Anne Marie Jelsig, Niels Jespersen, John Gásdal Karstensen, Zohreh Ketabi, Karina Rønlund, Lone Sunde, Ole Thorlacius-Ussing, Karin Wadt, Niels Qvist & Charlotte Kvist Lautrup
Ugeskr Læger 2021;183:V02210148
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.