Cancer Research Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Hum Mutat. 2011 Apr;32(4):491-4. doi: 10.1002/humu.21450. Epub 2011 Mar 8.
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.
人类变异组计划（HVP）已与国际胃肠道遗传性肿瘤学会（InSiGHT）建立了一个试点项目，以编纂所有影响结肠癌易感性基因的遗传变异。在 HVP 整合和实施会议于巴黎教科文组织举行之前，于 2010 年 5 月 10 日举行了 HVP-InSiGHT 研讨会，以审查该试点项目的进展情况。会议涵盖了广泛的主题，包括与基因型-表型数据提交给 InSiGHT 结肠癌基因变异数据库（chromium.liacs.nl/LOVD2/colon_cancer/home.php）相关的问题。会议还讨论了最近在使用计算机数据、肿瘤病理学信息和功能测定评估未分类变异体致病性的模型方面令人兴奋的发展，并为该试点项目的未来进展和可持续性制定了进一步的计划。
