期刊论文详细信息
Hereditary Cancer in Clinical Practice
Danish guidelines for management of non-APC-associated hereditary polyposis syndromes
Niels Jespersen1  John Gásdal Karstensen1  Charlotte Lautrup2  Lone Sunde2  Anne Marie Jelsig3  Karin Wadt3  Karina Rønlund4  Ole Thorlacius-Ussing5  Zohreh Ketabi6  Niels Qvist7 
[1] Danish Polyposis Registry, Gastrounit, Hvidovre Hospital;Department of Clinical Genetics, Aalborg University Hospital;Department of Clinical Genetics, University Hospital of Copenhagen;Department of Clinical Genetics, University Hospital of Southern Denmark, Vejle Hospital;Department of Gastrointestinal Surgery, Aalborg University Hospital;Department of Gynecology and Obstetrics, University Hospital of Copenhagen;Research Unit for Surgery, Odense University Hospital;
关键词: Cancer;    Polyposis;    Genetics;    Hereditary;    Surveillance;    Management;   
DOI  :  10.1186/s13053-021-00197-8
来源: DOAJ
【 摘 要 】

Abstract 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.

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