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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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“These signatures consist of somatic mutations, including substitutions and copy number variations, that are consistently observed in certain processes [34, 35].”
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“define these characteristic changes as “mutational signatures” (17-19).”
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“These mutations are consistent with the observed enrichment of C!T and CC!TT mutations in ultraviolet exposure-driven melanoma tumours [42].”
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“…Catalog of natural mutations in cancer (COSMIC) summarizes the 30 published mutation signatures of cancers (Alexandrov et al., 2013a, 2013b, 2015; Alexandrov and Stratton, 2014; Helleday et al., 2014; Nik-Zainal et al., 2012, 2016). we performed COSMIC on the mutation frequency of our samples…”
BackgroundZhang, J., Croft, J., & Le, A. (2023) · Journal of Personalized Medicine · doi:10.3390/jpm13040673 · Cited by 11
Kleszcz, R. (2023) · Cancers · doi:10.3390/cancers15174247 · Cited by 10
Sundar, R., Jain, M. R., & Valani, D. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-809252-1.00010-9 · Cited by 10
Gaining insights into relevance across cancers based on mutation features of TP53 gene
Mei, Y., Liang, D., Wang, T., & Yu, D. S. (2021) · Biochemistry and Biophysics Reports · doi:10.1016/j.bbrep.2021.101165 · Cited by 10
“The TP53 spectrum of skin carcinomas displays the enrichment of mutations in C:G > T:A and CC:GG > TT:AA [11].”
BackgroundSiraj, S., Masoodi, T., Siraj, A. K., Azam, S., Qadri, Z., Parvathareddy, S. K., Bu, R., Siddiqui, K. S., Al-Sobhi, S. S., Aldawish, M., et al. (2022) · Cancers · doi:10.3390/cancers14061584 · Cited by 10
Fléchon, A., Morales‐Barrera, R., Powles, T. B., Alva, A. S., Özgüroğlu, M., Csőszi, T., Loriot, Y., Rodríguez‐Vida, A., Géczi, L., Cheng, S. Y.-S., et al. (2024) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-23-3518 · Cited by 9
A double-stranded DNA catalyzed strand displacement system for detection of small genetic variations
Liu, N., Zhang, X., Tang, X., Liu, Y., Huang, D., & Xiao, X. (2020) · Chemical Communications · doi:10.1039/d0cc06216b · Cited by 9
Yeh, Y., Ho, H., Lin, C.-I., Chou, T., & Wang, Y. (2021) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000001722 · Cited by 9
Germline Mutations and Their Clinical Applications in Cancer
Milanese, J., & Wang, E. (2019) · Breast Cancer Management · doi:10.2217/bmt-2019-0005 · Cited by 9
Mutational profiling of micro-dissected pre-malignant lesions from archived specimens
Nachmanson, D., Steward, J., Yao, H., Officer, A., Jeong, E., O’Keefe, T. J., Hasteh, F., Jepsen, K., Hirst, G. L., Esserman, L. J., et al. (2020) · BMC Medical Genomics · doi:10.1186/s12920-020-00820-y · Cited by 8
“mutations and mutational signatures [72].”
Kumar, S., Buon, L., Talluri, S., Roncador, M., Liao, C., Zhao, J., Shi, J., Chakraborty, C., González, G., Tai, Y., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02125-x · Cited by 9
The Landscape of Genetic Alterations Stratified Prognosis in Oriental Pancreatic Cancer Patients
Guo, S., Shi, X., Gao, S., Hou, Q., Jiang, L., Li, B., Shen, J., Wang, H., Shen, S., Zhang, G., et al. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.717989 · Cited by 9
“The pattern of the mutation signature was distributed into six substitution classes, and the bases immediately 5′ and 3′ of the mutated base produced 96 possible mutation subtypes (26, 27).”
BackgroundShang, Z., Wu, X., Zheng, S., Wei, Y., Zhe, H., & Ye, D. (2023) · Journal of Cancer · doi:10.7150/jca.86742 · Cited by 8
“Although an increasing number of studies have examined the relationship between gene mutation and the progression of human cancers [28], only a few alterations have been found to markedly influence cancer progression [29].”
BackgroundAbbar, B., Labrèche, K., Cadranel, J. L., Veyri, M., Morin, V., Thiam, F. S., Désiré, N., Baron, M., Guillerm, E., Perrier, A., et al. (2025) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2025.02.001 · Cited by 11
Wu, H.-T., Chen, W., Chen, W.-J., Li, C., & Liu, J. (2021) · Translational Cancer Research · doi:10.21037/tcr-20-3382 · Cited by 8
Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants
Sèlves, J., Gloria, H. D. C. E., Brunac, A., Saffi, J., Guimbaud, R., Brousset, P., & Hoffmann, J. (2023) · Life Science Alliance · doi:10.26508/lsa.202302290 · Cited by 8
“…10b (C>T-TCG), and 28 (T>G-TTT) (Cancer Genome Atlas Network, 2012; Alexandrov et al, 2013; Cancer Genome Atlas Research Network et al, 2013; Alexandrov & Stratton, 2014; Shinbrot et al, 2014; Campbell et al, 2017; Haradhvala et al, 2018), as well as double-base substitution DBS3 signature…”
BackgroundMutations in cancer-relevant genes are ubiquitous in histologically normal endometrial tissue
Pandya, D. S., Tomita, S., Padron-Rhenals, M., Swierczek, S. I., Reid, K., Camacho‐Vanegas, O., Camacho, C., Engelman, K., Polukort, S., RoseFigura, J. M., et al. (2024) · Gynecologic Oncology · doi:10.1016/j.ygyno.2024.02.027 · Cited by 8
Schneeweiss, A., Brucker, S. Y., Huebner, H., Volmer, L. L., Hack, C. C., Seitz, K., Ruebner, M., Heublein, S., Thewes, V., Lüftner, D., et al. (2024) · Geburtshilfe und Frauenheilkunde · doi:10.1055/a-2286-6066 · Cited by 8
Germline genetic variants were interactively associated with somatic alterations in gastric cancer
Zhang, X., Wang, Y., Tian, T., Zhou, G., & Jin, G. (2018) · Cancer Medicine · doi:10.1002/cam4.1612 · Cited by 7
Relation between DNA ionization potentials, single base substitutions and pathogenic variants
Pucci, F., & Rooman, M. J. (2019) · BMC Genomics · doi:10.1186/s12864-019-5867-y · Cited by 8
Wang, K., Li, L., Franch‐Expósito, S., Le, X., Tang, J., Li, Q., Wu, Q., Bassaganyas, L., Camps, J., Zhang, X., et al. (2021) · Molecular Oncology · doi:10.1002/1878-0261.13043 · Cited by 8
APOBEC mediated mutagenesis drives genomic heterogeneity in endometriosis
Revathidevi, S., Nakaoka, H., Suda, K., Fujito, N. T., Munirajan, A. K., Yoshihara, K., Enomoto, T., & Inoue, I. (2022) · Journal of Human Genetics · doi:10.1038/s10038-021-01003-y · Cited by 9
Talreja, V. T., Noronha, V., Joshi, A., Patil, V., & Prabhash, K. (2019) · South Asian Journal of Cancer · doi:10.4103/sajc.sajc_157_19 · Cited by 8
“Beyond ERCC1, DDR defects leading to platinum sensitivity widely overlap with those underlying PARPi sensitivity.[3,4] Here, we report a case of 47‐year‐old doctor with no known comorbidites and family history of ovarian cancer in mother at 63 years and unknown primary squamous cell carcinoma with submandibular lymph…”
Zhang, J., Liu, J. J., Lee, D., Feng, J.-J., Lochovsky, L., Lou, S., Rutenberg-Schoenberg, M., & Gerstein, M. (2020) · Genome biology · doi:10.1186/s13059-020-01979-4 · Cited by 9
Freischel, A. R., Teer, J. K., Luddy, K. A., Cunningham, J. J., Artzy‐Randrup, Y., Epstein, T., Tsai, K. Y., Berglund, A., Cleveland, J. L., Gillies, R. J., et al. (2022) · Cancers · doi:10.3390/cancers15010018 · Cited by 7
Pérez‐Montiel, D., Cerrato-Izaguirre, D., Sánchez-Pérez, Y., Díaz‐Chávez, J., Cortés-González, C. C., Rubio, J. A., Jiménez-Ríos, M. Á., Herrera, L. A., Scavuzzo, A., Meneses-García, A. A., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24021092 · Cited by 7
Wang, L., Saeedi, B. J., Mahdi, Z. K., Krasinskas, A. M., & Robinson, B. S. (2023) · Modern Pathology · doi:10.1016/j.modpat.2022.100014 · Cited by 7
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
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