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本文引用的文献

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SvABA: genome-wide detection of structural variants and indels by local assembly.SvABA:通过局部组装进行全基因组结构变异和插入缺失的检测。
Genome Res. 2018 Apr;28(4):581-591. doi: 10.1101/gr.221028.117. Epub 2018 Mar 13.
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Frameshift events predict anti-PD-1/L1 response in head and neck cancer.移码事件可预测头颈部癌症对 PD-1/L1 治疗的反应。
JCI Insight. 2018 Feb 22;3(4). doi: 10.1172/jci.insight.98811.
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Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing.独特的、双索引测序接头与 UMIs 有效地消除了索引串扰,显著提高了大规模平行测序的灵敏度。
BMC Genomics. 2018 Jan 8;19(1):30. doi: 10.1186/s12864-017-4428-5.
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Merkel cell carcinoma.默克尔细胞癌。
Nat Rev Dis Primers. 2017 Oct 26;3:17077. doi: 10.1038/nrdp.2017.77.
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Validation of OncoPanel: A Targeted Next-Generation Sequencing Assay for the Detection of Somatic Variants in Cancer.OncoPanel验证:一种用于检测癌症体细胞变异的靶向新一代测序分析方法
Arch Pathol Lab Med. 2017 Jun;141(6):751-758. doi: 10.5858/arpa.2016-0527-OA. Epub 2017 Mar 3.
6
Merkel Cell Polyomavirus Exhibits Dominant Control of the Tumor Genome and Transcriptome in Virus-Associated Merkel Cell Carcinoma.默克尔细胞多瘤病毒在病毒相关的默克尔细胞癌中对肿瘤基因组和转录组具有主导控制作用。
mBio. 2017 Jan 3;8(1):e02079-16. doi: 10.1128/mBio.02079-16.
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Institutional implementation of clinical tumor profiling on an unselected cancer population.在未选择的癌症人群中进行临床肿瘤分析的机构实施。
JCI Insight. 2016 Nov 17;1(19):e87062. doi: 10.1172/jci.insight.87062.
8
Polyomavirus-Negative Merkel Cell Carcinoma: A More Aggressive Subtype Based on Analysis of 282 Cases Using Multimodal Tumor Virus Detection.多瘤病毒阴性默克尔细胞癌:基于282例病例多模态肿瘤病毒检测分析的一种侵袭性更强的亚型
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ViroPanel:用于同时检测和分析致癌病毒感染和肿瘤基因组的杂交捕获和大规模平行测序。

ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome.

机构信息

Center for Cancer Genomics, Dana-Farber Cancer Institute, Boston, Massachusetts; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.

Laboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland.

出版信息

J Mol Diagn. 2020 Apr;22(4):476-487. doi: 10.1016/j.jmoldx.2019.12.010. Epub 2020 Feb 15.

DOI:10.1016/j.jmoldx.2019.12.010
PMID:32068070
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7193840/
Abstract

Precision cancer medicine aims to classify tumors by site, histology, and molecular testing to determine an individualized profile of cancer alterations. Viruses are a major contributor to oncogenesis, causing 12% to 20% of all human cancers. Several viruses are causal of specific types of cancer, promoting dysregulation of signaling pathways and resulting in carcinogenesis. In addition, integration of viral DNA into the host (human) genome is a hallmark of some viral species. Tests for the presence of viral infection used in the clinical setting most often use quantitative PCR or immunohistochemical staining. Both approaches have limitations and need to be interpreted/scored appropriately. In some cases, results are not binary (virus present/absent), and it is unclear what to do with a weakly or partially positive result. In addition, viral testing of cancers is performed separately from tests to detect human genomic alterations and can thus be time-consuming and use limited valuable specimen. We present a hybrid-capture and massively parallel sequencing approach to detect viral infection that is integrated with targeted genomic analysis to provide a more complete tumor profile from a single sample.

摘要

精准癌症医学旨在通过对肿瘤进行分类,包括组织学和分子检测,以确定癌症变化的个体化特征。病毒是致癌的主要因素,导致 12%至 20%的所有人类癌症。一些病毒会导致特定类型的癌症,促进信号通路的失调,从而导致癌变。此外,病毒 DNA 整合到宿主(人类)基因组中是某些病毒的标志。临床环境中用于检测病毒感染的检测方法最常使用定量 PCR 或免疫组织化学染色。这两种方法都有局限性,需要进行适当的解释/评分。在某些情况下,结果不是二进制的(病毒存在/不存在),而且对于弱阳性或部分阳性结果,尚不清楚该如何处理。此外,癌症的病毒检测与检测人类基因组改变的检测分开进行,因此可能耗时且会使用有限的宝贵标本。我们提出了一种混合捕获和大规模平行测序方法来检测病毒感染,该方法与靶向基因组分析相结合,可从单个样本中提供更完整的肿瘤特征。