| Literature DB >> 21387463 |
Maija R J Kohonen-Corish1, Finlay Macrae, Maurizio Genuardi, Stefan Aretz, Bharati Bapat, Inge T Bernstein, John Burn, Richard G H Cotton, Johan T den Dunnen, Thierry Frebourg, Marc S Greenblatt, Robert Hofstra, Elke Holinski-Feder, Ilkka Lappalainen, Annika Lindblom, Donna Maglott, Pål Møller, Hans Morreau, Gabriela Möslein, Rolf Sijmons, Amanda B Spurdle, Sean Tavtigian, Carli M J Tops, Thomas K Weber, Niels de Wind, Michael O Woods.
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.Entities:
Mesh：
Year: 2011 PMID： 21387463 DOI： 10.1002/humu.21450
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878