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作为癌症生物标志物的拷贝数改变特征:综述

Copy number alteration signatures as biomarkers in cancer: a review.

作者信息

Giles Doran Conor, Pennington Stephen R

机构信息

UCD Conway Institute, School of Medicine, University College Dublin, Belfield, Dublin 4, Ireland.

出版信息

Biomark Med. 2022 Apr;16(5):371-386. doi: 10.2217/bmm-2021-0476. Epub 2022 Feb 23.

Abstract

Within certain cancers, extensive copy number alterations (CNAs) contribute to a complex and heterogenic genomic profile. This makes it difficult to understand and unravel the distinct molecular dynamics shaping the disease while preventing clinically effective patient stratification. CNA signature analysis represents a novel genomic stratification tool for probing this complexity, offering an intricate framework for deriving CNA patterns at the molecular level. This allows the underlying genomic mechanisms of specific cancers to be revealed, leading to the potential identification of therapeutic targets and prognostic associations. This review outlines the molecular and methodological basis of CNA signatures and focuses on recent advances highlighting their clinical utility, limitations and prospective future as novel diagnostic and prognostic cancer biomarkers.

摘要

在某些癌症中,广泛的拷贝数改变(CNA)导致了复杂且异质性的基因组图谱。这使得理解和阐明塑造该疾病的独特分子动力学变得困难,同时阻碍了临床上有效的患者分层。CNA特征分析是一种用于探究这种复杂性的新型基因组分层工具,为在分子水平推导CNA模式提供了一个复杂的框架。这能够揭示特定癌症的潜在基因组机制,从而有可能识别治疗靶点和预后关联。本综述概述了CNA特征的分子和方法学基础,并重点关注了近期的进展,突出了它们作为新型癌症诊断和预后生物标志物的临床效用、局限性和未来前景。

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