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Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.美洲遗传性胃肠道癌协作组关于对结直肠癌和/或息肉患者进行多基因panel 检测的立场声明。
Fam Cancer. 2020 Jul;19(3):223-239. doi: 10.1007/s10689-020-00170-9.
2
Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing.遗传性结直肠癌更新:提高多基因面板检测的临床实用性。
Clin Colorectal Cancer. 2018 Jun;17(2):e293-e305. doi: 10.1016/j.clcc.2018.01.001. Epub 2018 Jan 11.
3
Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.遗传性胃肠道癌和息肉病多基因检测板的开发、技术验证及临床应用
Tumori. 2019 Aug;105(4):338-352. doi: 10.1177/0300891619847085. Epub 2019 May 8.
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Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.遗传性结直肠癌综合征:美国临床肿瘤学会临床实践指南对家族性结直肠癌风险的认可:欧洲肿瘤内科学会临床实践指南。
J Clin Oncol. 2015 Jan 10;33(2):209-17. doi: 10.1200/JCO.2014.58.1322. Epub 2014 Dec 1.
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An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.遗传性结肠癌和胃肠道息肉病的最新进展
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Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.通过多基因检测panel确认林奇综合征和幼年性息肉病综合征的共现。
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Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.外显子组测序在年轻患者结直肠癌易感性诊断评估中的应用
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Surg Clin North Am. 2017 Jun;97(3):605-625. doi: 10.1016/j.suc.2017.01.009.

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Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies.林奇综合征与结直肠癌:分子遗传学与临床策略的当前观点综述
Oncol Res. 2025 Jun 26;33(7):1531-1545. doi: 10.32604/or.2025.063951. eCollection 2025.
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Review of Network Meta-Analyses on the Efficacy of Chemopreventive Agents on Colorectal Adenomas and Cancer.化学预防剂对结直肠腺瘤和癌症疗效的网状Meta分析综述
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Virchows Arch. 2025 May 13. doi: 10.1007/s00428-025-04118-1.
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Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome.RNF43 胚系致病性变异与锯齿状息肉病综合征患者和非锯齿状息肉病综合征患者。
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Comprehensive Analysis of Early-onset Colorectal Cancer: A Review.早发性结直肠癌综合分析:综述
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10
Report from the 24th Annual Western Canadian Gastrointestinal Cancer Consensus Conference on Colorectal Cancer, Richmond, British Columbia, 28-29, October 2022.第 24 届加拿大西部胃肠道癌症共识会议关于结直肠癌的年度报告,2022 年 10 月 28-29 日,不列颠哥伦比亚省里士满。
Curr Oncol. 2023 Aug 29;30(9):7964-7983. doi: 10.3390/curroncol30090579.

本文引用的文献

1
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019.NCCN 指南解读:遗传/家族性高风险评估:结直肠癌,第 2.2019 版。
J Natl Compr Canc Netw. 2019 Sep 1;17(9):1032-1041. doi: 10.6004/jnccn.2019.0044.
2
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome.与林奇综合征相比,具有双重体细胞错配修复突变的结直肠癌患者的临床特征。
J Med Genet. 2019 Jul;56(7):462-470. doi: 10.1136/jmedgenet-2018-105698. Epub 2019 Mar 15.
3
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.突变特征分析揭示 NTHL1 缺陷导致多肿瘤表型。
Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.
4
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.多基因panel 检测证实 MUTYH 相关息肉病的表型变异性。
Fam Cancer. 2019 Apr;18(2):203-209. doi: 10.1007/s10689-018-00116-2.
5
Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-Associated Genes in Patients With Multiple Colorectal Polyps.多发性结直肠息肉患者中结直肠癌相关基因胚系突变的流行率。
Clin Gastroenterol Hepatol. 2019 Sep;17(10):2008-2015.e3. doi: 10.1016/j.cgh.2018.12.008. Epub 2018 Dec 14.
6
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.对于患有李-弗劳梅尼综合征的患者,可能有必要进行早期结直肠癌筛查。
Gastroenterology. 2019 Jan;156(1):273-274. doi: 10.1053/j.gastro.2018.09.036. Epub 2018 Sep 19.
7
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.遗传性癌症易感基因种系突变与胰腺癌风险的关联。
JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.
8
Inherited DNA-Repair Defects in Colorectal Cancer.遗传性结直肠癌的 DNA 修复缺陷。
Am J Hum Genet. 2018 Mar 1;102(3):401-414. doi: 10.1016/j.ajhg.2018.01.018. Epub 2018 Feb 22.
9
Commentary: PREMM5 threshold of 2.5% is recommended to improve identification of PMS2 carriers.评论:建议采用2.5%的PREMM5阈值来改善对PMS2携带者的识别。
Fam Cancer. 2018 Oct;17(4):567. doi: 10.1007/s10689-018-0074-6.
10
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017.NCCN 指南解读:遗传/家族性高风险评估:结直肠癌,第 3.2017 版。
J Natl Compr Canc Netw. 2017 Dec;15(12):1465-1475. doi: 10.6004/jnccn.2017.0176.

美洲遗传性胃肠道癌协作组关于对结直肠癌和/或息肉患者进行多基因panel 检测的立场声明。

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.

机构信息

Sanford R Weiss, MD, Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA.

Division of Human Genetics, Department of Internal Medicine and the Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.

出版信息

Fam Cancer. 2020 Jul;19(3):223-239. doi: 10.1007/s10689-020-00170-9.

DOI:10.1007/s10689-020-00170-9
PMID:32172433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7326311/
Abstract

Multigene panel tests for hereditary cancer syndromes are increasingly utilized in the care of colorectal cancer (CRC) and polyposis patients. However, widespread availability of panels raises a number of questions including which patients should undergo testing, which genes should be included on panels, and the settings in which panels should be ordered and interpreted. To address this knowledge gap, key questions regarding the major issues encountered in clinical evaluation of hereditary CRC and polyposis were designed by the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position Statement Committee and leadership. A literature search was conducted to address these questions. Recommendations were based on the best available evidence and expert opinion. This position statement addresses which genes should be included on a multigene panel for a patient with a suspected hereditary CRC or polyposis syndrome, proposes updated genetic testing criteria, discusses testing approaches for patients with mismatch repair proficient or deficient CRC, and outlines the essential elements for ordering and disclosing multigene panel test results. We acknowledge that critical gaps in access, insurance coverage, resources, and education remain barriers to high-quality, equitable care for individuals and their families at increased risk of hereditary CRC.

摘要

多基因面板检测用于遗传性癌症综合征在结直肠癌(CRC)和息肉病患者的治疗中越来越普及。然而,面板的广泛应用引发了许多问题,包括哪些患者应接受检测、面板应包含哪些基因,以及应在何种情况下订购和解释面板。为了弥补这一知识空白,由美洲遗传性胃肠道癌症共识声明委员会的协作组和领导层设计了有关遗传性 CRC 和息肉病临床评估中遇到的主要问题的关键问题。进行了文献检索以解决这些问题。建议基于最佳现有证据和专家意见。本立场声明针对疑似遗传性 CRC 或息肉病综合征患者的多基因面板应包含哪些基因,提出了更新的基因检测标准,讨论了错配修复功能正常或缺失的 CRC 患者的检测方法,并概述了订购和披露多基因面板检测结果的基本要素。我们承认,在获得、保险覆盖、资源和教育方面仍然存在重大差距,这是增加 CRC 遗传风险的个人及其家庭获得高质量、公平医疗的障碍。