title: DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention.
abstract: DNA mismatch repair is a postreplicative DNA repair cascade ensuring genomic integrity. Inactivating germline mutations in DNA mismatch repair genes are responsible for hereditary non-polyposis colorectal carcinoma syndrome (HNPCC), which predisposes to various types of visceral cancer. Most associated tumors exhibit high-grade microsatellite instability. Some patients develop skin tumors of the sebaceous glands. This combined occurrence is known as Muir-Torre syndrome, which has a high probability of an underlying DNA mismatch repair defect. This is also true for individuals selected solely on the basis of sebaceous neoplasias, tumors with the highest frequency of high-grade microsatellite instability. This article focuses on the recent advances in molecular diagnostics for the detection of DNA mismatch repair defects in patients with sebaceous neoplasias, and the potential significance for the secondary prevention of visceral cancer in these patients.
authors.affiliation: Department of Dermatology, University of Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany. rkruse@uni-duesseldorf.de
authors.forename: Roland
authors.initials: R
authors.lastname: Kruse
authors.forename: Thomas
authors.initials: T
authors.lastname: Ruzicka
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D020137:Base Pair Mismatch / Q000235:genetics; D002352:Carrier Proteins; D043171:Chromosomal Instability / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000517:prevention & control; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D009363:Neoplasm Proteins / Q000235:genetics; D018294:Neoplasms, Adnexal and Skin Appendage / Q000235:genetics*; D009687:Nuclear Proteins; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein