DNA mismatch repair defects: role in colorectal carcinogenesis

S Jacob, F Praz - Biochimie, 2002 - Elsevier
The inactivation of the DNA mismah repair (MMR) system, which is associated with the
predisposition to the hereditary non-polyposis colorectal cancer (HNPCC), has also been
documented in nearly 20% of the sporadic colorectal cancers. These tumors are
characterized by a high frequency of microsatellite instability (MSI+ phenotype), resulting
from the accumulation of small insertions or deletions that frequently arise during replication
of these short repeated sequences. A germline mutation of one of the two major MMR genes …