Zusammenfassung
Das kolorektale Karzinom (KRK) stellt mit etwa 70.000 Neuerkrankungen pro Jahr die zweithäufigste Tumorentität in Deutschland dar. In 20–30% 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 (Lynch-Syndrom). Seltener ist die familiäre adenomatöse Polyposis (FAP). Sehr selten sind hamartomatöse Polyposis-Syndrome (Peutz-Jeghers-Syndrom und familiäre juvenile Polyposis). Die autosomal-rezessiv erbliche multiple adenomatöse Polyposis kommt als Differenzialdiagnose zum Lynch-Syndrom und der attenuierten FAP in Betracht. Neben erhöhten Risiken für KRK besteht bei fast allen Formen ein erhöhtes Risiko extrakolonischer Neoplasien. Durch die Aufdeckung der genetischen Grundlagen erblicher KRK-Formen kann heute in den betroffenen Familien mit molekulargenetischen Methoden festgestellt werden, ob Angehörige die Tumordisposition geerbt haben noch bevor sich Krankheitssymptome entwickeln.
Abstract
Colorectal cancer (CRC) is the 2nd most common cancer in Germany (incidence 70,000 individuals each year). In 20–30% of all cases, a positive familial 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), also called Lynch syndrome. Less frequent are familial adenomatous polyposis coli (FAP) and the hamartomatous polyposis syndromes (Peutz–Jeghers syndrome and juvenile polyposis syndrome). Multiple colorectal adenoma syndrome (MAP) is inherited in an autosomal recessive manner and is an important differential diagnosis for Lynch syndrome and attenuated FAP. In all of these syndromes, individuals have a higher risk of developing CRC as well as a broad spectrum of malignancies outside the colorectum. With the identification of genetic background associated with hereditary CRC, at-risk persons now have the chance to know their individual risk before they develop malignancies.
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Schulmann, K., Stemmler, S. Hereditäres Kolonkarzinom. Gastroenterologe 3, 112–118 (2008). https://doi.org/10.1007/s11377-008-0175-0
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DOI: https://doi.org/10.1007/s11377-008-0175-0