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DOI: 10.1055/s-0028-1082788
© Georg Thieme Verlag KG Stuttgart · New York
Hereditäre nicht-polypöse kolorektale Karzinome
Aktueller Stand Hereditary nonpolyposis colorectal carcinoma: state of the artPublication History
eingereicht: 16.10.2007
akzeptiert: 31.3.2008
Publication Date:
06 August 2008 (online)

Zusammenfassung
Etwa 20 – 25 % aller kolorektalen Karzinome treten familiär gehäuft auf. Bei 4 – 5 % ist die Familienanamnese positiv mit autosomal dominanter Vererbung. Erbliche kolorektale Karzinome sind grundsätzlich in adenomatöse, und die seltenen hyperplastischen, hamartomatösen bzw. juvenilen polypösen Erkrankungen zu differenzieren.
Familien mit hereditären nicht-polypösen kolorektalen Karzinomen (HNPCC; hereditary non-polyposis colorectal cancer) umfassen zwei Tumorentitäten. Zum einen Tumore mit Mikrosatelliteninstabilität und Keimbahnmutation in einem der DNA-Reparaturgene (MSI, Lynch-Syndrom) und zum anderen Tumore ohne Mikrosatelliteninstabilität (MSS). Familien mit Lynch-Syndrom weisen gegenüber Familien mit MSS-Tumoren zusätzliche assoziierte Tumorerkrankungen, ein früheres Erkrankungsalter und ein höheres Risiko für syn- und metachrone Zweitneoplasien auf.
Summary
Familial clusternig is found in 20–25% of all cases with colorectal cancer (CRC), 4–5% revealing autosomal dominant inheritance. Hereditary CRC develops from adenomatous, hyperplastic hamartomatous juvenile lesions. Hereditory nonpolyposis colorectal cancer includes two genetically different tumor entities, those with and without microsatellite instability in the corresponding tumors. Those with such instability and with germ-line mutation in DNA mismatch repair genes (Lynch syndrome) have additional neoplasms, an earlier age at onset and a higher risk for syn- and metachronous cancers.
Schlüsselwörter
erbliche kolorektale Karzinome - HNPCC - FAP - Polyposis
Key words
hereditary colorectal cancer - HNPCC - FAP - polyposis
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PD Dr. med. Dipl. chem. Elke Holinski-Feder
Medizinisch Genetisches Zentrum
München
Bayerstr. 3 – 5
80335 München