caa a22 4500 467905673 CHVBK 20180406152833.0 cr unu---uuuuu 170328e20060901xx s 000 0 eng 10.1007/s10735-006-9038-5 doi (NATIONALLICENCE)springer-10.1007/s10735-006-9038-5 DNA mismatch repair and Lynch syndrome [Elektronische Daten] [Guido Plotz, Stefan Zeuzem, Jochen Raedle] 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 30years 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. Springer Science+Business Media B.V., 2006 Mismatch repair nationallicence Lynch syndrome nationallicence HNPCC nationallicence Hereditary non-polyposis colorectal cancer nationallicence MSH2 nationallicence MLH1 nationallicence Plotz Guido Klinik für Innere Medizin II, Universitätsklinikum des Saarlandes, Kirrberger Straße, Gebäude 41, D-66421, Homburg, Germany aut Zeuzem Stefan Klinik für Innere Medizin II, Universitätsklinikum des Saarlandes, Kirrberger Straße, Gebäude 41, D-66421, Homburg, Germany aut Raedle Jochen Klinik für Innere Medizin II, Universitätsklinikum des Saarlandes, Kirrberger Straße, Gebäude 41, D-66421, Homburg, Germany aut Journal of Molecular Histology Kluwer Academic Publishers 37/5-7(2006-09-01), 271-283 1567-2379 37:5-7<271 2006 37 10735 https://doi.org/10.1007/s10735-006-9038-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10735-006-9038-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Plotz Guido Klinik für Innere Medizin II, Universitätsklinikum des Saarlandes, Kirrberger Straße, Gebäude 41, D-66421, Homburg, Germany aut NATIONALLICENCE 700 1- Zeuzem Stefan Klinik für Innere Medizin II, Universitätsklinikum des Saarlandes, Kirrberger Straße, Gebäude 41, D-66421, Homburg, Germany aut NATIONALLICENCE 700 1- Raedle Jochen Klinik für Innere Medizin II, Universitätsklinikum des Saarlandes, Kirrberger Straße, Gebäude 41, D-66421, Homburg, Germany aut NATIONALLICENCE 773 0- Journal of Molecular Histology Kluwer Academic Publishers 37/5-7(2006-09-01), 271-283 1567-2379 37:5-7<271 2006 37 10735 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer