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结直肠息肉病和遗传性结直肠癌综合征

Colorectal polyposis and inherited colorectal cancer syndromes.

作者信息

Byrne Raphael M, Tsikitis Vassiliki Liana

机构信息

Department of Surgery, Division of GI and General Surgery, Oregon Health & Science University, Portland, OR, USA.

出版信息

Ann Gastroenterol. 2018 Jan-Feb;31(1):24-34. doi: 10.20524/aog.2017.0218. Epub 2017 Nov 27.

DOI:10.20524/aog.2017.0218
PMID:29333064
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5759610/
Abstract

The majority of colorectal cancer (CRC) cases are sporadic, with hereditary factors contributing to approximately 35% of CRC cases. Less than 5% of CRC is associated with a known genetic syndrome. Although adenomatous polyposis syndromes, hamartomatous polyposis syndromes, and those previously classified as non-polyposis CRC syndromes are quite rare, it is important for clinicians to know the characteristics of each syndrome and to understand the differences in cancer risks between the different conditions. This information is very important when treatment and surveillance plans are formulated for each individual patient.

摘要

大多数结直肠癌(CRC)病例是散发性的,遗传因素导致约35%的CRC病例。不到5%的CRC与已知的遗传综合征相关。尽管腺瘤性息肉病综合征、错构瘤性息肉病综合征以及那些以前归类为非息肉病性CRC综合征的情况相当罕见,但临床医生了解每种综合征的特征并理解不同情况之间癌症风险的差异很重要。在为每个患者制定治疗和监测计划时,这些信息非常重要。

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本文引用的文献

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Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.儿童遗传性胃肠道癌症综合征的癌症筛查建议和临床管理。
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Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome.林奇综合征患者外科治疗临床实践指南
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Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome.林奇综合征女性子宫内膜癌后结直肠癌和其他癌症的风险。
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Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers.错配修复基因突变携带者行直肠癌手术后发生异时性结肠癌的风险。
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Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas.多发性结直肠腺瘤患者 APC 和 MUTYH 突变的流行率和表型。
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