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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]
In the citing paper
“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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Cites
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Learning the parts of objects by non-negative matrix factorization
Lee, D. D., & Seung, H. S. (1999) · Nature · doi:10.1038/44565 · Cited by 14,137
Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid
WATSON, J. D., & CRICK, F. H. C. (1953) · Nature · doi:10.1038/171737a0 · Cited by 13,584
Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660
Self-citationComprehensive molecular characterization of human colon and rectal cancer
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11252 · Cited by 8,499
p53 Mutations in Human Cancers
Hollstein, M., Sidransky, D., Vogelstein, B., & Harris, C. C. (1991) · Science · doi:10.1126/science.1905840 · Cited by 8,018
An Integrated Genomic Analysis of Human Glioblastoma Multiforme
Parsons, D. W., Jones, S., Zhang, X., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Siu, I.-M., Gallia, G. L., et al. (2008) · Science · doi:10.1126/science.1164382 · Cited by 5,857
Integrated genomic characterization of endometrial carcinoma
The Cancer Genome Atlas Research Network, & Levine, D. A. (2013) · Nature · doi:10.1038/nature12113 · Cited by 5,784
Stratton, M. R., Campbell, P. J., & Futreal, P. A. (2009) · Nature · doi:10.1038/nature07943 · Cited by 3,625
Self-citationComprehensive molecular characterization of clear cell renal cell carcinoma
The Cancer Genome Atlas Research Network (2013) · Nature · doi:10.1038/nature12222 · Cited by 3,485
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Items 301–400 of 490
Sarasin, A. R. (2023) · Cancers · doi:10.3390/cancers15102706 · Cited by 9
Lazebnik, T., & Keren, L. S. (2023) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2023.107221 · Cited by 7
Crisafulli, G. (2024) · Cancers · doi:10.3390/cancers16172956 · Cited by 10
“…analysis and linear algebra algorithms that facilitate the interpretation of mutation signatures identi fi ed in cancer genomes [1– class of multivariate analysis and linear algebra algorithms that facilitate the interpretation of mutation signatures identified in cancer genomes [1–4,6].”
BackgroundInfluentialEarly Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum
Fernández–Rozadilla, C., Álvarez-Barona, M., Schamschula, E., Bodo, S., López‐Novo, A., Dacal, A., Calviño-Costas, C., Lancho, A., Amigo, J., Bello, X., et al. (2019) · Cancers · doi:10.3390/cancers11081081 · Cited by 7
“[31], with the help of the MuSiCa software [17].”
Li, Z., Liang, H., Zhang, S., & Luo, W. (2022) · Cancer Medicine · doi:10.1002/cam4.4717 · Cited by 6
Karihtala, P., Kilpivaara, O., & Porvari, K. (2023) · Neoplasia · doi:10.1016/j.neo.2023.100933 · Cited by 7
“Mutational signatures are characteristic patterns of mutations that reflect different carcinogenetic pathways [4].”
BackgroundThe applications of big data in molecular diagnostics
Wong, Y. K. E., Lam, K. W., Ho, K. Y., Yu, A. C.-S., Cho, C. S., Tsang, H. F., Chu, M. K. M., Ng, P. W., Tai, C. S. W., Chan, L., et al. (2019) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2019.1657834 · Cited by 7
Mutagenicity Profile Induced by UVB Light in Human Xeroderma Pigmentosum Group C Cells†
Ruiz, N. Q., Corradi, C., Moreno, N. C., de Souza, T. A., Castro, L. P., Rocha, C. R. R., & Menck, C. F. M. (2021) · Photochemistry and Photobiology · doi:10.1111/php.13516 · Cited by 8
Bonjoch, L., Mur, P., Arnau‐Collell, C., Vargas‐Parra, G., Shamloo, B., Franch‐Expósito, S., Pineda, M., Capellá, G., Erman, B., & Castellvı́-Bel, S. (2019) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2019.03.004 · Cited by 9
“Of note, repair pathway-specific mutational signatures and high mutational burden have been recently described in some tumors as a consequence of the underlying repair defect (Alexandrov and Stratton, 2014; Campbell et al., 2017; Drost et al., 2017; Pilati et al., 2017; Viel et al., 2017).”
BackgroundTazelaar, G. H. P., Hop, P. J., Seelen, M., van Vugt, J. J. F. A., van Rheenen, W., Kool, L., van Eijk, K. R., Gijzen, M., Dooijes, D., Moisse, M., et al. (2022) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2022.11.010 · Cited by 6
Genomic Mosaicism of the Brain: Origin, Impact, and Utility
Graham, J. H., Schlachetzki, J. C. M., Yang, X., & Breuss, M. W. (2023) · Neuroscience Bulletin · doi:10.1007/s12264-023-01124-8 · Cited by 6
“While these concepts have been described in much more detail for various cancers [51, 53–55], they are now an integral part of any mosaicism research.”
BackgroundKarihtala, P., Kilpivaara, O., & Porvari, K. (2024) · International Journal of Cancer · doi:10.1002/ijc.35148 · Cited by 6
Fitzgerald, R. C., & Rhodes, J. M. (2019) · British Journal of Cancer · doi:10.1038/s41416-019-0467-9 · Cited by 6
Biological Evaluation of DNA Biomarkers in a Chemically Defined and Site-Specific Manner
Bian, K., Delaney, J. C., Zhou, X., & Li, D. (2019) · Toxics · doi:10.3390/toxics7020036 · Cited by 6
Zhang, B., Jia, P., Wang, J., Pei, G., Wang, C., Pei, S., Li, X., Zhao, Z., Yi, X., Guan, X., et al. (2022) · Molecular Oncology · doi:10.1002/1878-0261.13360 · Cited by 5
Latent evolutionary signatures: a general framework for analysing music and cultural evolution
Warrell, J., Salichos, L., Gancz, M., & Gerstein, M. (2024) · Journal of The Royal Society Interface · doi:10.1098/rsif.2023.0647 · Cited by 6
“We are influenced here by recent work in evolutionary genomics, which has shown that it is possible to extract signatures of mutational processes from cancer genomics data [7,8], allowing latent factors to be inferred which are responsible for a cancer ’ s growth [6 – 8, 37, 38] ( figure 1).”
BackgroundGouda, N., Shiwa, Y., Akashi, M., Yoshikawa, H., Kasahara, K., & Furusawa, M. (2016) · Genes to Cells · doi:10.1111/gtc.12344 · Cited by 6
“Other reasons of the nonuniform distributions of spontaneous mutations were pointed out, such as diverse mutational processes (Alexandrov & Stratton 2014), repair mechanisms (Ciccia & Elledge 2010) and selection pressures (Pollard et al. 2006; Lindblad-Toh et al. 2011).”
BackgroundImproving the genetic signature of prostate cancer, the somatic mutations
Martínez-González, L. J., Geler, M. P., Robles‐Fernandez, I., Cózar, J. M., Lorente, J. A., & Álvarez-Cubero, M. J. (2018) · Urologic Oncology Seminars and Original Investigations · doi:10.1016/j.urolonc.2018.03.012 · Cited by 6
Assessing the contribution of tumor mutational phenotypes to cancer progression risk
Tao, Y., Rajaraman, A., Cui, X., Cui, Z., Chen, H., Zhao, Y., Eaton, J., Kim, H., Ma, J., & Schwartz, R. S. (2021) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1008777 · Cited by 6
Rogozin, I. B., Roche-Lima, A., Tyryshkin, K., Carrasquillo-Carrión, K., Lada, A. G., Poliakov, L. Y., Schwartz, E., Saura, A., Yurchenko, V., Cooper, D. N., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.671866 · Cited by 6
Computational Models for Cancer Phylogenetics
Schwartz, R. S. (2019) · Computational biology · doi:10.1007/978-3-030-10837-3_11 · Cited by 5
Kim, Y.-A., Wójtowicz, D., Basso, R. S., Sason, I., Robinson, W., Hochbaum, D. S., Leiserson, M. D. M., Sharan, R., Vandin, F., & Przytycka, T. M. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/568568 · Cited by 6
Explainable AI Model Reveals Informative Mutational Signatures for Cancer-Type Classification
Wagner, J., Oldenburg, J., Nath, N., & Simm, S. (2025) · Cancers · doi:10.3390/cancers17111731 · Cited by 5
“These mutational signatures are characteristic patterns that can be used to obtain insights into DNA damage caused by endogenous and exogenous mutagens, as well as the affected DNA repair and copy mechanisms [18].”
Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
de Voer, R. M., & Valle, L. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02046-5 · Cited by 5
“Mutations arising from a particular mutagenic process can be identi fi ed as mutational signatures, which are de fi ned by distinct patterns of base substitutions, insertions, deletions, and structural variants and their sequence context [3, 31].”
Mycotoxin Exposure and Renal Cell Carcinoma Risk: An Association Study in the EPIC European Cohort
Claeys, L., Saeger, S. D., Scélo, G., Biessy, C., Casagrande, C., Nicolas, G., Korenjak, M., Fervers, B., Heath, A. K., Krogh, V., et al. (2022) · Nutrients · doi:10.3390/nu14173581 · Cited by 5
“Cancer genomics has the potential to causally link exogenous exposures or endogenous mechanisms to individual tumors via the identification of mutational signatures underlying these processes [51,65,66].”
BackgroundTP53 mutation status and consensus molecular subtypes of colorectal cancer in patients from Rwanda
Nzitakera, A., Uwamariya, D., Kato, H., Surwumwe, J. B., Mbonigaba, A., Ndoricyimpaye, E. L., Uwamungu, S., Manirakiza, F., Ndayisaba, M. C., Ntakirutimana, G., et al. (2024) · BMC Cancer · doi:10.1186/s12885-024-13009-8 · Cited by 5
“The most frequent TP53 base change in all cancers is C > T, with 20% of these mutations occurring at CpG sites and most are associated with cytosine to uracil deamination [19, 20].”
BackgroundZhou, Y., Shen, L., Hu, Y., Xu, X., Cui, J., Li, S. C., Li, Z., Ji, J., & Xing, R. (2024) · The Journal of Pathology · doi:10.1002/path.6297 · Cited by 5
“Somaticmutations in cancer are caused by multiple mutational processes, each of which generates a characteristic mutational signature [25].”
BackgroundPutative RNA-directed adaptive mutations in cancer evolution
Auboeuf, D. (2016) · Transcription · doi:10.1080/21541264.2016.1221491 · Cited by 4
“In this context, sequencing of billions of bases from tumor samples led to the recent discovery of cancer-type specific “mutational signatures” demonstrating that the appearance of mutations is context dependent and that some regions of the genome have a higher propensity for sequence changes.(25-27) As detailed in BO…”
BackgroundInfluentialKim, Y., Shiba‐Ishii, A., Ramirez, K., Muratani, M., Sakamoto, N., Iijima, T., & Noguchi, M. (2019) · Cancer Science · doi:10.1111/cas.14081 · Cited by 5
Contribution of cytosine desaminases of AID/APOBEC family to carcinogenesis
Zotova, I. V., Stepchenkova, E. I., & Pavlov, Y. I. (2019) · Biological Communications · doi:10.21638/spbu03.2019.203 · Cited by 5
“About 30 signatures of various mutational processes have now been identified in cancer genomes, two of them (no. 2 and no. 13) belong to the APOBEC family deaminases, (Nik-Zainal et al., 2012; Alexandrov et al., 2013; Alexandrov and Stratton, 2014).”
BackgroundMatsutani, T., & Hamada, M. (2020) · Genes · doi:10.3390/genes11101127 · Cited by 5
Genomic evolutionary trajectory of metastatic squamous cell carcinoma of the lung
Krause, A., Roma, L., Lorber, T., Dietsche, T., Perrina, V., Müller, D. C., Lardinois, D., Ruiz, C. F., Prince, S. S., Piscuoglio, S., et al. (2021) · Translational Lung Cancer Research · doi:10.21037/tlcr-21-48 · Cited by 5
“Somatic mutations in cancers are caused by different mutational processes that generate a characteristic mutational signature (45).”
Sequence Neighborhoods Enable Reliable Prediction of Pathogenic Mutations in Cancer Genomes
Banerjee, S., Raman, K., & Ravindran, B. (2021) · Cancers · doi:10.3390/cancers13102366 · Cited by 5
“Several studies have demonstrated that certain factors such as tobacco smoking, UV light, or the inactivation of tumor suppressor genes involved in DNA repair can result in the development of mutational hotspots [31], [34], [36] .”
BackgroundHutchins, J. R. A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-817819-5.00004-8 · Cited by 5
Mutational Signatures Associate With Survival in Gastrointestinal Carcinomas
Karihtala, P., Porvari, K., & Kilpivaara, O. (2022) · Cancer Genomics & Proteomics · doi:10.21873/cgp.20340 · Cited by 5
Update Breast Cancer 2022 Part 6 – Advanced-Stage Breast Cancer
Lüftner, D., Lux, M. P., Fehm, T. N., Welslau, M., Müller, V., Schütz, F., Fasching, P. A., Janni, W., Thomssen, C., Witzel, I., et al. (2023) · Geburtshilfe und Frauenheilkunde · doi:10.1055/a-2018-9184 · Cited by 5
“1 Model example of the development of mutational profiles (data from [30], creative commons license CC BY, https://creativecommons.”
Nagahashi, M., Ling, Y., Toshikawa, C., Hayashida, T., Kitagawa, Y., Futamura, M., Kuwayama, T., Nakamura, S., Yamauchi, H., Yamauchi, T., et al. (2023) · Breast Cancer · doi:10.1007/s12282-023-01449-2 · Cited by 5
Vail, D. M., Thamm, D. H., & Liptak, J. M. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-59496-7.00001-3 · Cited by 6
An alternative model for (breast) cancer predisposition
Teugels, E., & Brakeleer, S. D. (2017) · npj Breast Cancer · doi:10.1038/s41523-017-0017-7 · Cited by 5
APOBEC shapes tumor evolution and age at onset of lung cancer in smokersPreprint
Zhang, T., Sang, J., Hoang, P. H., Zhao, W., Rosenbaum, J., Johnson, K. E., Klimczak, L. J., McElderry, J. P., Klein, A., Wirth, C., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.04.02.587805 · Cited by 5
“Mutational signature analysis has been widely used to reveal the mutagenic processes in cancer genomic studies 4,11,12 .”
MethodSelf-citationWhat sets the mutation rate of a cell type in an animal species?
de Manuel, M., Przeworski, M., Spisak, N., & Stolyarova, A. V. (2026) · PLoS Biology · doi:10.1371/journal.pbio.3003799 · Cited by 8
“In humans and other species with dedicated germlines, somatic mutations are restricted to a subset of tissues or cells; while most are inconsequential, some drive cancer and contribute to the aging process [3,4].”
UVA-light-induced mutagenesis in the exome of human nucleotide excision repair-deficient cells
Ruiz, N. Q., Corradi, C., Moreno, N. C., de Souza, T. A., & Menck, C. F. M. (2025) · Photochemical & Photobiological Sciences · doi:10.1007/s43630-025-00697-9 · Cited by 5
“…of next-generation sequencing (NGS) technology [63, 64], we can now investigate base substitutions across the entire exome or genome, offering a more comprehensive view of UVA’s effects on cells and avoiding biases that arise from analyzing only specific genes that may be under selection [65].”
InfluentialWellman, R., Jacobson, D. H., Secrier, M., & Labbadia, J. P. (2024) · Scientific Reports · doi:10.1038/s41598-023-50640-0 · Cited by 4
Thomas, C. E., Georgeson, P., Qu, C., Steinfelder, R. S., Buchanan, D. D., Song, M., Harrison, T. A., Um, C. Y., Hullar, M. A. J., Jenkins, M. A., et al. (2024) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-23-0600 · Cited by 4
Shared and unique mutational gene co-occurrences in cancers
Liu, J., Zhao, D., & Fan, R. (2015) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2015.08.086 · Cited by 4
Somatic genome alterations in relation to age in lung adenocarcinoma
Meucci, S., Keilholz, U., Heim, D., Klauschen, F., & Cacciatore, S. (2019) · International Journal of Cancer · doi:10.1002/ijc.32265 · Cited by 4
Characterizing genomic differences of human cancer stratified by the TP53 mutation status
Wang, M., Yang, C., Zhang, X., & Li, X. (2018) · Molecular Genetics and Genomics · doi:10.1007/s00438-018-1416-7 · Cited by 4
Genomic analyses reveal SCN7A is associated with the prognosis of esophageal squamous cell carcinoma
Yuan, P., Rao, W., Lin, Z., Liu, S., Lin, X., Wu, C., Lin, X., Hu, Z., & Ye, W. (2022) · Esophagus · doi:10.1007/s10388-021-00898-y · Cited by 5
“Genomic DNA was fragmented using NEBNext dsDNA Fragmentase (NEB, Ipswich, MA, USA), followed by DNA ends repairing.”
BackgroundInfluentialSARS-CoV-2’s evolutionary capacity is mostly driven by host antiviral moleculesPreprint
Lamb, K. D., Luka, M. M., Saathoff, M., Orton, R. J., Phan, M. V. T., Cotten, M. L., Yuan, K., & Robertson, D. L. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.04.07.536037 · Cited by 4
“Viral mutations arise from a diverse set of processes (viral polymerase replication errors mistakes, host anti-viral editing processes, etc.) which can be identified by the characteristic mutational signatures that they leave on the genome [17, 18].”
Guan, Z., Begg, C. B., & Shen, R. (2023) · Cancer Research Communications · doi:10.1158/2767-9764.crc-22-0355 · Cited by 4
Lawson‐Michod, K. A., Marks, J. R., Collin, L. J., Nix, D. A., Davidson, N. R., Huff, C. D., Yu, Y., Atkinson, A. E., Johnson, C. E., Salas, L. A., et al. (2025) · Cancer Research · doi:10.1158/0008-5472.can-24-1879 · Cited by 3
Somatic genome alterations in relation to age in lung squamous cell carcinoma
Meucci, S., Keilholz, U., Heim, D., Klauschen, F., & Cacciatore, S. (2018) · Oncotarget · doi:10.18632/oncotarget.25848 · Cited by 3
Moss enables high sensitivity single-nucleotide variant calling from multiple bulk DNA tumor samples
Zhang, C., El-Kebir, M., & Ochoa, I. (2021) · Nature Communications · doi:10.1038/s41467-021-22466-9 · Cited by 3
The spectrum of TP53 mutations in Rwandan patients with gastric cancer
Nzitakera, A., Surwumwe, J. B., Ndoricyimpaye, E. L., Uwamungu, S., Uwamariya, D., Manirakiza, F., Ndayisaba, M. C., Ntakirutimana, G., Seminega, B., Dusabejambo, V., et al. (2024) · Genes and Environment · doi:10.1186/s41021-024-00302-y · Cited by 3
“At least 20% of G:C > A:T mutations take place at hypermutable CpG dinucleotides in all cancer types and are mostly associated with cytosine to uracil deamination [10].”
InfluentialJayakrishnan, R., Kwiatkowski, D. J., Rose, M. G., & Nassar, A. H. (2024) · The Oncologist · doi:10.1093/oncolo/oyae091 · Cited by 3
“30 This is of particular importance as certain mutational signatures such as UV-light have a transcriptional strand bias.”
BackgroundMechanisms of Environmental and Occupational Carcinogenesis
Langevin, S. M., & Kelsey, K. T. (2014) · Springer eBooks · doi:10.1007/978-1-4471-2825-0_3 · Cited by 3
Preston, J. L., & Stiffler, N. (2020) · BMC Cancer · doi:10.1186/s12885-020-6616-y · Cited by 3
Improving personalized prediction of cancer prognoses with clonal evolution modelsPreprint
Tao, Y., Rajaraman, A., Cui, X., Cui, Z., Eaton, J., Kim, H., Ma, J., & Schwartz, R. S. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/761510 · Cited by 3
Peroz, M., Mananet, H., Roussot, N., Kaderbhai, C., Derangère, V., Truntzer, C., & Ghiringhelli, F. (2024) · Cancers · doi:10.3390/cancers16173115 · Cited by 1
Analysis of Novel DNA Adducts Derived from Acetaldehyde
Betsuyaku, Y., Motohashi, M., Sassa, A., Takamura‐Enya, T., & Totsuka, Y. (2025) · Biomolecules · doi:10.3390/biom15060878 · Cited by 2
“Whole-genome and exome sequencing analyses of human cancers have identified characteristic mutational profiles in a trinucleotide context, referred to as mutational signatures, across different cancer types [16,17].”
BASCULE: bayesian inference and clustering of mutational signatures leveraging biological priors
Buscaroli, E., Sadr, A., Bergamin, R., Milite, S., Garcia, E. N. V., Tasciotti, A., Ansuini, A., Ramazzotti, D., Calonaci, N., & Caravagna, G. (2025) · Genome biology · doi:10.1186/s13059-025-03835-9 · Cited by 2
“These examples underscore how insights into mutational mechanisms can directly inform therapeutic decisions, advancing precision medicine in oncology [19, 20].”
Prasanna, A., & Niranjan, V. (2021) · Infection Genetics and Evolution · doi:10.1016/j.meegid.2021.104805 · Cited by 2
Nature of spontaneously arising single base substitutions in normal cells
Takeda, S., & Luan, Y. (2021) · Genome Instability & Disease · doi:10.1007/s42764-021-00056-9 · Cited by 2
“1B. Mutational signature reference data are publicly available in the Catalogue of Somatic Mutation In Cancer (COSMIC) database (Alexandrov & Stratton, 2014; Alexandrov et al., 2013; Forbes et al., 2017) (see https:// cancer. sanger. ac. uk/ signa tures/).”
MethodPeng, R., Lin, G., Li, L., & Li, J. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.845636 · Cited by 2
Stosic, M. S., Costanzi, J., Ambur, O. H., & Rounge, T. B. (2025) · Scientific Reports · doi:10.1038/s41598-025-05267-8 · Cited by 2
“In humans, the accumulation of low-frequency mutations, referred to as somatic mutations, has been associated with tumorigenesis 3–5 .”
Hutchins, J. R. A. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-6622-6_10 · Cited by 2
Mutational pattern of PIK3CA exon 20 in circulating DNA in breast cancer
Ibrahim, I. H., El-Aziz, H. G. A., Amer, N. N., & al-samee, H. A. (2022) · Saudi Journal of Biological Sciences · doi:10.1016/j.sjbs.2022.01.002 · Cited by 2
“This is obtained by determining each nucleotide substitution using its immediate sequence context at 50 and 30 ends (Alexandrov and Stratton, 2014).”
BackgroundMethodInfluentialYotsukura, S., Karasuyama, M., Takigawa, I., & Mamitsuka, H. (2016) · Briefings in Bioinformatics · doi:10.1093/bib/bbw040 · Cited by 2
Mutation Clusters from Cancer Exome
Kakushadze, Z., & Yu, W. (2017) · Genes · doi:10.3390/genes8080201 · Cited by 2
“associated with recurrent error-prone 25 For details, see [COSMIC, 2017]. For references, see [Nik-Zainal et al, 2012a], [Alexandrov et al, 2013a], [Alexandrov et al, 2013b], [Helleday et al, 2014], [Alexandrov and Stratton, 2014]. 26 See http://cancer.sanger.ac.uk/cancergenome/assets/signatures probabilities.txt; not…”
BackgroundImpact of mutational signatures on microRNA and their response elements
Stamoulakatou, E., Pinoli, P., Ceri, S., & Piro, R. M. (2019) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789811215636_0023 · Cited by 2
Rare cases of medulloblastoma with hypermutation
Bagchi, A., Beddows, I., Cornelius, A. S., Robinson, G. W., & Jewell, S. D. (2021) · Cancer Reports · doi:10.1002/cnr2.1521 · Cited by 2
“This signature, characterized by C > A substitution in TpCpT and C > T substitutions in the TpCpG context, is specifically associated with loss-of-function mutations in the exonuclease or proofreading domain of POLE.(8) T-1, with a TMB of 39.”
BackgroundMethodInfluentialRacial difference of mutational signature in hepatocellular carcinoma
Zhang, B., & Guan, X. (2021) · Hepatoma Research · doi:10.20517/2394-5079.2021.81 · Cited by 2
Oxidized DNA Base Damage Repair and Transcription
Pramanik, S., Roychoudhury, S., & Bhakat, K. K. (2022) · Springer eBooks · doi:10.1007/978-981-15-9411-3_156 · Cited by 2
Putting into Perspective the Future of Cancer Vaccines: Targeted Immunotherapy
Makhoul, I., & Kieber‐Emmons, T. (2020) · European Medical Journal · doi:10.33590/emj/19-00191 · Cited by 2
Secrier, M., & Fitzgerald, R. C. (2016) · Gastroenterology · doi:10.1053/j.gastro.2016.03.017 · Cited by 2
Genomics of Lynch syndrome and Constitutional mismatch repair deficiency syndrome
Lamola, L. (2018) · Open University of Cape Town (University of Cape Town) · Cited by 2
cis ‐Regulatory Driver Mutations in Cancer Genomes
Poulos, R. C., & Wong, J. W. H. (2017) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0027236 · Cited by 2
Saleem, M., Ahmed, M., Abro, A. A., & Chen, G. (2021) · Acta Scientific Cancer Biology · doi:10.31080/ascb.2021.04.0335 · Cited by 2
Puškarić, S., Sokač, M., & Matić, K. (2024) · doi:10.22541/au.170664664.49880446/v1 · Cited by 2
Perinatal elimination of genetically aberrant human cortical neurons
Shao, D. D., Zhao, Y., Brew, J., Adla, Y., Ghosh, U., Viswanadham, V., Luquette, L. J., Zhao, S., Kriz, A. J., Qian, X., et al. (2026) · Nature · doi:10.1101/2024.10.08.617159 · Cited by 6
“Using mutational signature analysis [37, 38] based on the COSMIC copy number signature catalog [38], we classified the cells into four distinct “signature groups”: Diploid Predominant (COSMIC SigCN1 signature), Gain Predominant (combination of SigCN1 and SigCN2), Focal Loss Predomi-122 nant (SigCN1…”
Human Papillomavirus Carcinogenesis Mediated by APOBEC Mutagenesis
Kukimoto, I. (2018) · YAKUGAKU ZASSHI · doi:10.1248/yakushi.18-00164-3 · Cited by 1
Mutational Signatures in Cancer Genomics and Toxicology
Zhivagui, M., & Zavadil, J. (2025) · Elsevier eBooks · doi:10.1016/b978-0-323-95488-4.00216-3 · Cited by 1
Tobin, R. M., Singh, S., Kumar, S., & Miura, S. (2025) · Frontiers in Bioinformatics · doi:10.3389/fbinf.2025.1615834 · Cited by 1
“Cancer progression is driven by an accumulation of somatic mutations (Pleasance et al., 2010; Alexandrov and Stratton, 2014; Martincorena and Campbell, 2015; Martincorena, 2019).”
Chen, Y.-T., Qi, R., Cai, A., Cho, B. P., & Li, D. (2025) · Chemical Research in Toxicology · doi:10.1021/acs.chemrestox.5c00055 · Cited by 1
Proteogenomic Analysis Identifies Clinically Relevant Subgroups of Collecting Duct Carcinoma
Qu, Y., Pei, X., Feng, J., Yan, X., Zhang, L., Wang, J., Yao, X., Bian, J., Gan, Y., Gan, H., et al. (2025) · Research · doi:10.34133/research.0859 · Cited by 1
“Mutational signatures revealed the somatic mutation patterns hidden in cancer genomes [ 53 ].”
Ohno, M., Takano, N., Hidaka, K., Sasaki, F., Aoki, Y., Nohmi, T., & Tsuzuki, T. (2025) · Genes and Environment · doi:10.1186/s41021-025-00342-y · Cited by 1
“Mutational signature analyses, including single-base substitution (SBS) and insertion-deletion (ID) signatures, classify somatic mutation patterns observed in human cancers into distinct profiles associated with specific mutagenic processes, as previously described by Alexandrov et al. [26].”
Differential roles of Rad18 in repressing carcinogen- and oncogene-driven mutagenesis in vivo
Anand, J. R., Wagner, B. L., Lou, J., Gu, Q., Yang, Y., Droby, G. N., Wu, D., Jena, A., Xie, J., Fedoriw, Y. D., et al. (2026) · NAR Cancer · doi:10.1093/narcan/zcag001 · Cited by 1
Nguyen, P., & Zhivagui, M. (2026) · Briefings in Bioinformatics · doi:10.1093/bib/bbag099 · Cited by 1
Webster, R. J., Williams, A., Marchetti, F., & Yauk, C. L. (2018) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2018.04.004 · Cited by 1
Case Report: Malignant Brain Tumors in Siblings With MSH6 Mutations
Wu, D., Chen, Q., & Chen, J. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.920305 · Cited by 1
“Based on this, the concept of Mutational Signatures has been proposed, which represents the unique set of characteristics of mutational profiles on the genome (25).”
BackgroundFuture Role of Molecular Profiling in Small Breast Samples and Personalised Medicine
Foong, S., Simpson, P. T., Cummings, M. C., & Lakhani, S. R. (2022) · Springer eBooks · doi:10.1007/978-3-031-05532-4_23 · Cited by 1
Effects of omics data combinations on in silico tumor-normal tissue classification
Seok, H.-S., Seok, S. H., & Kim, J. (2015) · Genes & Genomics · doi:10.1007/s13258-015-0281-6 · Cited by 1
“The fact that examining the patterns of somatic mutations is not enough to decipher individual mutational signatures that are operative in each sample (Alexandrov and Stratton 2014) indicates the need for multiplatform-based approach for cancer analysis.”
BackgroundSearching for essential genes in cancer genomes
Pyatnitskiy, M. A., Karpov, D. S., & Moshkovskii, S. A. (2018) · Biomeditsinskaya Khimiya · doi:10.18097/pbmc20186404303 · Cited by 1
Deleterious Impact of Mutational Processes on Transcription Factor Binding Sites in Human Cancer
Pinoli, P., Stamoulakatou, E., Ceri, S., & Piro, R. M. (2019) · IEEE International Conference on Bioinformatics and Bioengineering (BIBE) · doi:10.1109/bibe.2019.00041 · Cited by 1
“The somatic mutations observed in a tumor genome often stem from multiple mutational processes, including intrinsic processes such as the spontaneous deamination of 5methylcytosine and carinogens like cigarette smoke or UV light [1].”
BackgroundMutationssignaturen beim Kopf- und Hals-Tumor
Plath, M. M., Hess, J., & Zaoui, K. (2020) · HNO · doi:10.1007/s00106-020-00954-6 · Cited by 1
Mechanisms of Environmental and Occupational Carcinogenesis
Langevin, S. M., & Kelsey, K. T. (2020) · Springer eBooks · doi:10.1007/978-3-030-30766-0_3 · Cited by 1
Wilmott, J. S., Hayward, N. K., Mann, G. J., & Scolyer, R. A. (2017) · Melanoma Management · doi:10.2217/mmt-2017-0008 · Cited by 1
*K-means and Cluster Models for Cancer SignaturesPreprint
Kakushadze, Z., & Yu, W. (2017) · RePEc: Research Papers in Economics · doi:10.48550/arxiv.1703.00703 · Cited by 1
Most cancers carry a substantial deleterious load due to Hill-Robertson interferencePreprint
McFarland, C. D., Tilk, S., Curtis, C. N., & Petrov, D. A. (2020) · Research Square · doi:10.21203/rs.3.rs-90804/v1 · Cited by 1
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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