario"><name sortKey="Bapat, Bharati" sort="Bapat, Bharati" uniqKey="Bapat B" first="Bharati" last="Bapat">Bharati Bapat</name></region><name sortKey="Woods, Michael O" sort="Woods, Michael O" uniqKey="Woods M" first="Michael O." last="Woods">Michael O. Woods</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Bernstein, Inge T" sort="Bernstein, Inge T" uniqKey="Bernstein I" first="Inge T." last="Bernstein">Inge T. Bernstein</name></region></country><country name="Royaume-Uni"><noRegion><name sortKey="Burn, John" sort="Burn, John" uniqKey="Burn J" first="John" last="Burn">John Burn</name></noRegion><name sortKey="Lappalainen, Ilkka" sort="Lappalainen, Ilkka" uniqKey="Lappalainen I" first="Ilkka" last="Lappalainen">Ilkka Lappalainen</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><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></region><name sortKey="De Wind, Niels" sort="De Wind, Niels" uniqKey="De Wind N" first="Niels" last="De Wind">Niels De Wind</name><name sortKey="Hofstra, Robert" sort="Hofstra, Robert" uniqKey="Hofstra R" first="Robert" last="Hofstra">Robert Hofstra</name><name sortKey="Morreau, Hans" sort="Morreau, Hans" uniqKey="Morreau H" first="Hans" last="Morreau">Hans Morreau</name><name sortKey="Sijmons, Rolf" sort="Sijmons, Rolf" uniqKey="Sijmons R" first="Rolf" last="Sijmons">Rolf Sijmons</name><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></country><country name="France"><region name="Région Normandie"><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name></region></country><country name="États-Unis"><region name="Vermont"><name sortKey="Greenblatt, Marc S" sort="Greenblatt, Marc S" uniqKey="Greenblatt M" first="Marc S." last="Greenblatt">Marc S. Greenblatt</name></region><name sortKey="Maglott, Donna" sort="Maglott, Donna" uniqKey="Maglott D" first="Donna" last="Maglott">Donna Maglott</name><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name><name sortKey="Weber, Thomas K" sort="Weber, Thomas K" uniqKey="Weber T" first="Thomas K." last="Weber">Thomas K. Weber</name></country><country name="Suède"><region name="Svealand"><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name></region></country><country name="Norvège"><region name="Østlandet"><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></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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