Cited by 490Cancer Genomics and DiagnosticsChromatin Remodeling and CancerDNA Repair Mechanisms

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

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Alexandrov, Ludmil B, Stratton, Michael R·2014·Current Opinion in Genetics & Development

DOI 10.1016/j.gde.2013.11.014PMC PMC3990474

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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.

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Figure 1 Mutational processes operative in a cancer. This simulated example illustrates four distinct mutational processes with variable strengths operative at different times throughout the lifetime of the patient. Each of these processes has a unique mutational signature exemplified by the six classes of somatic substitutions. At the beginning, all mutations in the cell (from which the cancer was eventually developed) were due to the activity of the endogenous mutational process 1. As time progresses, the other mutational process get activated and the spectrum of the cell continues to change. Note that the final sequenced cancer genome does not resemble any of the operative mutational signatures.CC BY · PubMed Central

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Additional file 4 of Non-CpG sites preference in G:C > A:T transition of TP53 in gastric cancer of Eastern Europe (Poland, Romania and Hungary) compared to East Asian countries (China and Japan)
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Additional file 3 of Non-CpG sites preference in G:C > A:T transition of TP53 in gastric cancer of Eastern Europe (Poland, Romania and Hungary) compared to East Asian countries (China and Japan)
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Authors: Alexandrov, L. B., & Stratton, M. R.
Affiliations: Wellcome Sanger Institute (GB)
Corresponding author: Alexandrov, Ludmil B
ORCID: Alexandrov, Ludmil B
Stratton, Michael R
Venue: Current Opinion in Genetics & Development
Publisher: Elsevier BV
Published: 2014-02
Volume: 24
Pages: 52-60
ISSN: 0959-437X (ISSN-L)
DOI: 10.1016/j.gde.2013.11.014
PMC: PMC3990474
OpenAlex: W1973702005
Cited by: 488
References: 93
Citations by year: 2026: 17 · 2025: 25 · 2024: 32 · 2023: 37 · 2022: 38 · 2021: 52 · 2020: 53 · 2019: 61 · 2018: 57 · 2017: 48 · 2016: 35 · 2015: 23 · 2014: 8
FWCI: 3.77
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by/3.0/ (vor)
Locations: Current Opinion in Genetics & Development (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
Funders: Wellcome Trust (098051)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Keywords: mutational signatures, somatic mutations, mutational processes, cancer genomics, mutation patterns
MeSH terms: Humans, Mutation, Neoplasms, Genome, Human, Tumor Suppressor Protein p53, Genomics, High-Throughput Nucleotide Sequencing

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

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