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Mutational signatures: the patterns of somatic mutations hidden in cancer genomes
Open accessAbstract
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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“This suggests that pol h may be mutagenic only in some types of blood cancer, consistent with the results of previous studies 39 .”
From DNA polymerase η mutational signatures are found in a variety of different types of cancer (2018) · cites this paper as [39]
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“The excess of pol h mutable motifs in chronic lymphocytic leukemia and GCB lymphomas that we detected in our work is consistent with the studies of Alexandrov et al. 39”
From DNA polymerase η mutational signatures are found in a variety of different types of cancer (2018) · cites this paper as [39]
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2 of the 93 references couldn’t be matched to a known paper.
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The repertoire of mutational signatures in human cancer
Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature · doi:10.1038/s41586-020-1943-3 · Cited by 3,496
Self-citationPan-cancer analysis of whole genomes
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature · doi:10.1038/s41586-020-1969-6 · Cited by 3,064
Self-citationPan-tumor genomic biomarkers for PD-1 checkpoint blockade–based immunotherapy
Cristescu, R., Mogg, R., Ayers, M., Albright, A., Murphy, E., Yearley, J., Sher, X., Liu, X. Q., Lu, H., Nebozhyn, M., et al. (2018) · Science · doi:10.1126/science.aar3593 · Cited by 2,301
“The distribution of tumor mutational signatures across the study cohorts largely reflected recognized cancer subtype–dependent determinants of mutagenesis (17) (table S3 and fig.”
Schulze, K., Imbeaud, S., Letouzé, E., Alexandrov, L. B., Calderaro, J., Rebouissou, S., Couchy, G., Meiller, C., Shinde, J., Soysouvanh, F., et al. (2015) · Nature Genetics · doi:10.1038/ng.3252 · Cited by 1,803
Self-citationEndogenous DNA damage as a source of genomic instability in cancer
Tubbs, A., & Nussenzweig, A. (2017) · Cell · doi:10.1016/j.cell.2017.01.002 · Cited by 1,452
Metadata
- Authors
- Alexandrov, L. B., & Stratton, M. R.
- Affiliations
- Wellcome Sanger Institute (GB)
- Corresponding author
- Alexandrov, Ludmil B
- Venue
- Current Opinion in Genetics & Development
- Publisher
- Elsevier BV
- Published
- 2014-02
- Volume
- 24
- Pages
- 52-60
- ISSN
- 0959-437X (ISSN-L)
- 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
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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