丹麦非apc相关遗传性息肉病综合征管理指南。

IF 2 4区 医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2021-10-07 DOI:10.1186/s13053-021-00197-8
Anne Marie Jelsig, John Gásdal Karstensen, Niels Jespersen, Zohreh Ketabi, Charlotte Lautrup, Karina Rønlund, Lone Sunde, Karin Wadt, Ole Thorlacius-Ussing, Niels Qvist
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引用次数: 9

摘要

遗传性息肉病综合征是一组罕见的遗传性综合征,其特征是存在组织病理学特异性或大量肠息肉,并增加患癌症的风险。一些息肉病综合征已经知道了几十年,但遗传技术的发展已经允许识别新的综合征。诊断需要早期监测,但缺乏关于如何管理和监测这些新综合征的普遍指南。本文是丹麦医学遗传学学会和丹麦外科学会任命的工作组关于遗传性息肉病综合征(包括罕见息肉病综合征)患者监测建议的最新指南(2020年)的浓缩版。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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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 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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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
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