The HVP/InSiGHT inherited colon cancer pilot
Those dealing with patients with inherited colon cancer, like any inherited disease, need lists of mutations and their effects when considering what to tell a patient and how to treat them. InSiGHT (http://www.insight-group.org) is a group that has been working together for many years, but the databases they created were incomplete and the software for each was different. Four databases have now been placed on the Leiden Open (source) Variation Database (LOVD) software,[13] developed over many years by HGVS members and others -- particularly Drs den Dunnen and Fokkema. This database now includes the databases of published mutations, unpublished mutations from laboratories, in vitro experiments and pathology. Data from countries around the world now include those from Canada, China, Germany and the US Cancer Family Registry. The next step in the pathway is mounting on general databases and browsers;[14] this has been performed by the tuberous sclerosis 2 (TSC2) database (http://www.LOVD.nl/TSC2), and many databases are on the University of California Santa Cruz (UCSC) Genome Browser [15]. Other databases are also pursuing global data (Fanconi Anaemia [http://www.rockefeller.edu/fanconi/mutate/] and Cystic Fibrosis [http://www.genet.sickkids.on.ca/cftr/]). Access to clinical data as a routine is now being examined.