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A comprehensive catalogue of somatic mutations from a human cancer genome
Open accessAbstract
All cancers carry somatic mutations. A subset of these somatic alterations, termed driver mutations, confer selective growth advantage and are implicated in cancer development, whereas the remainder are passengers. Here we have sequenced the genomes of a malignant melanoma and a lymphoblastoid cell line from the same person, providing the first comprehensive catalogue of somatic mutations from an individual cancer. The catalogue provides remarkable insights into the forces that have shaped this cancer genome. The dominant mutational signature reflects DNA damage due to ultraviolet light exposure, a known risk factor for malignant melanoma, whereas the uneven distribution of mutations across the genome, with a lower prevalence in gene footprints, indicates that DNA repair has been preferentially deployed towards transcribed regions. The results illustrate the power of a cancer genome sequence to reveal traces of the DNA damage, repair, mutation and selection processes that were operative years before the cancer became symptomatic. The two cancer genome sequences presented in this issue demonstrate how next-generation sequencing technologies can inform us about mutational processes, repair pathways and gene networks associated with cancer development. First, the genome of a cell line derived from a bone marrow metastasis in a patient who had small-cell lung cancer. This cancer is typical of the type induced by smoking, and the sequence contains mutation signatures characteristic of some of the more than 60 carcinogens present in tobacco smoke. The second paper compares the whole genome sequence of a melanoma cell line to a lymphoblastoid cell line from the same individual. This, the first complete mutational analysis of a solid tumour, reveals a dominant mutational signature reflecting DNA damage due to exposure to ultraviolet light. Here, the genomes of a malignant melanoma and a lymphoblastoid cell line from the same person are sequenced, providing the first comprehensive catalogue of somatic mutations from an individual cancer. The data provide insight into the causes of tumour formation and the development of the cancer genome, with the dominant mutational signature reflecting DNA damage due to ultraviolet light exposure.
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“Melanoma somatic mutations consist almost entirely of C → T transitions, 28% of which are TCC → T mutations (19,31).”
From Evidence for recent, population-specific evolution of the human mutation rate (2015) · cites this paper as [31]
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Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Circos: An information aesthetic for comparative genomicsPreprint
Krzywinski, M. I., Schein, J. E., Birol, İ., Connors, J. M., Gascoyne, R. D., Horsman, D. E., Jones, S. J. M., & Marra, M. A. (2009) · Genome Research · doi:10.1101/gr.092759.109 · Cited by 11,029
Velvet: Algorithms for de novo short read assembly using de Bruijn graphsPreprint
Zerbino, D. R., & Birney, E. (2008) · Genome Research · doi:10.1101/gr.074492.107 · Cited by 9,575
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
The Cancer Genome Atlas Research Network (2008) · Nature · doi:10.1038/nature07385 · Cited by 7,735
Genome sequencing in microfabricated high-density picolitre reactors
Margulies, M., Egholm, M., Altman, W. E., Attiya, S., Bader, J. S., Bemben, L. A., Berka, J., Braverman, M. S., Chen, Y.-J., Chen, Z., et al. (2005) · Nature · doi:10.1038/nature03959 · Cited by 7,693
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
Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses
Jones, S., Zhang, X., Parsons, D. W., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Kamiyama, H., Jimeno, A., et al. (2008) · Science · doi:10.1126/science.1164368 · Cited by 3,969
Self-citationAccurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684
Self-citationStratton, M. R., Campbell, P. J., & Futreal, P. A. (2009) · Nature · doi:10.1038/nature07943 · Cited by 3,625
Self-citationA census of human cancer genes
Futreal, P. A., Coin, L., Marshall, M., Down, T., Hubbard, T., Wooster, R., Rahman, N., & Stratton, M. R. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1299 · Cited by 3,184
Self-citation
Cited by
Sorted by citations
Items 801–900 of 1,001
Soengas, M. S. (2012) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12021 · Cited by 23
Shedding Light on Melanocyte Pathobiology In Vivo
Zaidi, M. R., Fabo, E. C. D., Noonan, F. P., & Merlino, G. T. (2012) · Cancer Research · doi:10.1158/0008-5472.can-11-2586 · Cited by 23
One-hit wonders of genomic instability
Strunnikov, A. V. (2010) · Cell Division · doi:10.1186/1747-1028-5-15 · Cited by 23
Sutton, K. A., Jungnickel, M. K., Jovine, L., & Florman, H. M. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/mss083 · Cited by 23
The effect of solar ultraviolet radiation (UVR) on induction of skin cancers
Pacholczyk, M., Czernicki, J., & Ferenc, T. (2016) · Medycyna Pracy · doi:10.13075/mp.5893.00342 · Cited by 25
Garg, B., Pathria, G., Wagner, C., Maurer‐Granofszky, M., & Wagner, S. N. (2016) · Mutagenesis · doi:10.1093/mutage/gew023 · Cited by 21
Darwin: A Genomics Coprocessor
Turakhia, Y., Zheng, K. J., Bejerano, G., & Dally, W. J. (2019) · IEEE Micro · doi:10.1109/mm.2019.2910009 · Cited by 23
Skin Photodamage and Melanomagenesis: A Comprehensive Review
Manganelli, M., Stabile, G., Scharf, C., Brunetti, A. P., Paolino, G., Giuffrida, R., Bigotto, G. D., Damiano, G., Mercuri, S. R., Sallustio, F., et al. (2025) · Cancers · doi:10.3390/cancers17111784 · Cited by 26
Zhang, L., Komurov, K., Wright, W. E., & Shay, J. W. (2012) · International Journal of Cancer · doi:10.1002/ijc.27705 · Cited by 22
Siegmund, K. D., Marjoram, P., Tavaré, S., & Shibata, D. K. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021657 · Cited by 22
New DNA sequencing technologies open a promising era for cancer research and treatment
Sastre, L. (2011) · Clinical & Translational Oncology · doi:10.1007/s12094-011-0658-1 · Cited by 22
Pathogenesis and Molecular Biology of a Transmissible Tumor in the Tasmanian Devil
Bender, H. S., Graves, J. A. M., & Deakin, J. E. (2013) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-022513-114204 · Cited by 22
Brain Metastasis: Clinical Implications of Branched Evolution
Dagogo‐Jack, I., Carter, S. L., & Brastianos, P. K. (2016) · Trends in cancer · doi:10.1016/j.trecan.2016.06.005 · Cited by 23
Lipids in ultraviolet radiation-induced immune modulation
Tse, B. C. Y., & Byrne, S. N. (2020) · Photochemical & Photobiological Sciences · doi:10.1039/d0pp00146e · Cited by 23
Small but Challenging Conjunctival Melanoma: New Insights, Paradigms and Future Perspectives
Nahon‐Estève, S., Bertolotto, C., Picard‐Gauci, A., Gastaud, L., Baillif, S., Hofman, P. M., Groulier, A., Maschi, C., Caujolle, J., Lassalle, S., et al. (2021) · Cancers · doi:10.3390/cancers13225691 · Cited by 22
Zaman, N., Giannopoulos, P. N., Chowdhury, S. F., Bonneil, É., Thibault, P., Wang, E., Trifiro, M. A., & Paliouras, M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0113190 · Cited by 22
Mechanisms and impacts of chromosomal translocations in cancers
Wang, J. H. (2012) · Frontiers of Medicine · doi:10.1007/s11684-012-0215-5 · Cited by 23
Genome instability mechanisms and the structure of cancer genomes
Cassidy, L. D., & Venkitaraman, A. R. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.02.003 · Cited by 22
Hyka‐Nouspikel, N., Lemonidis, K., Lu, W.-T., & Nouspikel, T. (2011) · Blood · doi:10.1182/blood-2010-12-326637 · Cited by 23
Multiple roles of ubiquitination in the control of nucleotide excision repair
Nouspikel, T. (2011) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2011.03.003 · Cited by 26
New discoveries linking transcription to DNA repair and damage tolerance pathways
Cohen, S., & Walker, G. C. (2011) · Transcription · doi:10.4161/trns.2.1.14228 · Cited by 22
Evaluation of chemical mutagenicity using next generation sequencing: A review
Du, H., Pan, B., & Chen, T. (2017) · Journal of Environmental Science and Health Part C · doi:10.1080/10590501.2017.1328831 · Cited by 23
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
UV exposure as a risk factor for skin cancer
Andreassi, L. (2011) · Expert Review of Dermatology · doi:10.1586/edm.11.54 · Cited by 21
APOBEC3A/B-induced mutagenesis is responsible for 20% of heritable mutations in the TpCpW contextPreprint
Seplyarskiy, V. B., Andrianova, M. A., & Bazykin, G. A. (2016) · Genome Research · doi:10.1101/gr.210336.116 · Cited by 19
Noninvasive PET Imaging of CDK4/6 Activation in Breast Cancer
Ramos, N. N., Baquero‐Buitrago, J., Youss, Z. B., Wadghiri, Y. Z., Reiner, T., Boada, F. E., & Carlucci, G. (2019) · Journal of Nuclear Medicine · doi:10.2967/jnumed.119.232603 · Cited by 21
The Immune System and Pathogenesis of Melanoma and Non-melanoma Skin Cancer
Schrom, K. P., Kim, I., & Baron, E. D. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-46227-7_11 · Cited by 21
de Semir, D., Bezrookove, V., Nosrati, M., Dar, A. A., Miller, J. R., Leong, S. P. L., Kim, K. B., Liao, W. J., Soroceanu, L., McAllister, S. D., et al. (2021) · Cancer Research · doi:10.1158/0008-5472.can-20-3450 · Cited by 21
Melanoma genomics: a state‐of‐the‐art review of practical clinical applications*
Guhan, S. M., Klebanov, N., & Tsao, H. (2021) · British Journal of Dermatology · doi:10.1111/bjd.20421 · Cited by 23
Aleotti, V., Catoni, C., Poggiana, C., Rosato, A., Facchinetti, A., & Scaini, M. C. (2021) · Cancers · doi:10.3390/cancers13246217 · Cited by 23
Li, J., Liu, W., Mojumdar, K., Kim, H., Zhou, Z., Ju, Z., Kumar, S. V., Ng, P. K., Chen, H., Davies, M. A., et al. (2024) · Nature Cancer · doi:10.1038/s43018-024-00817-x · Cited by 23
A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility
Christensen, C., Bártková, J., Mistrík, M., Hall, A., Lange, M. K., Ralfkiær, U., Bártek, J., & Guldberg, P. (2014) · Nature Communications · doi:10.1038/ncomms6348 · Cited by 21
Testing the divergent pathway hypothesis for melanoma: recent findings and future challenges
Whiteman, D. C. (2010) · Expert Review of Anticancer Therapy · doi:10.1586/era.10.42 · Cited by 25
CellLineNavigator: a workbench for cancer cell line analysis
Krupp, M., Itzel, T., Maass, T., Hildebrandt, A., Galle, P. R., & Teufel, A. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1012 · Cited by 21
Basha, O., Tirman, S., Eluk, A., & Yeger‐Lotem, E. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt532 · Cited by 21
Narrowing the knowledge gaps for melanoma
Slipicevic, A., & Herlyn, M. (2012) · Upsala Journal of Medical Sciences · doi:10.3109/03009734.2012.658977 · Cited by 22
Varying Mutational Alterations in Multiple Primary Melanomas
Egberts, F., Bohne, A., Krüger, S., Hedderich, J., Rompel, R., Haag, J., Röcken, C., & Hauschild, A. (2015) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2015.07.010 · Cited by 21
Modelling Mutation Spectra of Human Carcinogens Using Experimental Systems
Zhivagui, M., Korenjak, M., & Zavadil, J. (2016) · Basic & Clinical Pharmacology & Toxicology · doi:10.1111/bcpt.12690 · Cited by 21
Ultraviolet Radiation and Kaposi Sarcoma Incidence in a Nationwide US Cohort of HIV-Infected Men
Cahoon, E. K., Engels, E. A., Freedman, D. M., Norval, M., & Pfeiffer, R. M. (2016) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djw267 · Cited by 21
Evolutionary dynamics and significance of multiple subclonal mutations in cancer
Beckman, R. A., & Loeb, L. A. (2017) · DNA repair · doi:10.1016/j.dnarep.2017.06.002 · Cited by 23
Plasma medical oncology: Immunological interpretation of head and neck squamous cell carcinoma
Witzke, K., Seebauer, C., Jesse, K., Kwiatek, E., Berner, J., Semmler, M., Boeckmann, L., Emmert, S., Weltmann, K., Metelmann, H., et al. (2020) · Plasma Processes and Polymers · doi:10.1002/ppap.201900258 · Cited by 21
ecTMB: a robust method to estimate and classify tumor mutational burden
Yao, L., Fu, Y., Mohiyuddin, M., & Lam, H. Y. K. (2020) · Scientific Reports · doi:10.1038/s41598-020-61575-1 · Cited by 19
Xu, J., Liu, Y., Liu, S., Ou, W., White, A. M., Stewart, S., Tkaczuk, K. H. R., Ellis, L. M., Wan, J., Lu, X., et al. (2022) · Nano Today · doi:10.1016/j.nantod.2022.101406 · Cited by 21
Meyskens, F. L., & Yang, S. (2010) · Recent results in cancer research/Recent Results in Cancer Research · doi:10.1007/978-3-642-10858-7_5 · Cited by 21
Active Site Mutations in Mammalian DNA Polymerase δ Alter Accuracy and Replication Fork Progression
Schmitt, M. W., Venkatesan, R. N., Pillaire, M., Hoffmann, J., Sidorova, J. M., & Loeb, L. A. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.147017 · Cited by 21
Mosig, R., Lin, L., Senturk, E., Shah, H., Huang, F., Schlosshauer, P. W., Cohen, S., Fruscio, R., Marchini, S., D’Incalci, M., et al. (2012) · Journal of Ovarian Research · doi:10.1186/1757-2215-5-4 · Cited by 21
Schuh, A., Dreau, H. M.-P., Knight, S. J. L., Ridout, K. E., Mizani, T., Vavoulis, D. V., Colling, R. T., Antoniou, P., Kvikstad, E. M., Pentony, M. M., et al. (2018) · Molecular Case Studies · doi:10.1101/mcs.a002279 · Cited by 22
Solar Radiation and Human Health
Seckmeyer, G., Zittermann, A., McKenzie, R., & Greinert, R. (2012) · Springer eBooks · doi:10.1007/978-1-4419-0851-3_455 · Cited by 22
Implementing precision medicine initiatives in the clinic
Hollebecque, A., Massard, C., & Soria, J. (2014) · Current Opinion in Oncology · doi:10.1097/cco.0000000000000077 · Cited by 20
A New Story of the Three Magi: Scaffolding Proteins and lncRNA Suppressors of Cancer
Kotelevets, L., & Chastre, E. (2021) · Cancers · doi:10.3390/cancers13174264 · Cited by 21
Kallimanis, P., Chinou, İ., Panagiotopoulou, A., Soshilov, A. A., He, G., Denison, M. S., & Magiatis, P. (2022) · Molecules · doi:10.3390/molecules27082499 · Cited by 23
Lee, S. S., Paliouras, M., & Trifiro, M. A. (2023) · Bioengineering · doi:10.3390/bioengineering10010108 · Cited by 21
Biomarkers as Key Contributors in Treating Malignant Melanoma Metastases
de Souza, C. F., Morais, A. S., & Jasiulionis, M. G. (2011) · Dermatology Research and Practice · doi:10.1155/2012/156068 · Cited by 20
Soussi, T. (2011) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2011.07.003 · Cited by 20
FaSD-somatic: a fast and accurate somatic SNV detection algorithm for cancer genome sequencing data
Wang, W., Wang, P., Feng, X., Luo, R., Wong, M. P., Lam, T., & Wang, J. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu338 · Cited by 20
Statistical inference of allelic imbalance from transcriptome data
Nothnagel, M., Wolf, A., Herrmann, A., Szafranski, K., Vater, I., Brosch, M., Huse, K., Siebert, R., Platzer, M., Hampe, J., et al. (2010) · Human Mutation · doi:10.1002/humu.21396 · Cited by 20
Lee, S. S., Roche, P. J. R., Giannopoulos, P. N., Mitmaker, E. J., Tamilia, M., Paliouras, M., & Trifiro, M. A. (2017) · Tumor Biology · doi:10.1177/1010428317695943 · Cited by 20
Janssen, M. J., Salomon, J., Cnossen, W. R., Bergmann, C., Pfundt, R., & Drenth, J. P. H. (2014) · Gut · doi:10.1136/gutjnl-2014-308062 · Cited by 20
Swope, V. B., Starner, R. J., Rauck, C., & Abdel‐Malek, Z. A. (2020) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12823 · Cited by 18
Hampton, O. A., Miller, C. A., Koriabine, M., Li, J., den Hollander, P., Carbone, L., Nefedov, M. D., ten Hallers, B., Lee, A. V., de Jong, P. J., et al. (2011) · Cancer Genetics · doi:10.1016/j.cancergen.2011.07.009 · Cited by 18
Li, J., Poursat, M.-A., Drubay, D., Motz, A., Saci, Z., Morillon, A., Michiels, S., & Gautheret, D. (2015) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004583 · Cited by 19
Melas, M., Subbiah, S. P., Saadat, S., Rajurkar, S. P., & McDonnell, K. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9072125 · Cited by 19
Identification of Cancer Driver Genes by Integrating Multiomics Data with Graph Neural Networks
Song, H., Yin, C., Li, Z., Feng, K., Cao, Y., Gu, Y., & Sun, H. (2023) · Metabolites · doi:10.3390/metabo13030339 · Cited by 19
Target enrichment using parallel nanoliter quantitative PCR amplification
Wilde, B. D., Lefever, S., Dong, W., Dunne, J., Husain, S., Derveaux, S., Hellemans, J., & Vandesompele, J. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-184 · Cited by 19
Different phenotypic consequences of simultaneous versus stepwise Apc loss
Fischer, J. M., Miller, A., Shibata, D. K., & Liskay, R. M. (2011) · Oncogene · doi:10.1038/onc.2011.385 · Cited by 19
Selected technologies for measuring acquired genetic damage in humans
Shuga, J., Zeng, Y., Novak, R., Mathies, R. A., Hainaut, P. L., & Smith, M. T. (2010) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20630 · Cited by 19
Systems Biology Approach for New Target and Biomarker Identification
Wang, I., Stone, D. J., Nickle, D. C., Loboda, A. P., Puig, Ó., & Roberts, C. (2012) · Current topics in microbiology and immunology · doi:10.1007/82_2012_252 · Cited by 19
cAMP-mediated regulation of melanocyte genomic instability: A melanoma-preventive strategy
Holcomb, N., Bautista, R., Jarrett, S. G., Carter, K. M., Krentz, M., & D'Orazio, J. A. (2018) · Advances in protein chemistry and structural biology · doi:10.1016/bs.apcsb.2018.10.008 · Cited by 19
Shen, Y., Ha, W., Zeng, W., Queen, D., & Liu, L. (2020) · Scientific Reports · doi:10.1038/s41598-020-61807-4 · Cited by 20
Genetics and Epigenetics of the Skin Meet Deep Sequence
Cheng, J. B., & Cho, R. J. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.436 · Cited by 19
Targeted next-generation sequencing for routine clinical screening of mutations
Weaver, J. M. J., & Edwards, P. A. (2011) · Genome Medicine · doi:10.1186/gm274 · Cited by 19
Biphasic Rapamycin Effects in Lymphoma and Carcinoma Treatment
Liu, Y., Pandeswara, S., Dao, V. A., Padron, A. S., Drerup, J. M., Lao, S., Liu, A., Hurez, V. J., & Curiel, T. J. (2016) · Cancer Research · doi:10.1158/0008-5472.can-16-1140 · Cited by 20
Mitochondrial inheritance and cancer
Dong, J., Wong, L. C., & Mims, M. P. (2018) · Translational research · doi:10.1016/j.trsl.2018.06.004 · Cited by 19
Adhesion-GPCRs in Tumorigenesis
Aust, G. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-7913-1_9 · Cited by 19
Targeting the signaling pathways in cancer therapy
Cho, W. C. S. (2012) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.2011.648618 · Cited by 19
Recent advances in sunlight-induced carcinogenesis using the Xiphophorus melanoma model
Fernandez, A. A., Paniker, L., Garcia, R., & Mitchell, D. L. (2012) · Comparative Biochemistry and Physiology Part C: Toxicology & Pharmacology · doi:10.1016/j.cbpc.2011.03.007 · Cited by 18
Dissecting genetic and environmental mutation signatures with model organisms
Segovia, R., Tam, A., & Stirling, P. C. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.04.001 · Cited by 20
Genotyping of cutaneous melanoma.
Glitza, I. C., & Davies, M. A. (2014) · PubMed · doi:10.3978/j.issn.2304-3865.2014.03.01 · Cited by 18
The value of new high-throughput technologies for diagnosis and prognosis in solid tumors
Pinto, R., Summa, S. D., Petriella, D., Tudoran, O. M., Danza, K., & Tommasi, S. (2014) · Cancer Biomarkers · doi:10.3233/cbm-130328 · Cited by 18
The somatic autosomal mutation matrix in cancer genomes
Temiz, N. A., Donohue, D. E., Bacolla, A., Vásquez, K. M., Cooper, D. N., Mudunuri, U. S., Ivanic, J., Cer, R. Z., Yi, M., Stephens, R. M., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1566-1 · Cited by 17
Comprehensive Genomic Analysis of a BRCA2 Deficient Human Pancreatic Cancer
Barber, L. J., Rosa, J. M. R., Kozarewa, I., Fenwick, K., Assiotis, I., Mitsopoulos, C., Sims, D., Hakas, J., Zvelebil, M., Lord, C. J., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021639 · Cited by 22
Novel diet-related mouse model of colon cancer parallels human colon cancer
Prasad, A. R. (2014) · World Journal of Gastrointestinal Oncology · doi:10.4251/wjgo.v6.i7.225 · Cited by 18
Olin, M. R., Pluhar, G. E., Andersen, B. M., Shaver, R. L., Waldron, N. N., & Moertel, C. L. (2014) · Critical Reviews in Immunology · doi:10.1615/critrevimmunol.2014011577 · Cited by 18
Rytelewski, M., Ferguson, P. J., Vareki, S. M., Figueredo, R., Vincent, M. D., & Koropatnick, J. D. (2013) · Molecular Therapy — Nucleic Acids · doi:10.1038/mtna.2013.7 · Cited by 18
An evolutionary perspective on anti-tumor immunity
Klinke, D. J. (2013) · Frontiers in Oncology · doi:10.3389/fonc.2012.00202 · Cited by 18
Wee, E. J. H., Rauf, S., Koo, K. M., Shiddiky, M. J. A., & Trau, M. (2013) · Lab on a Chip · doi:10.1039/c3lc50528f · Cited by 18
Long range personalized cancer treatment strategies incorporating evolutionary dynamics
Yeang, C., & Beckman, R. A. (2016) · Biology Direct · doi:10.1186/s13062-016-0153-2 · Cited by 18
Somatic Mutations in Prostate Cancer: Closer to Personalized Medicine
Álvarez-Cubero, M. J., Martínez-González, L. J., Robles‐Fernandez, I., Martínez‐Herrera, J. F., Garcia-Rodriguez, G., Pascual-Geler, M., Cozar, J. M., & Lorente, J. A. (2016) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-016-0248-6 · Cited by 19
Multiplex assay for multiomics advances in personalized-precision medicine
Popa, M.-L., Albulescu, R., Neagu, M. T., Hinescu, M. E., & Tănase, C. (2019) · Journal of Immunoassay and Immunochemistry · doi:10.1080/15321819.2018.1562940 · Cited by 18
The Hypervariable Region of K-Ras4B Governs Molecular Recognition and Function
Abdelkarim, H., Banerjee, A., Grudzien, P. K., Leschinsky, N., Abushaer, M., & Gaponenko, V. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20225718 · Cited by 18
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Metadata
- Authors
- Pleasance, E. D., Cheetham, R. K., Stephens, P. J., McBride, D. J., Humphray, S. J., Greenman, C. D., Varela, I., Lin, M.-L., Ordóñez, G. R., Bignell, G. R., Ye, K., Alipaz, J., Bauer, M. J., Beare, D., Butler, A., Carter, R. J., Chen, L., Cox, A. J., Edkins, S., Kokko-Gonzales, P. I., Gormley, N. A., Grocock, R. J., Haudenschild, C. D., Hims, M. M., James, T., Jia, M., Kingsbury, Z., Leroy, C., Marshall, J., Menzies, A., Mudie, L. J., Ning, Z., Royce, T., Schulz-Trieglaff, O. B., Spiridou, A., Stebbings, L. A., Szajkowski, L., Teague, J., Williamson, D., Chin, L., Ross, M. T., Campbell, P. J., Bentley, D. R., Futreal, P. A., & Stratton, M. R.
- Affiliations
- Wellcome Sanger Institute (GB)
- Illumina (United Kingdom) (GB)
- Leiden University Medical Center (NL)
- Illumina (United States) (US)
- Dana-Farber Cancer Institute (US)
- Institute of Cancer Research (GB)
- Corresponding author
- Futreal, P. Andrew
- Stratton, Michael R.
- ORCID
- Pleasance, Erin D.
- McBride, David J.
- Humphray, Sean J.
- Greenman, Chris D.
- Varela, Ignacio
- Lin, Meng-Lay
- Ye, Kai
- Bauer, Markus J.
- Chen, Lina
- Edkins, Sarah
- James, Terena
- Jia, Mingming
- Marshall, John
- Menzies, Andrew
- Ning, Zemin
- Spiridou, Anastassia
- Teague, Jon
- Ross, Mark T.
- Campbell, Peter J.
- Futreal, P. Andrew
- Stratton, Michael R.
- Venue
- Nature
- Published
- 2009-12-16
- Volume
- 463
- Issue
- 7278
- Pages
- 191-196
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3145108
- OpenAlex
- W2150677022
- Cited by
- 1,696
- References
- 43
- Citations by year
- 2026: 23 · 2025: 47 · 2024: 43 · 2023: 49 · 2022: 50 · 2021: 83 · 2020: 76 · 2019: 87 · 2018: 69 · 2017: 94 · 2016: 121 · 2015: 116 · 2014: 144 · 2013: 166 · 2012: 189
- FWCI
- 58.62
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- Funders
- Wellcome Trust (077012/Z/05/Z, 077012, 088340, 093867)
- Kay Kendall Leukaemia Fund
- 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
- somatic mutations, mutational signatures, melanoma, lymphoblastoid cell lines, DNA repair, small cell lung cancer, tobacco smoke carcinogens, driver mutations, passenger mutations, cancer genome evolution
- MeSH terms
- Adult, DNA Damage, DNA Mutational Analysis, DNA Repair, Humans, Male, Melanoma, Mutation, Neoplasms, Ultraviolet Rays, Genome, Human, Mutagenesis, Insertional, Sequence Deletion, Gene Dosage, Loss of Heterozygosity, Polymorphism, Single Nucleotide, MicroRNAs, Cell Line, Tumor, Genes, Neoplasm, Precision Medicine
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