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Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

Hereditary Polyposis Syndromes are a group of rare, inherited syndromes characterized by the presence of histopathologically specific or numerous intestinal polyps and an increased risk of cancer. Some polyposis syndromes have been known for decades, but the development in genetic technologies has a...

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Published in:Hereditary cancer in clinical practice 2021-10, Vol.19 (1), p.1-41, Article 41
Main Authors: Jelsig, Anne Marie, Karstensen, John Gásdal, Jespersen, Niels, Ketabi, Zohreh, Lautrup, Charlotte, Ranlund, Karina, Sunde, Lone, Wadt, Karin, Thorlacius-Ussing, Ole, Qvist, Niels
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Language:English
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Summary:Hereditary Polyposis Syndromes are a group of rare, inherited syndromes characterized by the presence of histopathologically specific or numerous intestinal polyps and an increased risk of cancer. Some polyposis syndromes have been known for decades, but the development in genetic technologies has allowed the identification of new syndromes.. The diagnosis entails surveillance from an early age, but universal guideline on how to manage and surveille these new syndromes are lacking. This paper represents a condensed version of the recent guideline (2020) from a working group appointed by the Danish Society of Medical Genetics and the Danish Society of Surgery on recommendations for the surveillance of patients with hereditary polyposis syndromes, including rare polyposis syndromes.
ISSN:1897-4287
1731-2302
1897-4287
DOI:10.1186/s13053-021-00197-8