Rüschoff, J. and Roggendorf, B. and Brasch, F. and Mathiak, M. and Aust, D. E. and Plaschke, J. and Mueller, W. and Poremba, C. and Kloor, M. and Keller, G. and Muders, M. and Blasenbreu-Vogt, S. and Ruemmele, P. and Mueller, A. and Buettner, R. (2004) Molecular pathology in hereditary colorectal cancer. Recommendations of the collaborative German study group on hereditary colorectal cancer funded by the German cancer aid (Deutsche krebshilfe). PATHOLOGE, 25 (3). pp. 178-192. ISSN 0172-8113, 1432-1963
Full text not available from this repository. (Request a copy)Abstract
Although twin studies indicate that inherited genetic factors contribute to about 35% of colorectal cancers (CRC),the exact genetic background has currently been elucidated in only 5-10% of cases. These comprise several hereditary cancer predisposition syndromes that present with a high number of syn- or metachronous neoplasms within an affected person and/or family. Many of these tumors exhibit typical histopathological changes. In general,one should discriminate between cancer syndromes associated with adenomatous and non-adenomatous (i.e., hamartomatous) polyps,the latter being quite rare. The patient's age often serves as a substantial hint to hereditary cancer. The next step of diagnostic work-up includes analysis of microsatellite instability (MSI) together with immunohistochemical detection of a loss of expression in one of the most frequently affected mismatch repair genes (MSH2, MSH6; MLH1, PMS2). Finally, the molecular demonstration of a gene mutation in the blood or germline is the most expensive and tedious procedure. This requires a signed informed consent from the patient after appropriate genetic counseling.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MICROSATELLITE INSTABILITY; MISMATCH REPAIR; GERMLINE MUTATIONS; COLON-CANCER; TUMORS; POLYPOSIS; MSH2; IMMUNOHISTOCHEMISTRY; IDENTIFICATION; EXPERIENCE; hereditary colorectal cancer syndromes; polyposis and non-polyposis syndromes; HNPCC; diagnostic histopathology; molecular pathology |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Petra Gürster |
| Date Deposited: | 18 Jan 2022 10:31 |
| Last Modified: | 18 Jan 2022 10:31 |
| URI: | https://pred.uni-regensburg.de/id/eprint/37718 |
Actions (login required)
 |
View Item |
