Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

MRJ Kohonen-Corish; F Macrae; M Genuardi; S Aretz; B Bapat; IT Bernstein; J Burn; RGH Cotton; JT den Dunnen; T Frebourg; MS Greenblatt; R Hofstra; E Holinski-Feder; I Lappalainen; A Lindblom; D Maglott; P Møller; H Morreau; G Möslein; R Sijmons; AB Spurdle; S Tavtigian; CMJ Tops; TK Weber; N de Wind; MO Woods

Journal article

Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

MRJ Kohonen-Corish, F Macrae, M Genuardi, S Aretz, B Bapat, IT Bernstein, J Burn, RGH Cotton, JT den Dunnen, T Frebourg, MS Greenblatt, R Hofstra, E Holinski-Feder, I Lappalainen, A Lindblom, D Maglott, P Møller, H Morreau, G Möslein, R Sijmons Show all

Human Mutation | WILEY-BLACKWELL | Published : 2011

DOI: 10.1002/humu.21450

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..

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