[Hereditary colorectal cancer].
One of the main challenges in the clinical management of familial colorectal cancer (CRC) remains the overlap of syndromes with different underlying genetic causes and the differentiated risk management of colorectal and associated malignancies. The Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC) is characterized by the development of colorectal, endometrial, gastric and other cancers and is caused by a mutation in one of the mismatch repair (MMR) genes. Microsatellite instability (MSI) and/or immunohistochemistry (IHC) are important prognostic factors and may predict the response to chemotherapy. Familial adenomatous polyposis (FAP) may be seen as a counterpart to Lynch syndrome, responsible for <1% of all CRC cases. Recently the MUTYH gene has been identified as a further polyposis gene. The associated disorder has been termed MYH-associated polyposis (MAP) and displays an autosomal recessive pattern of inheritance. For clinical management, distinguishing between Lynch syndrome, attenuated FAP and MAP is important for risk assessment, surveillance recommendations and indication for prophylactic surgery.
Klinik für Allgemein- und Viszeralchirurgie, Koloproktologie, St. Josefs-Hospital Bochum-Linden, Axstr. 35, 44879, Bochum. Gabriela.moeslein@helios-kliniken.de
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D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D003082:Colectomy; D003113:Colonoscopy; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D019317:Evidence-Based Medicine; D005820:Genetic Testing; D005838:Genotype; D010535:Laparoscopy; D010641:Phenotype; D012007:Rectum / Q000601:surgery
Hereditäres kolorektales Karzinom.