학술논문
[New hereditary polyposis syndromes in the patient with intestinal polyps].
Document Type
Academic Journal
Author
Jelsig AM; Anne.marie.jelsig@regionh.dk.; Jespersen N; Karstensen JG; Ketabi Z; Rønlund K; Sunde L; Thorlacius-Ussing O; Wadt K; Qvist N; Lautrup CK
Source
Publisher: Den Alm Danske Laegerforening Country of Publication: Denmark NLM ID: 0141730 Publication Model: Print Cited Medium: Internet ISSN: 1603-6824 (Electronic) Linking ISSN: 00415782 NLM ISO Abbreviation: Ugeskr Laeger Subsets: MEDLINE
Subject
Language
Danish
Abstract
Hereditary polyposis syndromes (HPS) are a group of rare, inherited syndromes characterised by the presence of histopathological specific or numerous intestinal polyps and a high risk of intestinal and extraintestinal cancer. During the last decade, several new HPS have been discovered, as it is possible to detect pathogenic germline variants in genes not previously known to be associated with polyposis. This review summarises the current knowledge on the syndromes and discusses genetic testing as part of the diagnostic pipeline when suspecting a polyposis syndrome.