• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

分类 MMR 变异：林奇综合征命名法修订的时机。

Classifying MMR variants: time for revised nomenclature in Lynch syndrome.

机构信息

Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77230, USA.

出版信息

Clin Cancer Res. 2013 May 1;19(9):2280-2. doi: 10.1158/1078-0432.CCR-13-0392. Epub 2013 Mar 26.

DOI:10.1158/1078-0432.CCR-13-0392
PMID:23532885
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3854938/
Abstract

Inactivating germline mutations in DNA mismatch repair (MMR) genes are diagnostic for Lynch syndrome. However, the clinical significance of missense variants is uncertain. A threshold level of compromised MLH1 expression, correlating with greater protein instability and MMR functional defect, has been identified to help classify the pathogenicity of missense variants.

摘要

胚系 DNA 错配修复 (MMR) 基因突变失活可诊断林奇综合征。然而，错义变异的临床意义尚不确定。已经确定了 MLH1 表达受损的阈值水平，与更高的蛋白质不稳定性和 MMR 功能缺陷相关，以帮助分类错义变异的致病性。

相似文献

1
Classifying MMR variants: time for revised nomenclature in Lynch syndrome.分类 MMR 变异：林奇综合征命名法修订的时机。
Clin Cancer Res. 2013 May 1;19(9):2280-2. doi: 10.1158/1078-0432.CCR-13-0392. Epub 2013 Mar 26.
2
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.未分类 MLH1 变异体中的表达缺陷大小决定了林奇综合征诊断中的致病性。
Clin Cancer Res. 2013 May 1;19(9):2432-41. doi: 10.1158/1078-0432.CCR-12-3299. Epub 2013 Feb 12.
3
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.林奇综合征（遗传性非息肉病性结直肠癌）的诊断
J Natl Cancer Inst. 2007 Feb 21;99(4):291-9. doi: 10.1093/jnci/djk051.
4
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.联合微卫星不稳定性、MLH1甲基化分析及免疫组织化学用于妇科肿瘤学组GOG210子宫内膜癌林奇综合征筛查：一项NRG肿瘤学与妇科肿瘤学组研究
J Clin Oncol. 2015 Dec 20;33(36):4301-8. doi: 10.1200/JCO.2015.63.9518. Epub 2015 Nov 9.
5
Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.在一个具有MLH1表达保守性肿瘤的林奇综合征家族中共存的MLH1 p.D41H和p.N710D变异的详细特征分析。
Clin Genet. 2015 Jun;87(6):543-8. doi: 10.1111/cge.12467. Epub 2014 Sep 16.
6
Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.评估临床标准预测林奇综合征中错配修复基因突变的性能：3671 个家族的综合分析。
Int J Cancer. 2014 Jul 1;135(1):69-77. doi: 10.1002/ijc.28650. Epub 2014 Feb 20.
7
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.林奇综合征诊断中MLH1基因意义不明确的编码基因变异的功能测试策略
Carcinogenesis. 2015 Feb;36(2):202-11. doi: 10.1093/carcin/bgu239. Epub 2014 Dec 4.
8
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.疑似林奇综合征（遗传性非息肉病性结直肠癌）病例中错配修复基因缺陷的综合分子分析。
Cancer Res. 2009 Sep 1;69(17):7053-61. doi: 10.1158/0008-5472.CAN-09-0358. Epub 2009 Aug 18.
9
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).通过蛋白质多态性-错配修复多变量分析（MAPP-MMR）对MLH1/MSH2错义变异进行准确分类。
Hum Mutat. 2008 Jun;29(6):852-60. doi: 10.1002/humu.20735.
10
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.在一个大型基于人群的结直肠癌患者队列中，比较林奇综合征的通用分子筛查与修订后的贝塞斯达指南。
Gut. 2012 Jun;61(6):865-72. doi: 10.1136/gutjnl-2011-300041. Epub 2011 Aug 25.

引用本文的文献

1
Colorectal Cancer in the Adolescent and Young Adult Population.青少年和青年人群中的结直肠癌。
JCO Oncol Pract. 2020 Jan;16(1):19-27. doi: 10.1200/JOP.19.00153.
2
Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.在疑似林奇综合征家族的临床评估中鉴定外显子1-7的MSH2倒位
Fam Cancer. 2017 Jul;16(3):357-361. doi: 10.1007/s10689-016-9960-y.
3
DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics.直肠癌中的DNA错配修复缺陷：评估其对预后、新辅助治疗反应预测及临床癌症遗传学的影响
J Clin Oncol. 2016 Sep 1;34(25):3039-46. doi: 10.1200/JCO.2016.66.6826. Epub 2016 Jul 18.
4
High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer.青少年和青年结直肠癌患者中遗传性癌症综合征的高患病率。
J Clin Oncol. 2015 Nov 1;33(31):3544-9. doi: 10.1200/JCO.2015.61.4503. Epub 2015 Jul 20.

本文引用的文献

1
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.未分类 MLH1 变异体中的表达缺陷大小决定了林奇综合征诊断中的致病性。
Clin Cancer Res. 2013 May 1;19(9):2432-41. doi: 10.1158/1078-0432.CCR-12-3299. Epub 2013 Feb 12.
2
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.在一家大型学术医疗中心实施普遍的微卫星不稳定性和免疫组织化学筛选，以诊断林奇综合征。
J Clin Oncol. 2013 Apr 1;31(10):1336-40. doi: 10.1200/JCO.2012.45.1674. Epub 2013 Feb 11.
3
Risk of cancer in cases of suspected lynch syndrome without germline mutation.疑似林奇综合征而无胚系突变病例的癌症风险。
Gastroenterology. 2013 May;144(5):926-932.e1; quiz e13-4. doi: 10.1053/j.gastro.2013.01.044. Epub 2013 Jan 24.
4
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.一种基于序列生物信息学和肿瘤特征的概率的多因素似然模型，用于 MMR 基因突变分类：来自结肠癌家族登记处的报告。
Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11.
5
Comprehensive functional assessment of MLH1 variants of unknown significance.综合评估 MLH1 意义未明的变异体。
Hum Mutat. 2012 Nov;33(11):1576-88. doi: 10.1002/humu.22142. Epub 2012 Jul 12.
6
Lynch or not Lynch? Is that always a question?林奇还是不林奇？这总是一个问题吗？
Adv Cancer Res. 2012;113:121-66. doi: 10.1016/B978-0-12-394280-7.00004-X.
7
Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models.癌症基因中罕见种系序列变异的临床相关性：分类模型的演进与应用。
Curr Opin Genet Dev. 2010 Jun;20(3):315-23. doi: 10.1016/j.gde.2010.03.009. Epub 2010 Apr 22.
8
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.序列变异分类与报告：改善癌症易感性基因检测结果解读的建议
Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880.
9
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.阿姆斯特丹-I标准家族中无错配修复缺陷的癌症发病率较低：X型家族性结直肠癌
JAMA. 2005 Apr 27;293(16):1979-85. doi: 10.1001/jama.293.16.1979.
10
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.遗传性非息肉病性结直肠癌基因检测结果的解读：对临床易感性检测的影响
JAMA. 1999 Jul 21;282(3):247-53. doi: 10.1001/jama.282.3.247.