Genome-scale mutational signature analysis in fixed archived tissues

IF 6.4 2区 医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI:10.1016/j.mrrev.2024.108512
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Abstract

Mutation spectra and mutational signatures in cancerous and non-cancerous tissues can be identified by various established techniques of massively parallel sequencing (or next-generation sequencing) including whole-exome or whole-genome sequencing, and more recently by error-corrected/duplex sequencing. One rather underexplored area has been the genome-scale analysis of mutational signatures as markers of mutagenic exposures, and their impact on cancer driver events applied to formalin-fixed or alcohol-fixed paraffin embedded archived biospecimens. This review showcases successful applications of the next-generation sequencing methodologies in archived fixed tissues, including the delineation of the specific tissue fixation-related DNA damage manifesting as artifactual signatures, distinguishable from the true signatures that arise from biological mutagenic processes. Overall, we discuss and demonstrate how next-generation sequencing techniques applied to archived fixed biospecimens can enhance our understanding of cancer causes including mutagenic effects of extrinsic cancer risk agents, and the implications for prevention efforts aimed at reducing avoidable cancer-causing exposures.

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固定存档组织的基因组规模突变特征分析
癌症和非癌症组织中的突变谱和突变特征可通过各种成熟的大规模并行测序(或下一代测序)技术(包括全外显子组或全基因组测序)以及最近的纠错/双工测序技术来确定。在福尔马林固定或酒精固定石蜡包埋的存档生物样本中,对作为诱变暴露标记的突变特征及其对癌症驱动事件的影响进行基因组规模的分析是一个尚未充分开发的领域。本综述展示了新一代测序方法在存档固定组织中的成功应用,包括对特定组织固定相关DNA损伤的界定,这些损伤表现为伪特征,可与生物诱变过程产生的真实特征区分开来。总之,我们讨论并展示了下一代测序技术如何应用于存档固定生物样本,从而提高我们对癌症成因(包括外在癌症风险因子的诱变效应)的认识,以及对旨在减少可避免的致癌接触的预防工作的影响。
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来源期刊
CiteScore
12.20
自引率
1.90%
发文量
22
审稿时长
15.7 weeks
期刊介绍: The subject areas of Reviews in Mutation Research encompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease. Thus this section will cover advances in human genome research (including evolving technologies for mutation detection and functional genomics) with applications in clinical genetics, gene therapy and health risk assessment for environmental agents of concern.
期刊最新文献
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