Der Gastroenterologe

, Volume 5, Issue 1, pp 16–22

Hereditäres nichtpolypöses kolorektales Karzinom

Schwerpunkt

Zusammenfassung

Das kolorektale Karzinom (KRK) stellt mit mehr als 70.000 Neuerkrankungen pro Jahr die zweithäufigste Tumorentität in Deutschland dar. In 15–25% der Fälle liegt eine positive Familienanamnese vor. Etwa 2–5% aller KRK entstehen auf dem Boden einer im engeren Sinne erblichen Krebsdisposition. Die häufigste Form des hereditären KRK ist das HNPCC-Syndrom („heriditary nonpolyposis colorectal cancer“, auch Lynch-Syndrom genannt). Das kumulative Lebenszeitrisiko für die Entwicklung von Tumoren liegt bei etwa 80%. Neben dem erhöhten Risiko für ein KRK besteht ein erhöhtes Risiko extrakolonischer Neoplasien. Durch die Aufdeckung der genetischen Grundlagen kann heute in den betroffenen Familien mit molekulargenetischen Methoden festgestellt werden, ob Angehörige die Tumordisposition geerbt haben – noch bevor sich Krankheitssymptome entwickeln. Klinisches Bild, Molekulargenetik, Diagnosekriterien, Differenzialdiagnose, Tumorrisiko, Früherkennungsmaßnahmen und Therapiebesonderheiten werden dargestellt.

Schlüsselwörter

Hereditäres kolorektales Karzinom Genetik Früherkennung Extrakolonische Neoplasien Lynch-Syndrom 

Hereditary nonpolyposis colorectal cancer

Abstract

Colorectal cancer (CRC) is the 2nd most common cancer in Germany (incident cases >70,000 persons each year). In 15–25% of all cases, a positive family history is present, and in 2–5% there is a monogenetic background. The most common form of hereditary CRC is hereditary nonpolyposis colorectal cancer (HNPCC) syndrome (also called Lynch syndrome). The cumulative lifetime risk for the development of tumours is 80%. In addition to an increased CRC risk, patients have an increased risk of developing extracolonic cancers. Through identification of the genetic background, at-risk individuals have the chance nowadays to learn their individual risk before they develop malignancies. This article reviews the clinical characteristics, genetics, diagnostic criteria, differential diagnosis, tumour risk, surveillance programmes, and distinct therapeutic aspects.

Keywords

Hereditary colorectal cancer Genetic Early diagnosis Extracolonic cancers Lynch syndrome 

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Copyright information

© Springer Medizin Verlag 2010

Authors and Affiliations

  1. 1.Zentrum für Familiären Darmkrebs, Medizinische Universitätsklinik, KnappschaftskrankenhausRuhr-Universität BochumBochumDeutschland
  2. 2.Abteilung für Gastroenterologie und Hepatologie, BG Kliniken BergmannsheilRuhr-Universität BochumBochumDeutschland

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