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前列腺癌的全基因组研究使液体活检成为一种分子发现工具。

Genome-wide studies in prostate cancer poised liquid biopsy as a molecular discovery tool.

作者信息

Lo Nicholas, He Housheng Hansen, Chen Sujun

机构信息

Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.

Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada.

出版信息

Front Oncol. 2023 Aug 24;13:1185013. doi: 10.3389/fonc.2023.1185013. eCollection 2023.

DOI:10.3389/fonc.2023.1185013
PMID:37692852
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10484097/
Abstract

Liquid biopsy is emerging as an intriguing tool in clinical disease detection and monitoring. Compared to a standard tissue biopsy, performing a liquid biopsy incurs minimal invasiveness, captures comprehensive disease representation, and can be more sensitive at an early stage. Recent genome-wide liquid biopsy studies in prostate cancer analyzing plasma samples have provided insights into the genome and epigenome dynamics during disease progression. In-depth genomic sequencing can offer a comprehensive understanding of cancer evolution, enabling more accurate clinical decision-making. Furthermore, exploring beyond the DNA sequence itself provides opportunities to investigate the regulatory mechanisms underlying various disease phenotypes. Here, we summarize these advances and offer prospects for their future application.

摘要

液体活检正在成为临床疾病检测和监测中一种引人关注的工具。与标准组织活检相比,进行液体活检的侵入性极小,能够全面反映疾病情况,并且在疾病早期可能更敏感。最近在前列腺癌中对血浆样本进行的全基因组液体活检研究,为疾病进展过程中的基因组和表观基因组动态提供了见解。深入的基因组测序能够全面了解癌症演变,有助于做出更准确的临床决策。此外,对DNA序列本身之外的探索为研究各种疾病表型背后的调控机制提供了机会。在此,我们总结这些进展,并展望它们的未来应用前景。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51ec/10484097/c8b4e78b8f57/fonc-13-1185013-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51ec/10484097/c8b4e78b8f57/fonc-13-1185013-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51ec/10484097/c8b4e78b8f57/fonc-13-1185013-g001.jpg

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Clin Biochem. 2023 Jun;116:120-127. doi: 10.1016/j.clinbiochem.2023.04.011. Epub 2023 Apr 29.
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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.一种使用循环肿瘤DNA外显子组对DNA修复缺陷进行分类的通用机器学习框架。
NPJ Precis Oncol. 2023 Mar 13;7(1):27. doi: 10.1038/s41698-023-00366-z.
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A framework for clinical cancer subtyping from nucleosome profiling of cell-free DNA.
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Nat Commun. 2022 Dec 3;13(1):7475. doi: 10.1038/s41467-022-35076-w.
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Towards clinical implementation of circulating tumor DNA in metastatic prostate cancer: Opportunities for integration and pitfalls to interpretation.迈向循环肿瘤DNA在转移性前列腺癌中的临床应用:整合的机遇与解读的陷阱
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