Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010 |
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| Authors: | Kohonen-Corish Maija R J,Macrae Finlay,Genuardi Maurizio,Aretz Stefan,Bapat Bharati,Bernstein Inge T,Burn John,Cotton Richard G H,den Dunnen Johan T,Frebourg Thierry,Greenblatt Marc S,Hofstra Robert,Holinski-Feder Elke,Lappalainen Ilkka,Lindblom Annika,Maglott Donna,Møller Pål,Morreau Hans,Möslein Gabriela,Sijmons Rolf,Spurdle Amanda B,Tavtigian Sean,Tops Carli M J,Weber Thomas K,de Wind Niels,Woods Michael O Contributors to the InSiGHT-HVP Workshop |
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| Affiliation: | Cancer Research Program, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.corish@garvan.org.au |
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| 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. |
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| Keywords: | colon cancer HNPCC Pathogenicity variant InSiGHT HVP |
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