ePrints

Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

Lookup NU author(s): Professor Sir John BurnORCiD

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

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: 491-494, 2011. (C) 2011 Wiley-Liss, Inc.

Publication metadata

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

Year: 2011

Volume: 32

Issue: 4

Pages: 491-494

Print publication date: 08/03/2011

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/humu.21450

DOI: 10.1002/humu.21450

Share