Journal of Molecular Histology

, Volume 37, Issue 5, pp 271–283

DNA mismatch repair and Lynch syndrome

ORIGINAL PAPER

DOI: 10.1007/s10735-006-9038-5

Cite this article as:
Plotz, G., Zeuzem, S. & Raedle, J. J Mol Hist (2006) 37: 271. doi:10.1007/s10735-006-9038-5

Abstract

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.

Keywords

Mismatch repairLynch syndromeHNPCCHereditary non-polyposis colorectal cancerMSH2MLH1

Copyright information

© Springer Science+Business Media B.V. 2006

Authors and Affiliations

  1. 1.Klinik für Innere Medizin IIUniversitätsklinikum des SaarlandesHomburgGermany