Hereditäre Darmkrebssyndrome: Diagnostik und Management

Aretz, Stefan; Steinke-Lange, Verena; Vilz, Tim O. und Rädle, Jochen (2020): Hereditäre Darmkrebssyndrome: Diagnostik und Management. In: Onkologe, Bd. 27, Nr. 3: S. 203-218

Abstract

Background: Colorectal cancer (CRC) is the third most common cancer among men and women in Germany. Between 3 and 5% of all CRC cases are attributed to a well-defined inherited tumor predisposition syndrome (hereditary CRC). Materials and methods: A summary of a selective literature search and our own work concerning hereditary CRC and gastrointestinal polyposis syndromes is provided. Results: Hereditary CRC includes Lynch syndrome/hereditary nonpolyposis colon cancer (HNPCC), familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and various hamartomatous polyposis syndromes (Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome). These syndromes are caused by various germline mutations, which are often associated with an autosomal dominant inheritance and an unusual individual and/or familial tumor history due to a significantly increased risk of colorectal and other cancers. The etiology of the serrated polyposis syndrome (SPS) is largely unknown so far. Conclusions: 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. For some hereditary syndromes, prophylactic surgery is a very efficient option to reduce the tumor risk.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0947-8965
• Sprache: Deutsch