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Lookup NU author(s): Professor Sir John BurnORCiD
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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: 491-494, 2011. (C) 2011 Wiley-Liss, Inc.
Author(s): Kohonen-Corish MRJ, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RGH, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Moller P, Morreau H, Moslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CMJ, Weber TK, de Wind N, Woods MO, Contributors InSiGHT-HVP Workshop
Publication type: Editorial
Publication status: Published
Journal: Human Mutation
Print publication date: 08/03/2011
ISSN (print): 1059-7794
ISSN (electronic): 1098-1004
Publisher: John Wiley & Sons, Inc.