coloproctology

, Volume 34, Issue 6, pp 410–416

Hereditäres kolorektales Karzinom

Effiziente Primärprävention
Übersichten
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Zusammenfassung

Genetisch definierte hereditäre kolorektale Karzinome (KRK) betreffen häufig junge Patienten sowie ihre Familien und machen etwa 3–5% aller KRK aus. Frühzeitiges Erkennen und klinisches Management determinieren die Prognose und liegen in der Verantwortung des Klinikers. Während die klassische familiäre adenomatöse Polypose (FAP) durch auffällige phänotypische Stigmata charakterisiert ist, zeigen sich für das Lynch-Syndrom, die attenuierte FAP (aFAP) und die MUTYH-assoziierte adenomatöse Polypose (MAP) phänotypische Überlappungen, die klinisch eine eindeutige Zuordnung erschweren. Der vorliegende Beitrag beleuchtet klinische Manifestationen, aktuelle Vorsorgekonzepte und präventive operative Strategien bei Patienten mit hereditären Tumorprädispositionssyndromen und ihren Familien.

Schlüsselwörter

Hereditäres kolorektales Karzinom Familiäre adenomatöse Polyposis coli Lynch-Syndrom Mikrosatelliteninstabilität DNA-Mutationsanalyse 

Hereditary colorectal cancer

Effective primary prevention

Abstract

Genetically defined hereditary colorectal cancer affects mostly young patients and their families and accounts for approximately 3–5% of all colorectal cancers. Early detection and clinical management determine the prognosis and are the responsibility of clinicians. While the classical variant of familial adenomatous polyposis (FAP) is characterized by a distinct phenotype, Lynch syndrome, attenuated FAP (aFAP) and MUTYH-associated adenomatous polyposis (MAP) show phenotypic overlaps which render unequivocal classification difficult. The present article elucidates the clinical manifestations, current surveillance concepts and preventive operative strategies in patients with hereditary tumor predisposition syndromes and their families.

Keywords

Hereditary colorectal cancer Familial adenomatous polyposis coli Lynch syndrome Microsatellite instability DNA mutational analysis 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  1. 1.Allgemein-, Viszeral- und TransplantationschirurgieChirurgische Universitätsklinik HeidelbergHeidelbergDeutschland
  2. 2.Abteilung Angewandte Tumorbiologie, Pathologisches InstitutUniversität HeidelbergHeidelbergDeutschland

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