• 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

Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer.

作者信息

Ripperger Tim, Evans D Gareth, Malkin David, Kratz Christian P

机构信息

Department of Human Genetics, Hannover Medical School, Hannover, Germany.

Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PL, UK.

出版信息

Fam Cancer. 2021 Oct;20(4):289-291. doi: 10.1007/s10689-021-00228-2. Epub 2021 Feb 12.

DOI:10.1007/s10689-021-00228-2
PMID:33576909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8484144/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f30/8484144/55ff4f36442d/10689_2021_228_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f30/8484144/55ff4f36442d/10689_2021_228_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f30/8484144/55ff4f36442d/10689_2021_228_Fig1_HTML.jpg

相似文献

1
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer.在两条道路中选择并坚持一条:区分临床基因检测与研究性基因检测,以在癌症患者中识别癌症易感性综合征。
Fam Cancer. 2021 Oct;20(4):289-291. doi: 10.1007/s10689-021-00228-2. Epub 2021 Feb 12.
2
Genetic testing for cancer predisposition.癌症易感性的基因检测。
Annu Rev Med. 2001;52:371-400. doi: 10.1146/annurev.med.52.1.371.
3
Concise handbook of familial cancer susceptibility syndromes - second edition.《家族性癌症易感性综合征简明手册》第二版
J Natl Cancer Inst Monogr. 2008(38):1-93. doi: 10.1093/jncimonographs/lgn001.
4
Genetic Predisposition to Neonatal Tumors.新生儿肿瘤的遗传易感性。
Curr Pediatr Rev. 2015;11(3):164-78. doi: 10.2174/1573396311666150714110229.
5
[Hereditary cancer predisposition syndromes associated with sarcomas].[与肉瘤相关的遗传性癌症易感性综合征]
Magy Onkol. 2020 Mar 17;64(1):56-61. Epub 2020 Feb 11.
6
Hereditary cancer syndromes: if you look, you will find them.遗传性癌症综合征:若你去探寻,便会发现它们。
Pediatr Blood Cancer. 2012 Jan;58(1):5-6. doi: 10.1002/pbc.23336. Epub 2011 Sep 24.
7
Patients in Whom to Consider Genetic Evaluation and Testing for Hereditary Colorectal Cancer Syndromes.考虑对遗传性结直肠癌综合征进行基因评估和检测的患者。
Am J Gastroenterol. 2020 Jan;115(1):1-4. doi: 10.14309/ajg.0000000000000362.
8
Testing for cancer susceptibility genes in children.儿童癌症易感基因检测。
Adv Pediatr. 1999;46:1-40.
9
By the pricking of my thumbs, something wicked this way comes: sporadic cancers versus eponymous hereditary cancer predisposition syndromes.按我的拇指刺痛,有邪恶的东西来了:散发性癌症与同名遗传性癌症易感性综合征。
J Natl Compr Canc Netw. 2012 Jan;10(1):7-13. doi: 10.6004/jnccn.2012.0004.
10
Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?遗传性癌症综合征——临床谱比之前所认识的更广泛?
JAMA Oncol. 2022 Nov 1;8(11):1698-1699. doi: 10.1001/jamaoncol.2022.3776.

引用本文的文献

1
Model of care for individuals with rare cancer predisposition syndromes in Germany.德国罕见癌症易感性综合征患者的护理模式。
Lancet Reg Health Eur. 2025 Jun 26;56:101358. doi: 10.1016/j.lanepe.2025.101358. eCollection 2025 Sep.
2
Re-envisioning genetic predisposition to childhood and adolescent cancers.重新审视儿童和青少年癌症的遗传易感性。
Nat Rev Cancer. 2025 Feb;25(2):109-128. doi: 10.1038/s41568-024-00775-7. Epub 2024 Dec 3.
3
Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.

本文引用的文献

1
Germline Elongator mutations in Sonic Hedgehog medulloblastoma.胚系延伸酶突变与 Sonic Hedgehog 型髓母细胞瘤。
Nature. 2020 Apr;580(7803):396-401. doi: 10.1038/s41586-020-2164-5. Epub 2020 Apr 1.
2
Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature.通过下一代测序检测到的儿童癌症患者中具有临床意义的种系变异的研究:文献综述。
J Med Genet. 2018 Dec;55(12):785-793. doi: 10.1136/jmedgenet-2018-105488. Epub 2018 Oct 4.
3
Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors.
麦吉尔互动儿科肿瘤遗传学指南在识别癌症易感性综合征中的表现。
JAMA Oncol. 2021 Dec 1;7(12):1806-1814. doi: 10.1001/jamaoncol.2021.4536.
回顾性评估一种用于神经母细胞瘤患儿遗传转诊的决策支持算法(MIPOGG)。
Pediatr Blood Cancer. 2018 Dec;65(12):e27390. doi: 10.1002/pbc.27390. Epub 2018 Aug 16.
4
Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr.儿童癌症易感性与监测:概述及对小阿尔弗雷德·G·克努森的致敬
Clin Cancer Res. 2017 Jun 1;23(11):e1-e5. doi: 10.1158/1078-0432.CCR-17-0702.
5
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.儿童癌症易感性综合征——儿科肿瘤学和血液学协会癌症易感性工作组的简要综述与建议
Am J Med Genet A. 2017 Apr;173(4):1017-1037. doi: 10.1002/ajmg.a.38142. Epub 2017 Feb 7.
6
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.临床外显子组和基因组测序中次要发现报告的建议,2016年更新版(美国医学遗传学与基因组学学会次要发现v2.0):美国医学遗传学与基因组学学会政策声明
Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17.
7
Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.识别儿科癌症患者的遗传易感性:一种易于使用的选择工具。
Eur J Med Genet. 2016 Mar;59(3):116-25. doi: 10.1016/j.ejmg.2016.01.008. Epub 2016 Jan 26.
8
Germline Mutations in Predisposition Genes in Pediatric Cancer.儿童癌症中易感基因的种系突变
N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18.
9
Sensitivity and predictive value of criteria for p53 germline mutation screening.p53基因种系突变筛查标准的敏感性和预测价值。
J Med Genet. 2001 Jan;38(1):43-7. doi: 10.1136/jmg.38.1.43.