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

Maurizio Genuardi, Maija R.J. Kohonen-Corish, Finlay Macrae, 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 SijmonsAmanda B. Spurdle, Sean Tavtigian, Carli M.J. Tops, Thomas K. Weber, Niels De Wind, Michael O. Woods

Risultato della ricerca: Contributo in rivistaArticolo in rivista

15 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)491-494
Numero di pagine4
RivistaHuman Mutation
Volume32
DOI
Stato di pubblicazionePubblicato - 2011

Keywords

  • CLASSIFICATION
  • COLORECTAL-CANCER
  • DATABASE
  • MISMATCH-REPAIR GENES
  • MLH1
  • MUTATIONS
  • SEQUENCE VARIANTS

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