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

被引：14

作者：

Jelsig, Anne Marie ^{[1
]}

Karstensen, John Gasdal ^{[2
,3
]}

Jespersen, Niels ^{[2
]}

Ketabi, Zohreh ^{[4
,6
]}

Lautrup, Charlotte ^{[5
]}

Ronlund, Karina

Sunde, Lone ^{[5
]}

Wadt, Karin ^{[1
]}

Thorlacius-Ussing, Ole ^{[7
,8
]}

Qvist, Niels ^{[9
,10
]}

机构：

[1] Univ Copenhagen Hosp, Dept Clin Genet, Rigshosp, Copenhagen, Denmark

[2] Hvidovre Univ Hosp, Danish Polyposis Registry, Gastrounit, Hvidovre, Denmark

[3] Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark

[4] Univ Copenhagen Hosp, Dept Gynecol & Obstet, Rigshosp, Copenhagen, Denmark

[5] Aalborg Univ Hosp, Dept Clin Genet, Aalborg, Denmark

[6] Univ Hosp Southern Denmark, Vejle Hosp, Dept Clin Genet, Vejle, Denmark

[7] Aalborg Univ Hosp, Dept Gastrointestinal Surg, Aalborg, Denmark

[8] Aalborg Univ, Dept Clin Med, Aalborg, Denmark

[9] Odense Univ Hosp, Res Unit Surg, Odense, Denmark

[10] Univ Southern Denmark, Odense, Denmark

来源：

HEREDITARY CANCER IN CLINICAL PRACTICE | 2021年 / 19卷 / 01期

关键词：

Cancer; Polyposis; Genetics; Hereditary; Surveillance; Management; Guideline; EUROPEAN CONSORTIUM CARE; COLORECTAL-CANCER; GERMLINE MUTATIONS; ADENOMATOUS POLYPOSIS; GENE; POLE; DEFICIENCY; SUSCEPTIBILITY; DUPLICATION; VARIANTS;

D O I：

10.1186/s13053-021-00197-8

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：9

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