Molekularpathologische diagnostik beim erblichen dickdarmkarzinom: Empfehlungen und resultate aus dem verbund-projekt der Deutschen Krebshilfe "krebsvorsorge und krebsfrüherkennung bei familiärem darmkrebs"

Translated title of the contribution: 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)

J. Rüschof, B. Roggendorf, F. Brasch, M. Mathiak, D. E. Aust, J. Plaschke, W. Mueller, C. Poremba, M. Kloor, G. Keller, M. Muders, S. Blasenbreu-Vogt, P. Rümmele, A. Müller, R. Büttner

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations

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.

Translated title of the contributionMolecular pathology in hereditary colorectal cancer. Recommendations of the Collaborative German Study Group on Hereditary Colorectal Cancer funded by the German Cancer Aid (Deutsche Krebshilfe)
Original languageGerman
Pages (from-to)178-192
Number of pages15
JournalPathologe
Volume25
Issue number3
DOIs
StatePublished - May 2004
Externally publishedYes

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