• 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

Evidence suggests that germline mutations are a rare cause of serrated polyposis.

作者信息

Quintana Isabel, Mejías-Luque Raquel, Terradas Mariona, Navarro Matilde, Piñol Virginia, Mur Pilar, Belhadj Sami, Grau Elia, Darder Esther, Solanes Ares, Brunet Joan, Capellá Gabriel, Gerhard Markus, Valle Laura

机构信息

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.

Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.

出版信息

Gut. 2018 Dec;67(12):2230-2232. doi: 10.1136/gutjnl-2017-315733. Epub 2018 Jan 12.

DOI:10.1136/gutjnl-2017-315733
PMID:29330307
Abstract
摘要

相似文献

1
Evidence suggests that germline mutations are a rare cause of serrated polyposis.有证据表明，种系突变是锯齿状息肉病的罕见病因。
Gut. 2018 Dec;67(12):2230-2232. doi: 10.1136/gutjnl-2017-315733. Epub 2018 Jan 12.
2
RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.锯齿状途径中 RNF43 胚系和体细胞突变及其与 BRAF 突变的关联。
Gut. 2017 Sep;66(9):1645-1656. doi: 10.1136/gutjnl-2016-311849. Epub 2016 Jun 21.
3
Lack of evidence for germline mutations in patients with serrated polyposis syndrome from a large multinational study.一项大型跨国研究表明，锯齿状息肉综合征患者不存在生殖系突变的证据。
Gut. 2017 Jun;66(6):1170-1172. doi: 10.1136/gutjnl-2016-312773. Epub 2016 Aug 31.
4
RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers.与散发性微卫星不稳定型结直肠癌相比，林奇综合征中RNF43的突变频率较低。
Fam Cancer. 2018 Jan;17(1):63-69. doi: 10.1007/s10689-017-0003-0.
5
RNF43 Is an Early and Specific Mutated Gene in the Serrated Pathway, With Increased Frequency in Traditional Serrated Adenoma and Its Associated Malignancy.RNF43 是锯齿状通路中早期且特异性的突变基因，在传统锯齿状腺瘤及其相关恶性肿瘤中频率增加。
Am J Surg Pathol. 2016 Oct;40(10):1352-9. doi: 10.1097/PAS.0000000000000664.
6
Frequent PTPRK-RSPO3 fusions and RNF43 mutations in colorectal traditional serrated adenoma.结直肠传统锯齿状腺瘤中频繁的 PTPRK-RSPO3 融合和 RNF43 突变。
J Pathol. 2016 Jun;239(2):133-8. doi: 10.1002/path.4709. Epub 2016 Apr 9.
7
RNF43 and ZNRF3 are commonly altered in serrated pathway colorectal tumorigenesis.RNF43和ZNRF3在锯齿状通路结直肠癌发生过程中常发生改变。
Oncotarget. 2016 Oct 25;7(43):70589-70600. doi: 10.18632/oncotarget.12130.
8
Increased Risk of Colorectal Cancer in Patients With Multiple Serrated Polyps and Their First-Degree Relatives.多发性锯齿状息肉患者及其一级亲属结直肠癌发病风险增加。
Gastroenterology. 2017 Jul;153(1):106-112.e2. doi: 10.1053/j.gastro.2017.04.003. Epub 2017 Apr 9.
9
Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation.家族性腺瘤性息肉病中的锯齿状腺瘤：与种系APC基因突变的关系
Gut. 2002 Mar;50(3):402-4. doi: 10.1136/gut.50.3.402.
10
BRAF and KRAS mutations in colorectal hyperplastic polyps and serrated adenomas.结直肠增生性息肉和锯齿状腺瘤中的BRAF和KRAS突变
Cancer Res. 2003 Aug 15;63(16):4878-81.

引用本文的文献

1
Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.HIC1 DNA结合域中的种系致病性变异与家族性锯齿状息肉综合征相关。
Int J Cancer. 2025 Sep 15;157(6):1154-1167. doi: 10.1002/ijc.35492. Epub 2025 May 30.
2
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。
Fam Cancer. 2024 Nov 15;24(1):3. doi: 10.1007/s10689-024-00428-6.
3
Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.
接受结肠镜检查的阿什肯纳兹犹太人中结直肠肿瘤易感性基因的奠基者致病变异
BJC Rep. 2024 Mar 5;2(1):17. doi: 10.1038/s44276-024-00045-x.
4
Genetic Testing of Japanese Patients with Serrated Polyposis Syndrome: A Multicentric Study.日本锯齿状息肉综合征患者的基因检测：一项多中心研究。
J Anus Rectum Colon. 2024 Oct 25;8(4):348-355. doi: 10.23922/jarc.2024-030. eCollection 2024.
5
New Target(s) for RNF43 Regulation: Implications for Therapeutic Strategies.新的 RNF43 调节靶点：治疗策略的影响。
Int J Mol Sci. 2024 Jul 24;25(15):8083. doi: 10.3390/ijms25158083.
6
Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.通过对患有多发性结直肠癌的林奇综合征病例进行分子分析揭示的肿瘤发生新见解。
Front Oncol. 2024 Apr 25;14:1378392. doi: 10.3389/fonc.2024.1378392. eCollection 2024.
7
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.遗传性 BRCA1 和 RNF43 致病性变异与家族性结直肠癌 X 型家族相关。
Fam Cancer. 2024 Mar;23(1):9-21. doi: 10.1007/s10689-023-00351-2. Epub 2023 Dec 8.
8
Wnt genes in colonic polyposis predisposition.结肠息肉病易感性中的Wnt基因。
Genes Dis. 2022 Dec 29;10(3):753-757. doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May.
9
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?遗传性结直肠癌：需要检测多少个和哪些基因？
Int J Mol Sci. 2023 Jan 21;24(3):2137. doi: 10.3390/ijms24032137.
10
Unraveling the impact of a germline heterozygous frameshift variant in serrated polyposis syndrome.解析锯齿状息肉病综合征中种系杂合移码变异的影响。
Front Mol Biosci. 2023 Jan 23;10:1119900. doi: 10.3389/fmolb.2023.1119900. eCollection 2023.