Nye arvelige polyposesyndromer som differentialdiagnose hos patienten med tarmpolypper
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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.
Bidragets oversatte titel | New hereditary polyposis syndromes in the patient with intestinal polyps |
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Originalsprog | Dansk |
Artikelnummer | :V02210148 |
Tidsskrift | Ugeskrift for Laeger |
Vol/bind | 183 |
Udgave nummer | 38 |
Antal sider | 8 |
ISSN | 0041-5782 |
Status | Udgivet - 20 sep. 2021 |
- Colorectal Neoplasms, Genetic Testing, Humans, Intestinal Polyposis/diagnosis, Intestinal Polyps, Nasopharyngeal Neoplasms, Neoplastic Syndromes, Hereditary/diagnosis
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- https://content.ugeskriftet.dk/sites/default/files/scientific_article_files/2022-03/v02210148_web.pdf
Forlagets udgivne version
ID: 305685106