Understanding mutagenesis through delineation of mutational signatures in human cancer
Open accessAbstract
Each individual cell within a human body acquires a certain number of somatic mutations during a course of its lifetime. These mutations originate from a wide spectra of both endogenous and exogenous mutational processes that leave distinct patterns of mutations, termed mutational signatures, embedded within the genomes of all cells. In recent years, the vast amount of data produced by sequencing of cancer genomes was coupled with novel mathematical models and computational tools to generate the first comprehensive map of mutational signatures in human cancer. Up to date, >30 distinct mutational signatures have been identified, and etiologies have been proposed for many of them. This review provides a brief historical background on examination of mutational patterns in human cancer, summarizes the knowledge accumulated since introducing the concept of mutational signatures and discusses their future potential applications and perspectives within the field.
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In MM, SBS9 was strongly linked with Q61H.
“In MM, SBS9, associated with mutations introduced by polymerase η repair of activation-induced deaminase (AID) activity26,31,32, was strongly linked with Q61H”
From The origins and genetic interactions of KRAS mutations are allele- and tissue-specific (2021) · cites this paper as [32]
The pol η mutational signature known as Signature 9 occurs in chronic lymphocytic leukemia and malignant B-cell lymphoma genomes.
“It has also been noted that the 'pol h mutational signature' (Signature 9; http://cancer.sanger.ac.uk/cosmic/sig natures) occurs in chronic lymphocytic leukemia and malignant Bcell lymphoma genomes 6,26,27 .”
From DNA polymerase <b>η</b> mutational signatures are found in a variety of different types of cancer (2018) · cites this paper as [26]
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The repertoire of mutational signatures in human cancer
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Self-citationThe origins and genetic interactions of KRAS mutations are allele- and tissue-specific
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DNA polymerase <b>η</b> mutational signatures are found in a variety of different types of cancer
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- Authors
- Petljak, M., & Alexandrov, L. B.
- Affiliations
- Wellcome Sanger Institute (GB)
- Los Alamos National Laboratory (US)
- Venue
- Carcinogenesis
- Publisher
- Oxford University Press (OUP)
- Published
- 2016-05-04
- Volume
- 37
- Issue
- 6
- Pages
- 531-540
- ISSN
- 0143-3334 (ISSN-L)
- 1460-2180
- OpenAlex
- W2345503748
- Cited by
- 110
- References
- 114
- Citations by year
- 2026: 6 · 2025: 5 · 2024: 10 · 2023: 8 · 2022: 7 · 2021: 12 · 2020: 13 · 2019: 19 · 2018: 12 · 2017: 13 · 2016: 4 · 2015: 1
- FWCI
- 1.46
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Carcinogenesis (publishedVersion)
- PubMed (publishedVersion)
- OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- U.S. Department of Energy
- National Nuclear Security Administration
- Los Alamos National Laboratory
- 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, mutagenesis, human cancer, cancer genomics, mutation patterns
- MeSH terms
- Humans, Mutation, Neoplasms, Genome, Human, Mutagenesis
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