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香港的遗传性结直肠癌综合征：登记处的视角

Hereditary Colorectal Cancer Syndromes in Hong Kong: a Registry's Perspective.

作者信息

Ho Judy Wc, Wei Rockson, Chan Emily Ms

机构信息

Department of Surgery, The University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong.

出版信息

Hered Cancer Clin Pract. 2005 Oct 15;3(4):147-54. doi: 10.1186/1897-4287-3-4-147.

DOI:10.1186/1897-4287-3-4-147
PMID:20223041
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2837057/
Abstract

Established in 1995, the Hereditary Gastrointestinal Cancer Registry aimed at cancer prevention due to hereditary colorectal cancer syndromes in Hong Kong through early detection, timely treatment, education and ongoing research. This article details the history, structure and work of the Registry. A summary is also provided on the results of various research work conducted by the Registry which facilitates the clinical management of hereditary colorectal cancer syndromes in Hong Kong Chinese families.

摘要

遗传性胃肠道癌症登记处成立于1995年，旨在通过早期检测、及时治疗、教育和持续研究来预防香港因遗传性结直肠癌综合征引发的癌症。本文详细介绍了该登记处的历史、结构和工作。还总结了登记处开展的各项研究工作的结果，这些结果有助于对香港华人家族遗传性结直肠癌综合征进行临床管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf0/2837057/cca450678c2a/1897-4287-3-4-147-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf0/2837057/cca450678c2a/1897-4287-3-4-147-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf0/2837057/cca450678c2a/1897-4287-3-4-147-1.jpg

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本文引用的文献

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Hereditary colorectal cancer-part II.遗传性结直肠癌 - 第二部分。
Curr Probl Surg. 2005 May;42(5):267-333. doi: 10.1067/j.cpsurg.2005.02.003.
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MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.MSH2基因c.1452-1455delAATG是一个始祖突变，也是中国南方人群遗传性非息肉病性结直肠癌的一个重要病因。
Am J Hum Genet. 2004 May;74(5):1035-42. doi: 10.1086/383591. Epub 2004 Mar 23.
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香港华裔成年人对遗传性结肠癌基因检测结果的决策考量
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Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.结直肠癌和HNPCC相关癌症中错配修复缺陷背后的种系、体细胞和表观遗传事件。
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Phenotype and management of patients with familial adenomatous polyposis in Hong Kong: perspective of the Hereditary Gastrointestinal Cancer Registry.香港家族性腺瘤性息肉病患者的表型与管理：遗传性胃肠道癌症登记处的观点
Hong Kong Med J. 2002 Oct;8(5):342-7.
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Distinct clinical features associated with microsatellite instability in colorectal cancers of young patients.年轻患者结直肠癌中与微卫星不稳定性相关的独特临床特征。
Int J Cancer. 2000 Jul 20;89(4):356-60. doi: 10.1002/1097-0215(20000720)89:4<356::aid-ijc7>3.0.co;2-j.
8
The role of sulindac in familial adenomatous polyposis patients with ileal pouch polyposis.舒林酸在患有回肠储袋息肉病的家族性腺瘤性息肉病患者中的作用。
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Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.中国年轻结直肠癌患者中频繁出现的微卫星不稳定性和错配修复基因突变
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Br J Cancer. 1997;76(12):1610-6. doi: 10.1038/bjc.1997.605.