• Suppr超能文献
  • 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
定价套餐&价格
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Win 客户端微信小程序
定价
会员套餐积分包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

正在获取文献详情

最多等待 10 秒，若超时请稍后重试。

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

正在获取文献详情

最多等待 10 秒，若超时请稍后重试。

游离DNA测序：技术方法与生物信息学问题

cfDNA Sequencing: Technological Approaches and Bioinformatic Issues.

机构信息

INSERM U1245, Henri Becquerel Center, IRIB, Normandy University, 76000 Rouen, France.

出版信息

Pharmaceuticals (Basel). 2021 Jun 21;14(6):596. doi: 10.3390/ph14060596.

DOI:10.3390/ph14060596
PMID:34205827
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8234829/
Abstract

In the era of precision medicine, it is crucial to identify molecular alterations that will guide the therapeutic management of patients. In this context, circulating tumoral DNA (ctDNA) released by the tumor in body fluids, like blood, and carrying its molecular characteristics is becoming a powerful biomarker for non-invasive detection and monitoring of cancer. Major recent technological advances, especially in terms of sequencing, have made possible its analysis, the challenge still being its reliable early detection. Different parameters, from the pre-analytical phase to the choice of sequencing technology and bioinformatic tools can influence the sensitivity of ctDNA detection.

摘要

在精准医学时代，识别能够指导患者治疗管理的分子改变至关重要。在这种背景下，肿瘤释放到体液（如血液）中的循环肿瘤DNA（ctDNA）携带着肿瘤的分子特征，正成为癌症非侵入性检测和监测的有力生物标志物。近期主要的技术进步，尤其是在测序方面，使其分析成为可能，然而挑战依然是其可靠的早期检测。从分析前阶段到测序技术和生物信息学工具的选择等不同参数，都会影响ctDNA检测的灵敏度。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf20/8234829/4817e925fb36/pharmaceuticals-14-00596-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf20/8234829/4817e925fb36/pharmaceuticals-14-00596-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf20/8234829/4817e925fb36/pharmaceuticals-14-00596-g001.jpg

相关文献

1cfDNA Sequencing: Technological Approaches and Bioinformatic Issues.PubMed译游离DNA测序：技术方法与生物信息学问题

Pharmaceuticals (Basel). 2021 Jun 21;14(6):596. doi: 10.3390/ph14060596.

2SiNVICT: ultra-sensitive detection of single nucleotide variants and indels in circulating tumour DNA.PubMed译SiNVICT：循环肿瘤 DNA 中单核苷酸变异和插入缺失的超灵敏检测。

Can Kockan, Faraz Hach, Iman Sarrafi, et al.
Bioinformatics. 2017 Jan 1;33(1):26-34. doi: 10.1093/bioinformatics/btw536. Epub 2016 Aug 16.

3Cell free circulating tumor nucleic acids, a revolution in personalized cancer medicine.PubMed译无细胞循环肿瘤核酸，个性化癌症医学的革命。

Mohammad Amin Kerachian, Ali Poudineh, Jean Paul Thiery
Crit Rev Oncol Hematol. 2019 Dec;144:102827. doi: 10.1016/j.critrevonc.2019.102827. Epub 2019 Nov 2.

4A field guide for cancer diagnostics using cell-free DNA: From principles to practice and clinical applications.PubMed译使用游离细胞 DNA 进行癌症诊断的现场指南：从原理到实践及临床应用。

Anna-Lena Volckmar, Holger Sültmann, Anja Riediger, et al.
Genes Chromosomes Cancer. 2018 Mar;57(3):123-139. doi: 10.1002/gcc.22517. Epub 2017 Dec 20.

5Circulating tumor DNA and liquid biopsy: opportunities, challenges, and recent advances in detection technologies.PubMed译循环肿瘤 DNA 和液体活检：检测技术的机遇、挑战和最新进展。

Lena Gorgannezhad, Muhammad Umer, Md Nazmul Islam, et al.
Lab Chip. 2018 Apr 17;18(8):1174-1196. doi: 10.1039/C8LC00100F.

6Technical considerations for circulating tumor DNA detection in oncology.PubMed译循环肿瘤 DNA 检测在肿瘤学中的技术考虑因素。

Claire Franczak, Pierre Filhine-Tresarrieu, Pauline Gilson, et al.
Expert Rev Mol Diagn. 2019 Feb;19(2):121-135. doi: 10.1080/14737159.2019.1568873. Epub 2019 Jan 23.

7The cornerstone of integrating circulating tumor DNA into cancer management.PubMed译将循环肿瘤 DNA 纳入癌症管理的基石。

Ziyang Li, Lang Yi, Peng Gao, et al.
Biochim Biophys Acta Rev Cancer. 2019 Jan;1871(1):1-11. doi: 10.1016/j.bbcan.2018.11.002. Epub 2018 Nov 9.

8Circulating Tumor DNA Abundance and Potential Utility in De Novo Metastatic Prostate Cancer.PubMed译循环肿瘤 DNA 丰度及其在初发性转移性前列腺癌中的潜在应用。

Gillian Vandekerkhove, Werner J Struss, Matti Annala, et al.
Eur Urol. 2019 Apr;75(4):667-675. doi: 10.1016/j.eururo.2018.12.042. Epub 2019 Jan 10.

9Ultrasensitive Detection of Circulating Tumor DNA in Lymphoma via Targeted Hybridization Capture and Deep Sequencing of Barcoded Libraries.PubMed译通过靶向杂交捕获和条形码文库深度测序对淋巴瘤中循环肿瘤DNA进行超灵敏检测。

Methods Mol Biol. 2019;1956:383-435. doi: 10.1007/978-1-4939-9151-8_20.

10The effect of surgical trauma on circulating free DNA levels in cancer patients-implications for studies of circulating tumor DNA.PubMed译手术创伤对癌症患者循环游离 DNA 水平的影响——对循环肿瘤 DNA 研究的启示。

Tenna V Henriksen, Thomas Reinert, Emil Christensen, et al.
Mol Oncol. 2020 Aug;14(8):1670-1679. doi: 10.1002/1878-0261.12729. Epub 2020 Jun 16.

相关文献

1Multi-analyte liquid biopsy approaches for early detection of esophageal cancer: the expanding role of ctDNA.PubMed译用于食管癌早期检测的多分析物液体活检方法：循环肿瘤DNA的作用不断扩大

et al.
Front Oncol. 2025 Aug 14;15:1622984. doi: 10.3389/fonc.2025.1622984. eCollection 2025.

相关文献

1Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology.PubMed译评估循环肿瘤 DNA 测序分析在精准肿瘤学中的分析有效性。

Ira W Deveson, Binsheng Gong, Kevin Lai, et al.
Nat Biotechnol. 2021 Sep;39(9):1115-1128. doi: 10.1038/s41587-021-00857-z. Epub 2021 Apr 12.

2Evaluation of the Effectiveness and Accuracy of Non-Invasive Preimplantation Genetic Testing (niPGT) Compared to Invasive Embryo Biopsy.PubMed译与侵入性胚胎活检相比，非侵入性胚胎植入前基因检测（niPGT）的有效性和准确性评估。

et al.
Biomedicines. 2025 Aug 18;13(8):2010. doi: 10.3390/biomedicines13082010.

3Update on Liquid Biopsy.PubMed译液体活检最新进展。

et al.
Radiology. 2025 Jun;315(3):e241030. doi: 10.1148/radiol.241030.

4Protocol for the analysis of cell-free DNA end characteristics for accurate cancer diagnosis.PubMed译用于准确癌症诊断的游离DNA末端特征分析方案。

et al.
STAR Protoc. 2025 Apr 11;6(2):103757. doi: 10.1016/j.xpro.2025.103757.

5Solid-State Nanopore Sizing for cfDNA Sample Quality Control in Point-of-Need Sequencing.PubMed译用于即时测序中cfDNA样本质量控制的固态纳米孔大小测定

et al.
bioRxiv. 2025 Mar 18:2025.03.17.643726. doi: 10.1101/2025.03.17.643726.

6The Potential of cfDNA as Biomarker: Opportunities and Challenges for Neurodegenerative Diseases.PubMed译循环游离DNA作为生物标志物的潜力：神经退行性疾病面临的机遇与挑战

J Mol Neurosci. 2025 Mar 13;75(1):34. doi: 10.1007/s12031-025-02317-8.

7Lessons (to be) learned from liquid biopsies: assessment of circulating cells and cell-free DNA in cancer and pregnancy-acquired microchimerism.PubMed译从液体活检中吸取的经验教训：癌症及妊娠获得性微嵌合体中循环细胞和游离DNA的评估

et al.
Semin Immunopathol. 2025 Feb 1;47(1):14. doi: 10.1007/s00281-025-01042-z.

8High-throughput sequencing: a breakthrough in molecular diagnosis for precision medicine.PubMed译高通量测序：精准医学分子诊断的一项突破。

et al.
Funct Integr Genomics. 2025 Jan 22;25(1):22. doi: 10.1007/s10142-025-01529-w.

9Application of Circulating Tumor DNA in the Auxiliary Diagnosis and Prognosis Prediction of Glioma.PubMed译循环肿瘤DNA在胶质瘤辅助诊断及预后预测中的应用

et al.
Cell Mol Neurobiol. 2024 Dec 18;45(1):6. doi: 10.1007/s10571-024-01515-z.

10Evaluating Bioinformatics Processing of Somatic Variant Detection in cfDNA Using Targeted Sequencing with UMIs.PubMed译使用靶向测序和 UMIs 评估 cfDNA 中体细胞变异检测的生物信息学处理。

Yixin Lin, Mads Heilskov Rasmussen, Mikkel Hovden Christensen, et al.
Int J Mol Sci. 2024 Oct 24;25(21):11439. doi: 10.3390/ijms252111439.

2Improving high-resolution copy number variation analysis from next generation sequencing using unique molecular identifiers.PubMed译使用独特分子标识符改进基于新一代测序的高分辨率拷贝数变异分析。

et al.
BMC Bioinformatics. 2021 Mar 12;22(1):120. doi: 10.1186/s12859-021-04060-4.

3Routine Molecular Screening of Patients with Advanced Non-SmallCell Lung Cancer in Circulating Cell-Free DNA at Diagnosis and During Progression Using OncoBEAM EGFR V2 and NGS Technologies.PubMed译在诊断时和进展过程中使用 OncoBEAM EGFR V2 和 NGS 技术对晚期非小细胞肺癌患者的循环游离 DNA 进行常规分子筛选。

Jessica Garcia, Arnaud Gauthier, Gaëlle Lescuyer, et al.
Mol Diagn Ther. 2021 Mar;25(2):239-250. doi: 10.1007/s40291-021-00515-9. Epub 2021 Mar 3.

4Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis: a standardized approach with underappreciated potential.PubMed译游离 DNA 浅层测序在霍奇金淋巴瘤和弥漫大 B 细胞淋巴瘤（鉴别诊断）中的应用：一种具有潜在低估的标准化方法。

Lennart Raman, Malaïka Van der Linden, Ciel De Vriendt, et al.
Haematologica. 2022 Jan 1;107(1):211-220. doi: 10.3324/haematol.2020.268813.

5Detection of Mutations in Plasma Cell-Free Tumor DNA of TKI-Treated Advanced-NSCLC Patients by Three Methodologies: Scorpion-ARMS, PNAClamp, and Digital PCR.PubMed译采用三种方法检测经酪氨酸激酶抑制剂（TKI）治疗的晚期非小细胞肺癌（NSCLC）患者血浆游离肿瘤DNA中的突变：蝎形扩增不应突变系统（Scorpion-ARMS）、肽核酸钳（PNAClamp）和数字PCR。

et al.
Diagnostics (Basel). 2020 Dec 7;10(12):1062. doi: 10.3390/diagnostics10121062.

6Mass Spectrometry as a Highly Sensitive Method for Specific Circulating Tumor DNA Analysis in NSCLC: A Comparison Study.PubMed译质谱分析法作为非小细胞肺癌中特定循环肿瘤DNA分析的高灵敏度方法：一项比较研究

et al.
Cancers (Basel). 2020 Oct 16;12(10):3002. doi: 10.3390/cancers12103002.

7Liquid biopsy in lymphoma: Molecular methods and clinical applications.PubMed译淋巴瘤的液体活检：分子方法与临床应用。

Melita Cirillo, Alexander F M Craig, Sven Borchmann, et al.
Cancer Treat Rev. 2020 Dec;91:102106. doi: 10.1016/j.ctrv.2020.102106. Epub 2020 Sep 22.

8Prognostic significance of postsurgery circulating tumor DNA in nonmetastatic colorectal cancer: Individual patient pooled analysis of three cohort studies.PubMed译术后循环肿瘤 DNA 对非转移性结直肠癌的预后意义：三项队列研究的个体患者汇总分析。

Jeanne Tie, Joshua D Cohen, Serigne N Lo, et al.
Int J Cancer. 2021 Feb 15;148(4):1014-1026. doi: 10.1002/ijc.33312. Epub 2020 Oct 6.

9Circulating tumor DNA is a sensitive marker for routine monitoring of treatment response in advanced colorectal cancer.PubMed译循环肿瘤 DNA 是一种敏感的标志物，可用于常规监测晚期结直肠癌的治疗反应。

Donghui Zou, Robert Day, Judy A Cocadiz, et al.
Carcinogenesis. 2020 Nov 13;41(11):1507-1517. doi: 10.1093/carcin/bgaa102.

10UMI-Gen: A UMI-based read simulator for variant calling evaluation in paired-end sequencing NGS libraries.PubMed译UMI-Gen：一种基于单分子唯一分子标识符（UMI）的读段模拟器，用于双端测序NGS文库中的变异检测评估。

et al.
Comput Struct Biotechnol J. 2020 Aug 27;18:2270-2280. doi: 10.1016/j.csbj.2020.08.011. eCollection 2020.