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


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. A HVP-InSiGHT Workshop was held on the 10th of May 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 genotypephenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases ( 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.

Authors Kohonen-Corish, M.; Macrae, F.; Genuardi, M.; Aretz, S.; Bapat, B.; Bernstein, I.T.; Burn, J.; Cotton, R.; den Dunnen, J.T.; Frebourg, T.; Greenblatt, M.S.; Hofstra, R.; Holinksi-Feder, E.; Lappalainen, I.; Lindblom, A.; Maglott, D.; Moller, P.; Morreau, H.; Moslein, G.; Sijmons, R.; Spurdle, A.B.; Tavtigian, S.; Tops, C.M.J.; Weber, T.K.; de Wind, N.; Woods, M.
Responsible Garvan Author A/Prof Maija Kohonen-Corish
Published Date 2011-03-01
Published Volume 32
Published Issue 4
Published Pages 491-494
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version