"DNA mismatch repair and Lynch syndrome."
Plotz G, Zeuzem S, Raedle J
The evolutionary conserved mismatch repair proteins correct a wide range
of DNA replication errors. Their importance as guardians of genetic
integrity is reflected by the tremendous decrease of replication fidelity
(two to three orders of magnitude) conferred by their loss. Germline
mutations in mismatch repair genes, predominantly MSH2 and MLH1, have been
found to underlie the Lynch syndrome (also called hereditary non-polyposis
colorectal cancer, HNPCC), a hereditary predisposition for cancer. Lynch
syndrome affects predominantly the colon and accounts for 2-5% of all
colon cancer cases. During more than 30 years of biochemical,
crystallographic and clinical research, deep insight has been achieved in
the function of mismatch repair and the diseases that are associated with
its loss. We review the biochemistry of mismatch repair and also introduce
the clinical, diagnostic and genetic aspects of Lynch syndrome.
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Last modification of this entry: Dec. 9, 2009
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