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用于识别癌症患者纵向采血中致病性循环肿瘤DNA突变的自动化仪表盘

Automated Dashboards for the Identification of Pathogenic Circulating Tumor DNA Mutations in Longitudinal Blood Draws of Cancer Patients.

作者信息

Udalov Aleksandr, Kumar Lexman, Gaudette Anna N, Zhang Ran, Salomao Joao, Saigal Sanjay, Nosrati Mehdi, McAllister Sean D, Desprez Pierre-Yves

机构信息

Graduate School of Management, UC Davis, 1 Shields Ave., Davis, CA 95616, USA.

California Pacific Medical Center, Research Institute, 475 Brannan St., San Francisco, CA 94107, USA.

出版信息

Methods Protoc. 2023 May 1;6(3):46. doi: 10.3390/mps6030046.

DOI:10.3390/mps6030046
PMID:37218906
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10204543/
Abstract

The longitudinal monitoring of patient circulating tumor DNA (ctDNA) provides a powerful method for tracking the progression, remission, and recurrence of several types of cancer. Often, clinical and research approaches involve the manual review of individual liquid biopsy reports after sampling and genomic testing. Here, we describe a process developed to integrate techniques utilized in data science within a cancer research framework. Using data collection, an analysis that classifies genetic cancer mutations as pathogenic, and a patient matching methodology that identifies the same donor within all liquid biopsy reports, the manual work for research personnel is drastically reduced. Automated dashboards provide longitudinal views of patient data for research studies to investigate tumor progression and treatment efficacy via the identification of ctDNA variant allele frequencies over time.

摘要

对患者循环肿瘤DNA(ctDNA)进行纵向监测,为追踪多种癌症的进展、缓解和复发提供了一种强大的方法。通常,临床和研究方法涉及在采样和基因组检测后人工查看个体液体活检报告。在此,我们描述了一个开发过程,该过程将数据科学中使用的技术整合到癌症研究框架内。通过数据收集、将遗传性癌症突变分类为致病性突变的分析以及在所有液体活检报告中识别同一供体的患者匹配方法,大幅减少了研究人员的人工工作。自动化仪表板为研究提供患者数据的纵向视图,以便通过识别ctDNA变异等位基因频率随时间的变化来研究肿瘤进展和治疗效果。

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本文引用的文献

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Pitfalls and Rewards of Setting Up a Liquid Biopsy Approach for the Detection of Driver Mutations in Circulating Tumor DNAs: Our Institutional Experience.建立液体活检方法检测循环肿瘤DNA中驱动突变的陷阱与回报:我们机构的经验
J Pers Med. 2022 Nov 4;12(11):1845. doi: 10.3390/jpm12111845.
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ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group.ESMO 关于使用循环肿瘤 DNA 检测用于癌症患者的建议:来自 ESMO 精准医学工作组的报告。
Ann Oncol. 2022 Aug;33(8):750-768. doi: 10.1016/j.annonc.2022.05.520. Epub 2022 Jul 6.
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Circulating tumor DNA: current challenges for clinical utility.
循环肿瘤 DNA:临床应用的当前挑战。
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Mutational signatures are markers of drug sensitivity of cancer cells.突变特征是癌细胞药物敏感性的标志物。
Nat Commun. 2022 May 25;13(1):2926. doi: 10.1038/s41467-022-30582-3.
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Use of Circulating Tumour DNA (ctDNA) for Measurement of Therapy Predictive Biomarkers in Patients with Cancer.循环肿瘤DNA(ctDNA)在癌症患者治疗预测生物标志物检测中的应用
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The Unsupervised Feature Selection Algorithms Based on Standard Deviation and Cosine Similarity for Genomic Data Analysis.基于标准差和余弦相似度的无监督特征选择算法在基因组数据分析中的应用
Front Genet. 2021 May 13;12:684100. doi: 10.3389/fgene.2021.684100. eCollection 2021.
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Case study of the integration of electronic patient-reported outcomes as standard of care in a head and neck oncology practice: Obstacles and opportunities.头颈肿瘤学实践中电子患者报告结局作为护理标准整合的案例研究:障碍与机遇
Cancer. 2021 Feb 1;127(3):359-371. doi: 10.1002/cncr.33272. Epub 2020 Oct 27.
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Review of precision cancer medicine: Evolution of the treatment paradigm.精准肿瘤医学述评:治疗范式的演变。
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Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947. doi: 10.1093/nar/gky1015.
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