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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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Mutational signatures and mutable motifs in cancer genomes
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Eaton, J., Wang, J., & Schwartz, R. S. (2018) · Bioinformatics · doi:10.1093/bioinformatics/bty270 · Cited by 48
“More recently, attention has shifted to understanding what one can learn even from passengers regarding how a particular tumor’s mutational spectrum (Alexandrov and Stratton, 2014) shapes its genome across stages of progression and how that knowledge can predict its future progression and help improve prognosis.”
BackgroundDNA Damage Repair Deficiency in Prostate Cancer
Burdak‐Rothkamm, S., Mansour, W. Y., & Rothkamm, K. (2020) · Trends in cancer · doi:10.1016/j.trecan.2020.05.011 · Cited by 53
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Jarvis, M. C., Ebrahimi, D., Temiz, N. A., & Harris, R. S. (2018) · JNCI Cancer Spectrum · doi:10.1093/jncics/pky002 · Cited by 50
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations
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DNA damage and its links to neuronal aging and degeneration
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Fedeles, B. I., & Essigmann, J. M. (2018) · DNA repair · doi:10.1016/j.dnarep.2018.08.008 · Cited by 49
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“SBS3 has broad trinucleotide context-preference, typically associated with impaired DNA double-strand break-repair pathway, but the etiology of SBS12 and SBS28 are unknown (45,46).”
BackgroundDNA damage and somatic mutations in mammalian cells after irradiation with a nail polish dryer
Zhivagui, M., Hoda, A., Valenzuela, N., Yeh, Y.-Y., Dai, J., He, Y., Nandi, S. P., Otlu, B., Houten, B. V., & Alexandrov, L. B. (2023) · Nature Communications · doi:10.1038/s41467-023-35876-8 · Cited by 45
Self-citationCatanese, A., Rajkumar, S., Sommer, D., Masrori, P., Hersmus, N., Damme, P. V., Witzel, S., Ludolph, A. C., Ho, R., Boeckers, T. M., et al. (2023) · Brain · doi:10.1093/brain/awad075 · Cited by 44
“21 Somatic signatures were generated according to previously described methodologies 6-22 by looking at six different types of mutations and their 16 (4 × 4) possible flanking base combinations at the 5 ′ and 3 ′ .”
The role of the RAS pathway in iAMP21-ALL
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Mutational Signatures Indicative of Environmental Stress in Bacteria
Maharjan, R. P., & Ferenci, T. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu306 · Cited by 43
Breast Cancer Heterogeneity in Primary and Metastatic Disease
Kalinowski, L., Saunus, J. M., Reed, A. E. M., & Lakhani, S. R. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-20301-6_6 · Cited by 47
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“However, just a few alterations significantly impact cancer progression, while the rest of the mutations are trivial (Alexandrov and Stratton 2014).”
BackgroundTracing Lung Cancer Risk Factors Through Mutational Signatures in Never-Smokers
Landi, M. T., Synnott, N. C., Rosenbaum, J., Zhang, T., Zhu, B., Shi, J., Wei, Z., Kebede, M., Sang, J., Choi, J., et al. (2020) · American Journal of Epidemiology · doi:10.1093/aje/kwaa234 · Cited by 41
“Throughout life, somatic cells acquire mutations, many of which occur well before the development of cancer (30).”
BackgroundSelf-citationEthanol-Induced Cell Damage Can Result in the Development of Oral Tumors
Hoes, L., Dok, R., Verstrepen, K. J., & Nuyts, S. (2021) · Cancers · doi:10.3390/cancers13153846 · Cited by 38
“Therefore, studying mutational signatures can help to obtain more insight into the molecular mechanisms active during tumorigenesis [192,193].”
BackgroundMeng, F., Zhang, L., Ren, Y., & Ma, Q. (2018) · Journal of Cellular Physiology · doi:10.1002/jcp.27917 · Cited by 40
“Another two common signatures are Signature 13, which was related with the AID/APOBEC family and participated in the conversion from cytosine to uracil, and Signature 24, which was associated with aflatoxin exposure (Alexandrov & Stratton, 2014).”
BackgroundMethodDegtyareva, N. P., Saini, N., Sterling, J. F., Placentra, V. C., Klimczak, L. J., Gordenin, D. A., & Doetsch, P. W. (2019) · PLoS Biology · doi:10.1371/journal.pbio.3000263 · Cited by 37
Using sigLASSO to optimize cancer mutation signatures jointly with sampling likelihood
Li, S., Crawford, F. W., & Gerstein, M. (2020) · Nature Communications · doi:10.1038/s41467-020-17388-x · Cited by 38
DNA polymerase η mutational signatures are found in a variety of different types of cancer
Rogozin, I. B., Goncearenco, A., Lada, A. G., De, S., Yurchenko, V., Nudelman, G., Panchenko, A. R., Cooper, D. N., & Pavlov, Y. I. (2018) · Cell Cycle · doi:10.1080/15384101.2017.1404208 · Cited by 39
“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) where the pol h signature, “Signature 9”, was detected in chronic lymphocytic leukemia and malignant B-cell lymphoma genomes.”
ResultHsu, D. J., Gao, J., Yamaguchi, N., Pinzaru, A. M., Wu, Q., Nandan, M. O., Liberti, M. V., Heissel, S., Alwaseem, H., Tavazoie, S., et al. (2023) · Science Advances · doi:10.1126/sciadv.ade9120 · Cited by 39
“Mutational processes have been shown to act more frequently at specific nucleotides based on their surrounding contexts ( 3 , 4 ).”
Juul, M., Bertl, J., Guo, Q., Nielsen, M. M., Świtnicki, M., Hornshøj, H., Madsen, T. L., Hobolth, A., & Pedersen, J. S. (2017) · eLife · doi:10.7554/elife.21778 · Cited by 36
Adoptive T Cell Therapy for Solid Tumors: Pathway to Personalized Standard of Care
Qin, S. S., Melucci, A. D., Chacon, A. C., & Prieto, P. A. (2021) · Cells · doi:10.3390/cells10040808 · Cited by 41
Human Variation in DNA Repair, Immune Function, and Cancer Risk
Cheong, A. W. Y., & Nagel, Z. D. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.899574 · Cited by 38
“org 2 the DNA repair pathways increase the frequency of specific types of mutations in the genome (3) (Figure 1).”
BackgroundSpatial and temporal cancer evolution: causes and consequences of tumour diversity
Hiley, C. T., & Swanton, C. (2014) · Clinical Medicine · doi:10.7861/clinmedicine.14-6-s33 · Cited by 39
How the environment shapes cancer genomes
Pfeifer, G. P. (2014) · Current Opinion in Oncology · doi:10.1097/cco.0000000000000152 · Cited by 38
Dzobo, K., Rowe, A., Senthebane, D. A., AlMazyadi, M., Patten, V. A., & Parker, M. I. (2018) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2018.0172 · Cited by 37
“Three-dimensional organoids, tumor evolution, and heterogeneity Cancer is a disorder of aberrant genetic programming and this has led to the search for acquired somatic mutations (Alexandrov and Stratton, 2014; Watson et al., 2013).”
Unraveling most abundant mutational signatures in head and neck cancer
Plath, M., Gass, J., Hlevnjak, M., Li, Q., Feng, B., Hostench, X. P., Bieg, M., Schroeder, L., Holzinger, D., Zapatka, M., et al. (2020) · International Journal of Cancer · doi:10.1002/ijc.33297 · Cited by 36
“However, it is worth noting that most individual cancer genomes exhibit more than one mutational signature and many different combinations of signatures were observed.(14) In addition, global gene expression and DNA methylome profiling analysis elucidated distinct HNSCC subgroups with characteristic features concernin…”
BackgroundEstablishing Linkages Among DNA Damage, Mutagenesis, and Genetic Diseases
Basu, A. K., & Essigmann, J. M. (2022) · Chemical Research in Toxicology · doi:10.1021/acs.chemrestox.2c00155 · Cited by 36
Hodel, K. P., de Borja, R., Henninger, E. E., Campbell, B. B., Ungerleider, N., Light, N. D., Wu, T., LeCompte, K. G., Goksenin, A. Y., Bunnell, B. A., et al. (2018) · eLife · doi:10.7554/elife.32692 · Cited by 35
“These hotspots are seen in Pol e tumors from patients with bMMRD (Shlien et al., 2015), colorectal and endometrial cancer (Alexandrov and Stratton, 2014; Cancer Genome Atlas Network, 2012; Kandoth et al., 2013; Shinbrot et al., 2014), as well as in the Pol e-P286R HCC2998 cells (Figure 2—figure…”
BackgroundLooking beyond drivers and passengers in cancer genome sequencing data
De, S., & Ganesan, S. (2016) · Annals of Oncology · doi:10.1093/annonc/mdw677 · Cited by 36
“Furthermore, strand-bias in substitution patterns in coding regions identified transcription-coupled repair as an important source of somatic mutations [27, 37].”
Baker, K. T., Nachmanson, D., Kumar, S., Emond, M. J., Ussakli, C., Brentnall, T. A., Kennedy, S. R., & Risques, R. A. (2018) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-18-0520 · Cited by 37
“This analysis generates 96 possible mutational events (six substitutions 16 flanking nucleotide combinations) and has been extensively used to elucidate mutagenic processes in both nuclear and mitochondrial tumor DNA (6, 7, 30).”
BackgroundUnderstanding the origins of human cancer
Alexandrov, L. B. (2015) · Science · doi:10.1126/science.aad7363 · Cited by 35
Self-citationGenerating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator
Bergstrom, E. N., Barnes, M. D., Martincorena, I., & Alexandrov, L. B. (2020) · BMC Bioinformatics · doi:10.1186/s12859-020-03772-3 · Cited by 34
Self-citationRogozin, I. B., Lada, A. G., Goncearenco, A., Green, M. R., De, S., Nudelman, G., Panchenko, A. R., Koonin, E. V., & Pavlov, Y. I. (2016) · Scientific Reports · doi:10.1038/srep38133 · Cited by 33
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Unravelling roles of error-prone DNA polymerases in shaping cancer genomes
Vaziri, C., Rogozin, I. B., Gu, Q., Wu, D., & Day, T. A. (2021) · Oncogene · doi:10.1038/s41388-021-02032-9 · Cited by 32
“This approach is complementary to analyses of mutable motifs and called the mutational signature technique [129, 130].”
MethodMost cancers carry a substantial deleterious load due to Hill-Robertson interference
Tilk, S., Tkachenko, S., Curtis, C. N., Petrov, D. A., & McFarland, C. D. (2022) · eLife · doi:10.7554/elife.67790 · Cited by 37
“Note that this permutation procedure will account for all gene and tumor-level mutational biases (e.g. neighboring bases 7 , transcription-coupled repair, S phase timing 8 , mutator phenotypes) and their covariation.”
MethodMutation bias and the predictability of evolution
Cano, A. V., Gitschlag, B. L., Rozhoňová, H., Stoltzfus, A., McCandlish, D. M., & Payne, J. L. (2023) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2022.0055 · Cited by 39
Nuclear topology modulates the mutational landscapes of cancer genomes
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Mutational Processes in Hepatocellular Carcinoma: The Story of Aristolochic Acid
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Moreno, N. C., de Souza, T. A., Garcia, C. C. M., Ruiz, N. Q., Corradi, C., Castro, L. P., Munford, V., Ienne, S., Alexandrov, L. B., & Menck, C. F. M. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1182 · Cited by 32
“Although these studies have clarified many questions about the mutagenicity of UV light, they have many limitations, such as the clustering of information from various samples and the use of genes that are under selection (such as the HPRT or TP53 gene) (8).”
Self-citationMonoallelic deleterious MUTYH germline variants as a driver for tumorigenesis
Barreiro, R., Sabbaga, J., Rossi, B. M., Achatz, M. I., Bettoni, F., Camargo, A. A., Asprino, P. F., & Galante, P. A. F. (2021) · The Journal of Pathology · doi:10.1002/path.5829 · Cited by 33
“Deficiency of the BER mechanism implies the accumulation of specific somatic mutations, leaving behind a characteristic error trace [4,5].”
BackgroundGudmundsson, S., Wilbe, M., Ekvall, S., Ameur, A., Cahill, N., Alexandrov, L. B., Virtanen, M., Pigg, M. H., Vahlquist, A., Törmä, H., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx017 · Cited by 30
Self-citationMendoza-Álvarez, A., Guillén‐Guío, B., Baez‐Ortega, A., Hernandez-Perez, C., Lakhwani-Lakhwani, S., Maeso, M.-D.-C., Lorenzo-Salazar, J. M., Morales, M., & Flores, C. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00439 · Cited by 30
“The latter were obtained by classifying SNVs into 96 categories according to substitution type (interpreting the pyrimidine base in the Watson–Crick pair as the reference base) and the bases immediately 5 and 3 to the mutated base in the reference genome (Alexandrov and Stratton, 2014).”
MethodDistinct genomic features in a retrospective cohort of mucosal, acral, and vulvovaginal melanomas
Shi, K., Zhang, B., Kong, B. Y., Zhang, Y., Igartua, C., Mohan, L. S., Quan, V. L., Panah, E., Isales, M. C., Beaubier, N. T., et al. (2019) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2019.07.017 · Cited by 29
Germline de novo mutation rates on exons versus introns in humans
Rodriguez-Galindo, M., Casillas, S., Weghorn, D., & Barbadilla, A. (2020) · Nature Communications · doi:10.1038/s41467-020-17162-z · Cited by 32
“Furthermore, tumors greatly vary in their mutation spectrum [34, 9, 35], reflecting particular differences among cell types in repair and mutagenic mechanisms, while germline variation is mainly driven by CpG transitions [36].”
BackgroundDotolo, S., Abate, R. E., Roma, C., Guido, D., Preziosi, A., Tropea, B., Palluzzi, F., Giacò, L., & Normanno, N. (2022) · Biomedicines · doi:10.3390/biomedicines10092074 · Cited by 32
Transcription-associated events affecting genomic integrity
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Somatic mutations in autoinflammatory and autoimmune disease
Torreggiani, S., Castellan, F. S., Aksentijevich, I. A., & Beck, D. B. (2024) · Nature Reviews Rheumatology · doi:10.1038/s41584-024-01168-8 · Cited by 30
“Mutational signatures, which are patterns of somatic variation characterized by the specific mutation and the genomic context of the mutation, can implicate underlying mutagenic mechanisms, although to date not all signatures have a defined origin 35,36 .”
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
Park, J., Cook, D. E., Chang, P.-C., Kolesnikov, A., Brambrink, L., Mier, J. C., Gardner, J. M. V., McNulty, B., Sacco, S., Keşküş, A. G., et al. (2025) · Nature Biotechnology · doi:10.1038/s41587-025-02839-x · Cited by 29
Cancer evolution and heterogeneity
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Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastoma
van den Boogaard, M. L., Oka, R., Hakkert, A., Schild, L. G., Ebus, M. E., van Gerven, M. R., Zwijnenburg, D. A., Molenaar, P., Hoyng, L., Dolman, M. E. M., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2007898118 · Cited by 30
“These similar signatures both mainly consist of C > A substitutions, although with a slightly different trinucleotide distribution (9, 26, 27).”
BackgroundPietrantonio, F., Randon, G., Romagnoli, D., Donato, S. D., Benelli, M., & de Braud, F. (2019) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2019.101935 · Cited by 29
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An overview of mutational and copy number signatures in human cancer
Steele, C. D., Pillay, N., & Alexandrov, L. B. (2022) · The Journal of Pathology · doi:10.1002/path.5912 · Cited by 27
“During the last decade, analysis of mutational signatures has become a standard approach in examining somatic mutations derived from next-generation sequencing data (see [2,18,19] for in depth reviews of mutational signatures).”
BackgroundSelf-citationMelloy, P. G. (2019) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22820 · Cited by 26
Somatic mutations in cancer: Stochastic versus predictable
Gold, B. I. (2017) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2016.12.006 · Cited by 26
Kim, Y.-A., Wójtowicz, D., Basso, R. S., Sason, I., Robinson, W., Hochbaum, D. S., Leiserson, M. D. M., Sharan, R., Vadin, F., & Przytycka, T. M. (2020) · Genome Medicine · doi:10.1186/s13073-020-00745-2 · Cited by 25
“With the increased interest in the information on mutagenic processes acting on cancer genomes, several computational approaches have been developed to define mutational signatures in cancer [1, 3, 4, 5, 6, 7], to identify patients whose genome contains given signatures [6, 7, 8], and to map patient mutations to these…”
BackgroundFei, S. S., Mitchell, A., Heskett, M. B., Vocke, C. D., Ricketts, C. J., Peto, M., Wang, N. J., Sönmez, K., Linehan, W. M., & Spellman, P. T. (2016) · Nature Communications · doi:10.1038/ncomms11588 · Cited by 26
Sun, L., Cliften, P. F., Duncavage, E. J., Lewis, J. S., & Chernock, R. D. (2019) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000001231 · Cited by 26
decompTumor2Sig: identification of mutational signatures active in individual tumors
Krüger, S., & Piro, R. M. (2019) · BMC Bioinformatics · doi:10.1186/s12859-019-2688-6 · Cited by 25
Quantifying gene selection in cancer through protein functional alteration bias
Brandes, N., Linial, N., & Linial, M. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz546 · Cited by 26
“We avoided the more complex signature of 96 trinuleotide frequencies (25,26) as it would result in a too detailed background model compatible only with long proteins.”
BackgroundMethodKavli, B., Iveland, T. S., Buchinger, E., Hagen, L., Liabakk, N., Aas, P. A., Obermann, T., Aachmann, F. L., & Slupphaug, G. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab195 · Cited by 25
“This is supported by analysis of mutational signatures associated with C>T transition across a wide spectrum of human cancers (3).”
BackgroundUnraveling the genomic landscape of colorectal cancer through mutational signatures
Díaz‐Gay, M., & Alexandrov, L. B. (2021) · Advances in cancer research · doi:10.1016/bs.acr.2021.03.003 · Cited by 28
Self-citationLindberg, M., Boström, M., Elliott, K., & Larsson, E. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1909021116 · Cited by 25
Rotunno, M., Barajas, R., Clyne, M., Hoover, E., Simonds, N. I., Lam, T. K., Mechanic, L. E., Goldstein, A. M., & Gillanders, E. M. (2020) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-19-1551 · Cited by 25
“Use of NGS has accelerated the discovery of somatic mutations (5) and germline mutations in Mendelian diseases (6).”
BackgroundWhole-genome sequencing identifies new genetic alterations in meningiomas
Tang, M., Heng, W., Han, L., Deng, J., Wang, Y., Yang, M., Tang, Y.-N., Guo, G. F., Zhou, L., & Tong, A. (2017) · Oncotarget · doi:10.18632/oncotarget.15043 · Cited by 24
Immunotherapy in head and neck cancer: The great challenge of patient selection
Napolitano, M., Schipilliti, F. M., Trudu, L., & Bertolini, F. (2019) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2019.102829 · Cited by 23
Tracking hematopoietic stem cells and their progeny using whole-genome sequencing
Lee-Six, H., & Kent, D. G. (2020) · Experimental Hematology · doi:10.1016/j.exphem.2020.01.004 · Cited by 26
RB1-deficient squamous cell carcinoma: the proposed source of combined Merkel cell carcinoma
DeCoste, R. C., Walsh, N. M. G., Gaston, D., Ly, T. Y., Pasternak, S., Cutler, S., Nightingale, M., & Carter, M. D. (2022) · Modern Pathology · doi:10.1038/s41379-022-01151-2 · Cited by 24
Macroenvironment-gene-microenvironment interactions in ultraviolet radiation-induced melanomagenesis
Mo, X., Preston, S., & Zaidi, M. R. (2019) · Advances in cancer research · doi:10.1016/bs.acr.2019.03.008 · Cited by 24
Wang, J., Li, X.-R., Kim, K. D., Scanlon, M., Jackson, S., Springer, N., & Yu, J.-M. (2019) · Genome Biology · doi:10.1186/s13059-019-1683-6 · Cited by 18
Base-excision repair pathway shapes 5-methylcytosine deamination signatures in pan-cancer genomes
Silveira, A. B., Houy, A., Ganier, O., Özemek, B., Vanhuele, S., Vincent‐Salomon, A., Cassoux, N., Mariani, P., Pierron, G., Leyvraz, S., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-54223-z · Cited by 22
Denkert, C., Untch, M., Benz, S. C., Schneeweiß, A., Weber, K. E., Schmatloch, S., Jackisch, C., Sinn, H., Golovato, J., Karn, T., et al. (2021) · Annals of Oncology · doi:10.1016/j.annonc.2020.12.016 · Cited by 23
Funingana, I.-G., Reinius, M. A. V., Petrillo, A., Ang, J. E., & Brenton, J. D. (2021) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2021.02.008 · Cited by 23
Is the Genetic Paradigm of Cancer Complete?
Gatenby, R. A. (2017) · Radiology · doi:10.1148/radiol.2017171004 · Cited by 24
Mutational landscape of radiation-associated angiosarcoma of the breast
Thibodeau, B. J., Lavergne, V., Dekhne, N. S., Benitez, P., Amin, M., Ahmed, S. I., Nakamura, J. L., Davidson, P. R., Nakamura, A., Grills, I. S., et al. (2018) · Oncotarget · doi:10.18632/oncotarget.24273 · Cited by 23
Villani, R. M., Murigneux, V., Alexis, J., Sim, S.-L., Wagels, M., Saunders, N. A., Soyer, H. P., Parmentier, L., Nikolaev, S. I., Fink, J. L., et al. (2021) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2021.02.760 · Cited by 22
van den Heuvel, G. R. M., Kroeze, L. I., Ligtenberg, M. J. L., Grünberg, K., Jansen, E. A. M., von Rhein, D. T., de Voer, R. M., & van den Heuvel, M. M. (2021) · Respiratory Research · doi:10.1186/s12931-021-01871-0 · Cited by 19
“Since Alexandrov and Stratton uncovered and catalogued mutational signatures, our understanding of the mutational processes that cause somatic mutations is markedly expanded [15].”
BackgroundContribution of mechanical homeostasis to epithelial-mesenchymal transition
Han, S. J., Kwon, S., & Kim, K. S. (2022) · Cellular Oncology · doi:10.1007/s13402-022-00720-6 · Cited by 22
Nucleotide Excision Repair: From Neurodegeneration to Cancer
Liakos, A., Lavigne, M. D., & Fousteri, M. I. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-60733-7_2 · Cited by 24
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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