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突变特征:隐藏在癌症基因组中的体细胞突变模式。

Mutational signatures: the patterns of somatic mutations hidden in cancer genomes.

作者信息

Alexandrov Ludmil B, Stratton Michael R

机构信息

Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom.

Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom.

出版信息

Curr Opin Genet Dev. 2014 Feb;24(100):52-60. doi: 10.1016/j.gde.2013.11.014. Epub 2013 Dec 29.

DOI:10.1016/j.gde.2013.11.014
PMID:24657537
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3990474/
Abstract

All cancers originate from a single cell that starts to behave abnormally due to the acquired somatic mutations in its genome. Until recently, the knowledge of the mutational processes that cause these somatic mutations has been very limited. Recent advances in sequencing technologies and the development of novel mathematical approaches have allowed deciphering the patterns of somatic mutations caused by different mutational processes. Here, we summarize our current understanding of mutational patterns and mutational signatures in light of both the somatic cell paradigm of cancer research and the recent developments in the field of cancer genomics.

摘要

所有癌症都起源于单个细胞,该细胞由于其基因组中获得性体细胞突变而开始表现异常。直到最近,对于导致这些体细胞突变的突变过程的了解还非常有限。测序技术的最新进展和新型数学方法的发展使得能够解读由不同突变过程引起的体细胞突变模式。在此,我们根据癌症研究的体细胞范式以及癌症基因组学领域的最新进展,总结我们目前对突变模式和突变特征的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b42a/4003386/21509353fc9b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b42a/4003386/21509353fc9b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b42a/4003386/21509353fc9b/gr1.jpg

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Sci Transl Med. 2013 Aug 7;5(197):197ra102. doi: 10.1126/scitranslmed.3006200.
3
An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers.APOBEC 胞嘧啶脱氨酶致突变模式广泛存在于人类癌症中。
RAD18在抑制致癌物和癌基因驱动的诱变中的不同作用
bioRxiv. 2025 Jul 4:2025.06.30.662411. doi: 10.1101/2025.06.30.662411.
4
Conformation-Dependent Lesion Bypass and Mutagenicity of Bulky 2-Acetylaminofluorene-Guanine DNA Adduct in Epigenetically Relevant Sequence Contexts.在表观遗传相关序列背景下,2-乙酰氨基芴-鸟嘌呤DNA加合物的构象依赖性损伤旁路及致突变性
Chem Res Toxicol. 2025 Aug 18;38(8):1336-1343. doi: 10.1021/acs.chemrestox.5c00055. Epub 2025 Jul 4.
5
GENOMICON-Seq enables realistic simulation of amplicon and exome sequencing for low-frequency mutation detection.GENOMICON-Seq能够对扩增子和外显子测序进行逼真模拟,以检测低频突变。
Sci Rep. 2025 Jul 2;15(1):23003. doi: 10.1038/s41598-025-05267-8.
6
Analysis of Novel DNA Adducts Derived from Acetaldehyde.源自乙醛的新型DNA加合物分析
Biomolecules. 2025 Jun 16;15(6):878. doi: 10.3390/biom15060878.
7
Explainable AI Model Reveals Informative Mutational Signatures for Cancer-Type Classification.可解释人工智能模型揭示用于癌症类型分类的信息性突变特征。
Cancers (Basel). 2025 May 22;17(11):1731. doi: 10.3390/cancers17111731.
8
Evaluating topography of mutational signatures with SigProfilerTopography.使用SigProfilerTopography评估突变特征的图谱。
Genome Biol. 2025 May 20;26(1):134. doi: 10.1186/s13059-025-03612-8.
9
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Nat Commun. 2025 May 21;16(1):4711. doi: 10.1038/s41467-025-59923-8.
10
The end of the genetic paradigm of cancer.癌症遗传范式的终结。
PLoS Biol. 2025 Mar 18;23(3):e3003052. doi: 10.1371/journal.pbio.3003052. eCollection 2025 Mar.
Nat Genet. 2013 Sep;45(9):970-6. doi: 10.1038/ng.2702. Epub 2013 Jul 14.
4
Evidence for APOBEC3B mutagenesis in multiple human cancers.APOBEC3B 突变在多种人类癌症中的证据。
Nat Genet. 2013 Sep;45(9):977-83. doi: 10.1038/ng.2701. Epub 2013 Jul 14.
5
Comprehensive molecular characterization of clear cell renal cell carcinoma.透明细胞肾细胞癌的全面分子特征分析。
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7
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