Differences between familial and sporadic forms of colorectal cancer with DNA microsatellite instability

SummaryMicrosatellite instability (MSI) is observed in approximately 13% of colorectal cancers. Genes containing a mononucleotide microsatellite in the coding sequence are particularly prone to inactivation in MSI tumourigenesis, and much work has been conducted to identify genes with high repetitive tract mutation rates in these tumours. MSI caused by deficient DNA mismatch-repair functions is a hallmark of cancers associated with the hereditary non-polyposis colorectal cancer syndrome but is also found in about 15% of all sporadic tumours.