The DOI matches its Crossref record; 42 of the 43 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
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 401–500 of 1,001
Molecular links between COPD and lung cancer: new targets for drug discovery?
Caramori, G., Ruggeri, P., Mumby, S. E., Ieni, A., Bello, F. L., Chimankar, V., Donovan, C., Andò, F., Nucera, F., Coppolino, I., et al. (2019) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2019.1615884 · Cited by 84
The Somatic Mosaicism across Human Tissues Network
Coorens, T. H. H., Oh, J. W., Choi, Y. A., Lim, N. S., Zhao, B., Voshall, A., Abyzov, A. S., Antonacci-Fulton, L. L., Aparicio, S. A. J. R., Ardlie, K., et al. (2025) · Nature · doi:10.1038/s41586-025-09096-7 · Cited by 82
Systemic treatment of advanced hepatocellular carcinoma: From disillusions to new horizons
Hollebecque, A., Malka, D., Ferté, C., Ducreux, M. P., & Boige, V. (2015) · European Journal of Cancer · doi:10.1016/j.ejca.2014.12.005 · Cited by 79
Somatic Mutaome Profile in Human Cancer Tissues
Kim, N., Hong, Y., Kwon, D., & Yoon, S. (2013) · Genomics & Informatics · doi:10.5808/gi.2013.11.4.239 · Cited by 79
Berliner, N., Teyra, J., Çolak, R., Lopez, S. G., & Kim, P. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0107353 · Cited by 77
Global evidence on occupational sun exposure and keratinocyte cancers: a systematic review
Loney, T., Paulo, M. S., Modenese, A., Gobba, F., Tenkate, T. D., Whiteman, D. C., Green, A. C., & John, S. M. (2020) · British Journal of Dermatology · doi:10.1111/bjd.19152 · Cited by 78
Current Molecular Markers of Melanoma and Treatment Targets
Yang, K., Oak, A. S. W., Slominski, R. M., Brożyna, A. A., & Slominski, A. T. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21103535 · Cited by 80
Brouwer, N. J., Verdijk, R. M., Heegaard, S., Marinkovic, M., Esmaeli, B., & Jager, M. J. (2021) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2021.100971 · Cited by 81
Patient-oriented gene set analysis for cancer mutation data
Boca, S. M., Kinzler, K. W., Velculescu, V. E., Vogelstein, B., & Parmigiani, G. (2010) · Genome biology · doi:10.1186/gb-2010-11-11-r112 · Cited by 77
Tan, D. S. W., Gerlinger, M., Teh, B. T., & Swanton, C. (2010) · European Journal of Cancer · doi:10.1016/j.ejca.2010.03.019 · Cited by 79
Multifaceted Recognition of Vertebrate Rev1 by Translesion Polymerases ζ and κ
Wojtaszek, J. L., Liu, J., D’Souza, S., Wang, S., Xue, J. Y., Walker, G. C., & Zhou, P. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.380998 · Cited by 82
Grun, D., Adhikary, G., & Eckert, R. L. (2016) · Oncogene · doi:10.1038/onc.2015.507 · Cited by 78
Therapeutic Cancer Vaccination with Ex Vivo RNA-Transfected Dendritic Cells—An Update
Dörrie, J., Schaft, N., Schuler, G., & Schuler‐Thurner, B. (2020) · Pharmaceutics · doi:10.3390/pharmaceutics12020092 · Cited by 79
HERG channel and cancer: A mechanistic review of carcinogenic processes and therapeutic potential
He, S., Moutaoufik, M. T., Islam, S., Persad, A. R. L., Wu, A., Aly, K. A., Fonge, H., Babu, M., & Cayabyab, F. S. (2020) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2020.188355 · Cited by 77
Adhesion GPCRs in Tumorigenesis
Aust, G., Zhu, D., Meir, E. G. V., & Xu, L. (2016) · Handbook of experimental pharmacology · doi:10.1007/978-3-319-41523-9_17 · Cited by 76
Comprehensive characterization of the genomic alterations in human gastric cancer
Cui, J., Yin, Y., Ma, Q., Wang, G., Olman, V. N., Zhang, Y., Chou, W., Hong, C. S., Zhang, C., Cao, S., et al. (2014) · International Journal of Cancer · doi:10.1002/ijc.29352 · Cited by 77
The large-scale distribution of somatic mutations in cancer genomes
Hodgkinson, A., Chen, Y., & Eyre‐Walker, A. (2011) · Human Mutation · doi:10.1002/humu.21616 · Cited by 80
UV‐Induced DNA Damage and Mutagenesis in Chromatin
Mao, P., Wyrick, J. J., Roberts, S. A., & Smerdon, M. J. (2016) · Photochemistry and Photobiology · doi:10.1111/php.12646 · Cited by 79
Somatic evolution and global expansion of an ancient transmissible cancer lineage
Baez‐Ortega, A., Gori, K. C., Strakova, A., Allen, J. L., Allum, K. M., Bansse-Issa, L., Bhutia, T. N., Bisson, J. L., Briceño, C., Domracheva, A. C., et al. (2019) · Science · doi:10.1126/science.aau9923 · Cited by 80
Self-citationEpigenomics in cancer management
Costa, F. F. (2010) · Cancer Management and Research · doi:10.2147/cmr.s7280 · Cited by 77
Structural mutations in cancer: mechanistic and functional insights
Inaki, K., & Liu, E. T. (2012) · Trends in Genetics · doi:10.1016/j.tig.2012.07.002 · Cited by 75
Risk of Kaposi sarcoma after solid organ transplantation in the United States
Cahoon, E. K., Linet, M. S., Clarke, C. A., Pawlish, K. S., Engels, E. A., & Pfeiffer, R. M. (2018) · International Journal of Cancer · doi:10.1002/ijc.31735 · Cited by 77
Kumar, N., Moreno, N. C., Feltes, B. C., Menck, C. F. M., & Houten, B. V. (2020) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2019-0104 · Cited by 79
Batra, V. K., Shock, D. D., Beard, W. A., McKenna, C. E., & Wilson, S. H. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1112235108 · Cited by 75
DNA Mutations May Not Be the Cause of Cancer
Adjiri, A. (2017) · Oncology and Therapy · doi:10.1007/s40487-017-0047-1 · Cited by 76
Systems Medicine: A Real Approach for Future Personalized Oncology?
Roukos, D. H. (2010) · Pharmacogenomics · doi:10.2217/pgs.10.36 · Cited by 75
Clinical utility of whole-genome sequencing in precision oncology
Rosenquist, R., Cuppen, E. P. J. G., Buettner, R., Caldas, C., Dreau, H. M.-P., Elemento, O., Frederix, G., Grimmond, S. M., Haferlach, T., Jobanputra, V., et al. (2021) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2021.06.018 · Cited by 73
Breast cancer intratumor genetic heterogeneity: causes and implications
Ng, C. K. Y., Pemberton, H. N., & Reis-Filho, J. S. (2012) · Expert Review of Anticancer Therapy · doi:10.1586/era.12.85 · Cited by 77
Peptide-based vaccines for cancer therapy
Parmiani, G., Russo, V. E. A., Maccalli, C., Parolini, D., Rizzo, N., & Maio, M. (2014) · Human Vaccines & Immunotherapeutics · doi:10.4161/hv.29418 · Cited by 74
Environmental exposures and mutational patterns of cancer genomes
Pfeifer, G. P. (2010) · Genome Medicine · doi:10.1186/gm175 · Cited by 74
Lethal Mutagenesis: Targeting the Mutator Phenotype in Cancer
Fox, E., & Loeb, L. A. (2010) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2010.10.005 · Cited by 76
Li, X., Zhang, Y., Zhao, L., Wang, L., Wu, Z., Mei, Q., Nie, J., Li, X., Li, Y., Fu, X., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu330 · Cited by 77
Smyd3-associated regulatory pathways in cancer
Giakountis, A., Moulos, P., Sarris, M. E., Hatzis, P., & Talianidis, I. (2016) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2016.08.008 · Cited by 76
Bou-Dargham, M. J., Khamis, Z. I., Cognetta, A. B., & Sang, Q. A. (2016) · Medicinal Research Reviews · doi:10.1002/med.21406 · Cited by 76
SequencErr: measuring and suppressing sequencer errors in next-generation sequencing data
Davis, E. M., Sun, Y. T., Liu, Y., Kolekar, P. S., Shao, Y., Szlachta, K. A., Mulder, H. L., Ren, D., Rice, S. V., Wang, Z., et al. (2021) · Genome biology · doi:10.1186/s13059-020-02254-2 · Cited by 73
Protein Domain-Level Landscape of Cancer-Type-Specific Somatic Mutations
Yang, F., Petsalaki, E., Rolland, T., HILL, D. E., Vidal, M., & Roth, F. P. (2015) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004147 · Cited by 71
Fredriksson, N. J., Elliott, K., Filges, S., den Eynden, J. V., Ståhlberg, A., & Larsson, E. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006773 · Cited by 73
Genome Sequencing during a Patient’s Journey through Cancer
Nangalia, J., & Campbell, P. J. (2019) · New England Journal of Medicine · doi:10.1056/nejmra1910138 · Cited by 66
Self-citationZhao, Q., Kirkness, E. F., Caballero, O. L., Galante, P. A. F., Parmigiani, R. B., Edsall, L., Kuan, S., Ye, Z., Levy, S., de Vasconcelos, A. T. R., et al. (2010) · Genome biology · doi:10.1186/gb-2010-11-11-r114 · Cited by 61
CSPG4: a prototype oncoantigen for translational immunotherapy studies
Rolih, V., Barutello, G., Iussich, S., Maria, R. D., Quaglino, E., Buracco, P., Cavallo, F., & Riccardo, F. (2017) · Journal of Translational Medicine · doi:10.1186/s12967-017-1250-4 · Cited by 74
Malignant Melanoma: An Overview, New Perspectives, and Vitamin D Signaling
Slominski, R. M., Kim, T., Janjetović, Z., Brożyna, A. A., Podgórska, E., Dixon, K. M., Mason, R. S., Tuckey, R. C., Sharma, R., Crossman, D. K., et al. (2024) · Cancers · doi:10.3390/cancers16122262 · Cited by 79
Engineered T cells for anti-cancer therapy
Turtle, C. J., Hudecek, M., Jensen, M. C., & Riddell, S. R. (2012) · Current Opinion in Immunology · doi:10.1016/j.coi.2012.06.004 · Cited by 72
Qu, Z., Cui, J., Harata‐Lee, Y., Aung, T. N., Feng, Q., Raison, J. M., Kortschak, R. D., & Adelson, D. L. (2016) · Oncotarget · doi:10.18632/oncotarget.11788 · Cited by 69
Schweiger, M. R., Kerick, M., Timmermann, B., & Isau, M. (2011) · Cancer and Metastasis Reviews · doi:10.1007/s10555-011-9278-z · Cited by 72
Anandakrishnan, R., Varghese, R. T., Kinney, N. A., & Garner, H. R. (2019) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1006881 · Cited by 74
Turakhia, Y., Bejerano, G., & Dally, W. J. (2018) · ACM SIGPLAN Notices · doi:10.1145/3296957.3173193 · Cited by 72
Lekalakala, P. T., Khammissa, R. A. G., Kramer, B., Ayo-Yusuf, O. A., Lemmer, J., & Feller, L. (2015) · Journal of Skin Cancer · doi:10.1155/2015/167847 · Cited by 70
Genetic and environmental melanoma models in fish
Patton, E. E., Mitchell, D. L., & Nairn, R. S. (2010) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2010.00693.x · Cited by 73
Hollstein, M. C., Moriya, M., Grollman, A. P., & Olivier, M. (2013) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2013.02.003 · Cited by 69
Molecular Pathology of Skin Neoplasms of the Head and Neck
Kraft, S., & Granter, S. R. (2014) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2013-0157-ra · Cited by 71
A survey and evaluation of Web-based tools/databases for variant analysis of TCGA data
Zhang, Z., Li, H., Jiang, S., Li, R., Li, W., Chen, H., & Bo, X. (2018) · Briefings in Bioinformatics · doi:10.1093/bib/bby023 · Cited by 73
Hendricks, W. P. D., Zismann, V., Sivaprakasam, K., Legendre, C., Poorman, K. A., Tembe, W., Perdigones, N., Kiefer, J., Liang, W. S., DeLuca, V. J., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007589 · Cited by 67
Epidemiological evidence that UVA radiation is involved in the genesis of cutaneous melanoma
Autier, P., Doré, J., Eggermont, A. M. M., & Coebergh, J. W. W. (2010) · Current Opinion in Oncology · doi:10.1097/cco.0b013e3283436e5d · Cited by 69
Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies
Scatena, C., Murtas, D., & Tomei, S. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.635488 · Cited by 76
Personalized therapies in the cancer "omics" era
Ocaña, A., & Pandiella, A. (2010) · Molecular Cancer · doi:10.1186/1476-4598-9-202 · Cited by 68
Lim, H. W., James, W. D., Rigel, D. S., Maloney, M. E., SPENCER, J. M., & Bhushan, R. (2011) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2010.11.032 · Cited by 68
The three M’s: melanoma, microphthalmia‐associated transcription factor and microRNA
Bell, R. E., & Levy, C. (2011) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2011.00931.x · Cited by 74
DNA methylation/hydroxymethylation in melanoma
Fu, S., Wu, H., Zhang, H., Lian, C. G., & Lu, Q. (2017) · Oncotarget · doi:10.18632/oncotarget.18293 · Cited by 70
Shiraishi, Y., Koya, J., Chiba, K., Okada, A., Arai, Y., Saito, Y., Shibata, T., & Kataoka, K. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad526 · Cited by 66
Sharma, S., Helchowski, C. M., & Canman, C. E. (2012) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2012.11.002 · Cited by 71
Next-generation sequencing and epigenome technologies: potential medical applications
Roukos, D. H. (2010) · Expert Review of Medical Devices · doi:10.1586/erd.10.68 · Cited by 67
Melanomas of unknown primary have a mutation profile consistent with cutaneous sun‐exposed melanoma
Dutton‐Regester, K., Kakavand, H., Aoude, L. G., Stark, M. S., Gartside, M. G., Johansson, P. A., O’Connor, L., Lanagan, C., Tembe, V., Pupo, G. M., et al. (2013) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12153 · Cited by 66
Copy number variation in the cattle genome
Liu, G. E., & Bickhart, D. M. (2012) · Functional & Integrative Genomics · doi:10.1007/s10142-012-0289-9 · Cited by 66
Roukos, D. H. (2010) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.10.10 · Cited by 66
Whole-genome sequencing reveals complex mechanisms of intrinsic resistance to BRAF inhibition
Turajlic, S., Furney, S. J., Stamp, G., Rana, S., Ricken, G., Oduko, Y., Saturno, G., Springer, C. J., Hayes, A., Gore, M. E., et al. (2014) · Annals of Oncology · doi:10.1093/annonc/mdu049 · Cited by 68
Transposon mutagenesis identifies genetic drivers of BrafV600E melanoma
Mann, M. B., Black, M. A., Jones, D. J., Ward, J. M., Yew, C. C. K., Newberg, J. Y., Dupuy, A. J., Rust, A. G., Bosenberg, M., McMahon, M., et al. (2015) · Nature Genetics · doi:10.1038/ng.3275 · Cited by 66
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors
Stehr, H., Jang, S.-H. J., Duarte, J. M., Wierling, C., Lehrach, H. R., Lappé, M., & Lange, B. M. H. (2011) · Molecular Cancer · doi:10.1186/1476-4598-10-54 · Cited by 65
NCG 4.0: the network of cancer genes in the era of massive mutational screenings of cancer genomes
An, Ö., Pendino, V., D’Antonio, M., Ratti, E., Gentilini, M., & Ciccarelli, F. D. (2014) · Database · doi:10.1093/database/bau015 · Cited by 63
Wang, Y., Wee, E. J. H., & Trau, M. (2015) · Chemical Communications · doi:10.1039/c5cc03921e · Cited by 64
Multiple Roles for VEGF in Non-Melanoma Skin Cancer: Angiogenesis and Beyond
Johnson, K. E., & Wilgus, T. A. (2012) · Journal of Skin Cancer · doi:10.1155/2012/483439 · Cited by 66
Shimmer: detection of genetic alterations in tumors using next-generation sequence data
Hansen, N. F., Gartner, J. J., Mei, L., Samuels, Y., & Mullikin, J. C. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt183 · Cited by 64
Patterns of genomic evolution in advanced melanoma
Birkeland, E. E., Zhang, S., Poduval, D. B., Geisler, J., Nakken, S., Vodák, D., Meza‐Zepeda, L. A., Hovig, E. J., Myklebost, O., Knappskog, S., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05063-1 · Cited by 62
Hsp90 as a Gatekeeper of Tumor Angiogenesis: Clinical Promise and Potential Pitfalls
Bohonowych, J. E. S., Gopal, U., & Isaacs, J. S. (2010) · Journal of Oncology · doi:10.1155/2010/412985 · Cited by 64
Unraveling genomic variation from next generation sequencing data
Pavlopoulos, G. A., Oulas, A., Iacucci, E., Sifrim, A., Moreau, Y., Schneider, R., Aerts, J. A., & Iliopoulos, I. (2013) · BioData Mining · doi:10.1186/1756-0381-6-13 · Cited by 63
Pham, M. H., Zada, G., Mosich, G. M., Chen, T. C., Giannotta, S. L., Wang, K., & Mack, W. J. (2011) · Neurosurgical FOCUS · doi:10.3171/2011.2.focus1117 · Cited by 63
Qiao, Y., Quinlan, A. R., Jazaeri, A. A., Verhaak, R. G. W., Wheeler, D. A., & Marth, G. (2014) · Genome biology · doi:10.1186/preaccept-1691129011290725 · Cited by 61
MTSS1 is a metastasis driver in a subset of human melanomas
Mertz, K. D., Pathria, G., Wagner, C., Saarikangas, J., Sboner, A., Romanov, J., Gschaider, M., Lenz, F., Neumann, F., Schreiner, W., et al. (2014) · Nature Communications · doi:10.1038/ncomms4465 · Cited by 61
Self-citationNatrajan, R., Mackay, A. G., Lambros, M. B. K., Weigelt, B., Wilkerson, P. M., Manié, É., Grigoriadis, A. E., A’Hern, R., van der Groep, P., Kozarewa, I., et al. (2012) · The Journal of Pathology · doi:10.1002/path.4003 · Cited by 62
Gray, P. N., Dunlop, C. L. M., & Elliott, A. M. (2015) · Cancers · doi:10.3390/cancers7030837 · Cited by 62
Modeling disease progression using dynamics of pathway connectivity
Ma, X., Gao, L., & Tan, K. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu298 · Cited by 61
Single-cell sequencing of genomic DNA resolves sub-clonal heterogeneity in a melanoma cell line
Velazquez-Villarreal, E. I., Maheshwari, S., Sorenson, J. M., Fiddes, I. T., Kumar, V., Yin, Y., Webb, M. G., Catalanotti, C., Grigorova, M., Edwards, P. A., et al. (2020) · Communications Biology · doi:10.1038/s42003-020-1044-8 · Cited by 61
The effect of next-generation sequencing technology on complex trait research
Day-Williams, A., & Zeggini, E. (2010) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2010.02437.x · Cited by 63
Greif, P. A., Eck, S. H., Konstandin, N. P., Benet‐Pagès, A., Ksienzyk, B., Dufour, A., Vetter, A. T., Popp, H. D., Lorenz‐Depiereux, B., Meitinger, T., et al. (2011) · Leukemia · doi:10.1038/leu.2011.19 · Cited by 61
Resistance patterns with tyrosine kinase inhibitors in melanoma
Dummer, R., & Flaherty, K. T. (2012) · Current Opinion in Oncology · doi:10.1097/cco.0b013e32834fca92 · Cited by 61
An analysis of substitution, deletion and insertion mutations in cancer genes
Iengar, P. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks290 · Cited by 62
Genomic insights into a contagious cancer in Tasmanian devils
Grueber, C. E., Peel, E., Gooley, R. M., & Belov, K. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.05.001 · Cited by 60
Xeroderma pigmentosum genes and melanoma risk
Paszkowska‐Szczur, K., Scott, R. J., Serrano‐Fernández, P., Mirecka, A., Gapska, P., Górski, B., Cybulski, C., Maleszka, R., Sulikowski, M., Nagay, L., et al. (2013) · International Journal of Cancer · doi:10.1002/ijc.28123 · Cited by 60
Robinson, K. M., Sieber, K. B., & Hotopp, J. C. D. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003877 · Cited by 63
Zhong, J., Li, L., Wang, Z., Bai, H., Gai, F., Duan, J., Zhao, J., Zhuo, M., Wang, Y., Wang, S., et al. (2017) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2017.07.032 · Cited by 61
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms
Arora, K. S., Shah, M. J., Johnson, M. E., Sanghvi, R., Shelton, J., Nagulapalli, K., Oschwald, D. M., Zody, M. C., Germer, S., Jobanputra, V., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-55636-3 · Cited by 59
Enhancer-targeted genome editing selectively blocks innate resistance to oncokinase inhibitionPreprint
Webster, D. E., Barajas, B. C., Bussat, R. T., Yan, K., Neela, P. H., Flockhart, R. J., Kovalski, J. R., Zehnder, A. M., & Khavari, P. A. (2014) · Genome Research · doi:10.1101/gr.166231.113 · Cited by 60
Patterns and processes of somatic mutations in nine major cancers
Jia, P., Pao, W. J., & Zhao, Z. (2014) · BMC Medical Genomics · doi:10.1186/1755-8794-7-11 · Cited by 59
Genomic Instability and Cancer Risk Associated with Erroneous DNA Repair
Yoshioka, K., Kusumoto‐Matsuo, R., Matsuno, Y., & Ishiai, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222212254 · Cited by 63
LeBlanc, D., Meier, M., Lo, F. Y., Schmidt, E. K., Valentine, C., Williams, A., Salk, J., Yauk, C., & Marchetti, F. (2022) · BMC Genomics · doi:10.1186/s12864-022-08752-w · Cited by 53
Izawa, K., Hijikata, A., Tanaka, N., Kawai, T., Saito, M. K., Goldbach‐Mansky, R. T., Aksentijevich, I., Yasumi, T., Nakahata, T., Heike, T., et al. (2012) · DNA Research · doi:10.1093/dnares/dsr047 · Cited by 59
The functional relevance of somatic synonymous mutations in melanoma and other cancers
Gotea, V., Gartner, J. J., Qutob, N., Elnitski, L. L., & Samuels, Y. (2015) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12413 · Cited by 59
Assessing the Risks of Genotoxicity in the Therapeutic Development of Induced Pluripotent Stem Cells
Hong, S. G., Dunbar, C. E., & Winkler, T. (2012) · Molecular Therapy · doi:10.1038/mt.2012.255 · Cited by 60
Genetic heterogeneity in breast cancer: the road to personalized medicine?
Baird, R. D., & Caldas, C. (2013) · BMC Medicine · doi:10.1186/1741-7015-11-151 · Cited by 59
Therapy for metastatic melanoma: an overview and update
Boyle, G. M. (2011) · Expert Review of Anticancer Therapy · doi:10.1586/era.11.25 · Cited by 58
Mutation of the PTCH1 gene predicts recurrence of breast cancer
Wang, C., Chang, Y.-C., Kuo, Y., Lee, K., Chen, P., Cheung, C. H. A., Chang, C., Phan, N. N., Shen, M., & Hsu, H. (2019) · Scientific Reports · doi:10.1038/s41598-019-52617-4 · Cited by 58
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
