中国人群结直肠息肉综合征研究进展。

IF 1.2 4区 医学 Q4 GASTROENTEROLOGY & HEPATOLOGY
Clinics in Colon and Rectal Surgery Pub Date : 2023-04-09 eCollection Date: 2023-11-01 DOI:10.1055/s-0043-1767708
Zhijun Yuan, Mengyuan Yang, Ying Yuan
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引用次数: 0

摘要

遗传性肿瘤综合征的发病机制、临床表型、治疗策略和家族管理与散发性肿瘤不同。近四分之一的癌症患者表现出显著的家族聚集性和遗传易感性,5%至10%与明确的遗传因素有关。根据临床表型可分为非息肉病综合征和息肉病综合症。在临床症状明确的息肉病综合征患者中,仍有一些病因不明的患者(尤其是减毒的家族性腺瘤性息肉病),是临床诊断和治疗的难题。因此,对于这种罕见病,迫切需要开展多中心研究,完善基因变异谱,探索新的致病因素,积累临床经验。本文主要介绍我国结直肠息肉病综合征的研究进展及相关工作。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Progress of Colorectal Polyposis Syndrome in Chinese Population.

The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a quarter of patients with colorectal cancer show significant familial aggregation and genetic predisposition, and 5 to 10% are associated with definite genetic factors. According to the clinical phenotype, it can be divided into nonpolyposis syndrome and polyposis syndrome. Among the polyposis syndrome patients with definite clinical symptoms, there are still some patients with unknown etiology (especially attenuated familial adenomatous polyposis), which is a difficult problem in clinical diagnosis and treatment. Therefore, for this rare disease, it is urgent to carry out multicenter studies, complete the gene variation spectrum, explore new pathogenic factors, and accumulate clinical experience. This article mainly introduces the research progress and related work of colorectal polyposis syndrome in China.

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来源期刊
Clinics in Colon and Rectal Surgery
Clinics in Colon and Rectal Surgery GASTROENTEROLOGY & HEPATOLOGYSURGERY-SURGERY
CiteScore
2.60
自引率
7.10%
发文量
84
期刊介绍: Clinics in Colon and Rectal Surgery is a review journal that publishes topic-specific issues on diseases of the small bowel, colon, rectum, and anus. Designed for clinicians, researchers, and educators involved with diseases of the intestinal tract, the journal covers a broad spectrum of basic information, controversial clinical issues, and established and innovative diagnostic techniques. Issue topics comprehensively cover the entire specialty over a 3-4 year period, allowing the articles to serve as study material for educational programs and certifying examinations. The inclusion of research and clinical material also allows physicians to remain knowledgeable of current advances in the specialty.
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