• 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

MSH6 syndrome.

作者信息

Suchy Janina, Lubinski Jan

机构信息

International Hereditary Cancer Centre, Department of Genetics and Pathology, Szczecin, Poland.

出版信息

Hered Cancer Clin Pract. 2008 Jun 15;6(2):103-4. doi: 10.1186/1897-4287-6-2-103.

DOI:10.1186/1897-4287-6-2-103
PMID:19804606
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2735474/
Abstract
摘要

相似文献

1
MSH6 syndrome.MSH6综合征。
Hered Cancer Clin Pract. 2008 Jun 15;6(2):103-4. doi: 10.1186/1897-4287-6-2-103.
2
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.MSH6和PMS2突变阳性的澳大利亚林奇综合征家族：新突变、癌症风险及结直肠癌诊断年龄
Hered Cancer Clin Pract. 2010 May 21;8(1):5. doi: 10.1186/1897-4287-8-5.
3
Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.两个瑞典人携带的MSH6基因创始人突变，一个为无义突变，一个为错义突变，会导致林奇综合征的高累积风险。
Clin Genet. 2005 Dec;68(6):533-41. doi: 10.1111/j.1399-0004.2005.00537.x.
4
Role of microsatellite instability-low as a diagnostic biomarker of Lynch syndrome in colorectal cancer.微卫星不稳定性低在结直肠癌林奇综合征诊断生物标志物中的作用。
Cancer Genet. 2014 Oct-Dec;207(10-12):495-502. doi: 10.1016/j.cancergen.2014.10.002. Epub 2014 Oct 13.
5
[A Family Affected by Lynch Syndrome Caused by MSH6 Germline Mutation].[一个受MSH6基因种系突变引起的林奇综合征影响的家族]
Gan To Kagaku Ryoho. 2015 Nov;42(12):2211-4.
6
A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.在诊断环境中接受检测的符合阿姆斯特丹标准II阴性的家族中，MSH6突变的发生率很高。
Gut. 2008 Nov;57(11):1539-44. doi: 10.1136/gut.2008.156695. Epub 2008 Jul 14.
7
Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.与疑似遗传性非息肉病性结直肠癌综合征家系相关的MSH6突变的功能分析。
Hum Mol Genet. 2002 May 15;11(11):1303-10. doi: 10.1093/hmg/11.11.1303.
8
Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.在结直肠癌患者中检测到的 MSH6 种系变异的分子和临床特征。
Oncol Rep. 2013 Dec;30(6):2909-16. doi: 10.3892/or.2013.2781. Epub 2013 Oct 2.
9
Association of rare MSH6 variants with familial breast cancer.MSH6 罕见变异与家族性乳腺癌的关联。
Breast Cancer Res Treat. 2010 Sep;123(2):315-20. doi: 10.1007/s10549-009-0634-4. Epub 2009 Nov 19.
10
Neoadjuvant therapy in microsatellite-stable colorectal carcinoma induces concomitant loss of MSH6 and Ki-67 expression.微卫星稳定型结直肠癌的新辅助治疗可导致MSH6和Ki-67表达同时缺失。
Hum Pathol. 2017 May;63:33-39. doi: 10.1016/j.humpath.2017.02.003. Epub 2017 Feb 21.

本文引用的文献

1
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC.一系列临床怀疑患有遗传性非息肉病性结直肠癌（HNPCC）的连续家族中，体质性MSH6突变的频率。
Clin Genet. 2007 Sep;72(3):230-7. doi: 10.1111/j.1399-0004.2007.00856.x.
2
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.
3
Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers.波兰结直肠癌、子宫内膜癌和卵巢癌患者中hMSH6种系突变的频率及性质
Clin Genet. 2006 Jul;70(1):68-70. doi: 10.1111/j.1399-0004.2006.00630.x.
4
The genetics of HNPCC: application to diagnosis and screening.遗传性非息肉病性结直肠癌的遗传学：在诊断和筛查中的应用。
Crit Rev Oncol Hematol. 2006 Jun;58(3):208-20. doi: 10.1016/j.critrevonc.2005.11.001. Epub 2006 Jan 23.
5
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.与携带MLH1或MSH2突变的家族相比，27个携带致病性MSH6种系突变的家族中结直肠癌发病率较低且发病年龄较晚：德国遗传性非息肉病性结直肠癌联盟
J Clin Oncol. 2004 Nov 15;22(22):4486-94. doi: 10.1200/JCO.2004.02.033. Epub 2004 Oct 13.
6
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.MSH6 突变导致的遗传性非息肉病性结直肠癌的癌症风险：对咨询和监测的影响。
Gastroenterology. 2004 Jul;127(1):17-25. doi: 10.1053/j.gastro.2004.03.068.
7
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.通过肿瘤组织中蛋白质表达缺失筛选出的家族性和非家族性结直肠癌患者中的八个新的MSH6种系突变。
Hum Mutat. 2004 Mar;23(3):285. doi: 10.1002/humu.9217.
8
Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.结直肠癌和子宫内膜双原发性癌患者中MLH1、MSH2和MSH6基因的突变分析：瑞典北部一项基于人群的研究
Int J Cancer. 2004 Apr 10;109(3):370-6. doi: 10.1002/ijc.11718.
9
DNA repair.DNA修复
J Cell Sci. 2004 Feb 1;117(Pt 4):515-7. doi: 10.1242/jcs.00952.
10
Escherichia coli as a model system to study DNA repair genes of eukaryotic organisms.
Genet Mol Res. 2003 Mar 31;2(1):77-91.