• 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

一例在BRCA2突变及林奇综合征双重杂合性背景下的子宫内膜癌病例。

A case of endometrial cancer in the context of a BRCA2 mutation and double heterozygosity for Lynch syndrome.

作者信息

Gong Ping, Charles Sarah, Rosenblum Norman, Wang Zoe, Witkiewicz Agnieszka K

机构信息

Department of Pathology, Thomas Jefferson University Hospital, Philadelphia, PA, United States.

Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, United States.

出版信息

Gynecol Oncol Case Rep. 2012 Mar 15;2(3):69-72. doi: 10.1016/j.gynor.2012.03.001. eCollection 2012.

DOI:10.1016/j.gynor.2012.03.001
PMID:24371622
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3860713/
Abstract

► Endometrial cancer with BRCA2 mutation and double heterozygosity for Lynch syndrome. ► Loss of MLH1 and PMS2 by immunohistochemical stain. ► MSH1 and MSH6 gene mutations by genomic sequencing.

摘要

► 伴有BRCA2突变及林奇综合征双杂合性的子宫内膜癌。

► 通过免疫组化染色检测MLH1和PMS2缺失。

► 通过基因组测序检测MSH1和MSH6基因突变。

相似文献

1
A case of endometrial cancer in the context of a BRCA2 mutation and double heterozygosity for Lynch syndrome.一例在BRCA2突变及林奇综合征双重杂合性背景下的子宫内膜癌病例。
Gynecol Oncol Case Rep. 2012 Mar 15;2(3):69-72. doi: 10.1016/j.gynor.2012.03.001. eCollection 2012.
2
Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.林奇综合征在子宫内膜癌中的普遍筛查：种系突变的频率及林奇样综合征患者的鉴定。
Hum Pathol. 2017 Dec;70:121-128. doi: 10.1016/j.humpath.2017.10.022. Epub 2017 Oct 28.
3
[Genetic analysis of 45 patients with suspected Lynch syndrome using next-generation sequencing].[利用二代测序技术对45例疑似林奇综合征患者进行基因分析]
Zhonghua Zhong Liu Za Zhi. 2021 Aug 23;43(8):843-849. doi: 10.3760/cma.j.cn112152-20190717-00441.
4
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review.林奇综合征相关子宫内膜癌伴 MLH1 胚系突变和 MLH1 启动子高甲基化：病例报告及文献复习。
BMC Cancer. 2018 May 21;18(1):576. doi: 10.1186/s12885-018-4489-0.
5
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.子宫内膜癌患者中林奇综合征（遗传性非息肉病性结直肠癌）的筛查。
Cancer Res. 2006 Aug 1;66(15):7810-7. doi: 10.1158/0008-5472.CAN-06-1114.
6
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.
7
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.错配修复蛋白阳性截断 MLH1 突变与 PMS2 缺失：对免疫组化指导的林奇综合征遗传检测的影响。
Fam Cancer. 2009;8(4):501-4. doi: 10.1007/s10689-009-9276-2. Epub 2009 Aug 12.
8
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.瑞典林奇综合征人群中的错配修复基因突变谱。
Oncol Rep. 2016 Nov;36(5):2823-2835. doi: 10.3892/or.2016.5060. Epub 2016 Sep 1.
9
Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.斯洛文尼亚结直肠癌患者种系 MLH1、MSH2、MSH6 和 PMS2 基因突变的筛查：对林奇综合征人群特异性检测策略的影响。
Fam Cancer. 2009;8(4):421-9. doi: 10.1007/s10689-009-9258-4. Epub 2009 Jun 13.
10
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.在林奇综合征患者中，结直肠癌和子宫内膜癌患者若显示PMS2免疫组化表达单独缺失，则常可检测到胚系MLH1突变。
Am J Surg Pathol. 2015 Aug;39(8):1114-20. doi: 10.1097/PAS.0000000000000425.

引用本文的文献

1
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.林奇综合征患者中不同遗传性癌症综合征种系致病性变异的共同发生。
Cancer Commun (Lond). 2021 Mar;41(3):218-228. doi: 10.1002/cac2.12134. Epub 2021 Feb 25.
2
Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.TP53 和 BRCA1 突变的双重杂合性：在有启动子突变的人群中的临床意义。
Breast Cancer Res Treat. 2021 Feb;186(1):259-263. doi: 10.1007/s10549-020-06084-5. Epub 2021 Jan 15.
3
Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.由于MSH3和MSH6中的杂合种系缺陷导致MSH2和MSH6缺失。
Fam Cancer. 2017 Oct;16(4):491-500. doi: 10.1007/s10689-017-9975-z.
4
An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report.通过多基因遗传性癌症检测板检测鉴定出同时患有MUTYH相关息肉病和林奇综合征的个体：一例报告
Front Genet. 2016 Mar 16;7:36. doi: 10.3389/fgene.2016.00036. eCollection 2016.
5
Letter to the editor: mistaken inheritance.致编辑的信：错误的遗传
Int J Colorectal Dis. 2016 Mar;31(3):711-2. doi: 10.1007/s00384-015-2204-z. Epub 2015 Apr 7.

本文引用的文献

1
A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) Families.预防性手术与妇科监测对遗传性非息肉病性结直肠癌（HNPCC）家族女性的成本效益分析。
Fam Cancer. 2011 Sep;10(3):535-43. doi: 10.1007/s10689-011-9444-z.
2
Microsatellite instability in colorectal cancer: from molecular oncogenic mechanisms to clinical implications.结直肠癌中的微卫星不稳定性：从分子致癌机制到临床意义。
Cell Oncol (Dordr). 2011 Jun;34(3):155-76. doi: 10.1007/s13402-011-0024-x. Epub 2011 Apr 12.
3
DNA mismatch repair deficiency in endometrial carcinoma.子宫内膜癌中的DNA错配修复缺陷
Int J Gynecol Pathol. 2009 May;28(3):239-55. doi: 10.1097/PGP.0b013e31818d8fe6.
4
Current and emerging trends in Lynch syndrome identification in women with endometrial cancer.子宫内膜癌女性林奇综合征识别的当前及新出现的趋势
Gynecol Oncol. 2009 Jul;114(1):128-34. doi: 10.1016/j.ygyno.2009.03.003. Epub 2009 Apr 17.
5
Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes.家族性乳腺癌：BRCA1和BRCA2突变的双重杂合性与不同表型。
Fam Cancer. 2008;7(2):119-24. doi: 10.1007/s10689-007-9154-8. Epub 2007 Jul 17.
6
Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.在一个家族中，MSH2和BRCA2基因均发生种系截短突变。
Br J Cancer. 2004 Jan 26;90(2):483-91. doi: 10.1038/sj.bjc.6601424.
7
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.由于BRCA1和BRCA2基因的遗传性突变导致的乳腺癌和卵巢癌风险。
Science. 2003 Oct 24;302(5645):643-6. doi: 10.1126/science.1088759.
8
Hereditary colorectal cancer.遗传性结直肠癌
N Engl J Med. 2003 Mar 6;348(10):919-32. doi: 10.1056/NEJMra012242.
9
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.MSH6基因变异的分子与临床特征：对25例种系变异索引携带者的分析
Am J Hum Genet. 2002 Jan;70(1):26-37. doi: 10.1086/337944.
10
Genetic and clinical features of human pancreatic ductal adenocarcinomas with widespread microsatellite instability.具有广泛微卫星不稳定性的人胰腺导管腺癌的遗传和临床特征
Cancer Res. 2001 Apr 1;61(7):3139-44.