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2
High ctDNA molecule numbers relate with poor outcome in advanced ER+, HER2- postmenopausal breast cancer patients treated with everolimus and exemestane.ctDNA 分子数量高与接受依维莫司和依西美坦治疗的晚期 ER+/HER2-绝经后乳腺癌患者预后不良相关。
Mol Oncol. 2020 Mar;14(3):490-503. doi: 10.1002/1878-0261.12617. Epub 2020 Feb 7.
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Mutant p53 drives clonal hematopoiesis through modulating epigenetic pathway.突变型 p53 通过调节表观遗传通路驱动克隆性造血。
Nat Commun. 2019 Dec 11;10(1):5649. doi: 10.1038/s41467-019-13542-2.
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Assessing clonal haematopoiesis: clinical burdens and benefits of diagnosing myelodysplastic syndrome precursor states.评估克隆性造血:诊断骨髓增生异常综合征前驱状态的临床负担与益处
Lancet Haematol. 2020 Jan;7(1):e73-e81. doi: 10.1016/S2352-3026(19)30211-X. Epub 2019 Dec 3.
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6
Multicenter Evaluation of Circulating Cell-Free DNA Extraction and Downstream Analyses for the Development of Standardized (Pre)analytical Work Flows.多中心评估循环游离 DNA 提取及其下游分析,以制定标准化(术前)分析流程。
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血浆循环无细胞 DNA 和配对白细胞联合突变测序在治疗反应预测中的潜力。

The potential of combined mutation sequencing of plasma circulating cell-free DNA and matched white blood cells for treatment response prediction.

机构信息

Laboratory of Molecular Pathology, Department of Pathology (EA10), University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

出版信息

Mol Oncol. 2020 Mar;14(3):487-489. doi: 10.1002/1878-0261.12646. Epub 2020 Feb 23.

DOI:10.1002/1878-0261.12646
PMID:32017376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7053232/
Abstract

Highly sensitive mutation detection methods enable the application of circulating cell-free DNA for molecular tumor profiling. Recent studies revealed that sequencing artifacts, germline variants, and clonal hematopoiesis confound the interpretation of sequencing results and complicate subsequent treatment decision making and disease monitoring. Parallel sequencing of matched white blood cells promises to overcome these issues and enables appropriate variant calling. Comment on: https://doi.org/10.1002/1878-0261.12617.

摘要

高灵敏度突变检测方法使循环无细胞 DNA 在分子肿瘤分析中的应用成为可能。最近的研究表明,测序伪影、种系变异和克隆性造血会干扰测序结果的解释,使后续的治疗决策和疾病监测变得复杂。配对白细胞的平行测序有望克服这些问题,并实现适当的变异调用。评论:https://doi.org/10.1002/1878-0261.12617。