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Aretz, S.; Steinke-Lange, V. und Rädle, J. (2020): Hereditäre Darmkrebssyndrome: Management und Surveillance-Strategien. In: Gastroenterologe, Bd. 15, Nr. 4: S. 259-272

Volltext auf 'Open Access LMU' nicht verfügbar.

Abstract

Colorectal cancer is the third most common cancer amongst men and women in Germany. Between 3 and 5% of all colorectal cancer cases are attributed to a well-defined inherited tumor predisposition syndrome (hereditary colorectal cancer), including Lynch syndrome (also called nonpolyposis colorectal cancer, HNPCC), familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and various hamartomatous polyposis syndromes (Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome). Germline mutations in different genes cause these syndromes which are usually associated with an autosomal dominant inheritance and an unusual individual and familial tumor history due to a significantly increased risk of colorectal and other cancers. Identification of individuals at risk and the detection of relevant mutations by appropriate genetic testing are crucial to offer affected individuals a lifelong surveillance strategy addressed to the individual cancer risk. In addition to a repetitive screening colonoscopy, this may also include other preventive interventions.

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