The DOI matches its Crossref record; 67 of the 67 references it cites were found in a registry or an index.
Signatures of mutational processes in human cancer
Open accessAbstract
All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362 mutations from 7,042 cancers and extracted more than 20 distinct mutational signatures. Some are present in many cancer types, notably a signature attributed to the APOBEC family of cytidine deaminases, whereas others are confined to a single cancer class. Certain signatures are associated with age of the patient at cancer diagnosis, known mutagenic exposures or defects in DNA maintenance, but many are of cryptic origin. In addition to these genome-wide mutational signatures, hypermutation localized to small genomic regions, 'kataegis', is found in many cancer types. The results reveal the diversity of mutational processes underlying the development of cancer, with potential implications for understanding of cancer aetiology, prevention and therapy.
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?
The cited source doesn’t support the claim as written.
In the citing paper
“Five substitution and five rearrangement signatures [8, 9] were identified”
From Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers (2019) · cites this paper as [8]
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“It has also been noted that the 'pol h mutational signature' (Signature 9; http://cancer.sanger.ac.uk/cosmic/sig natures) occurs in chronic lymphocytic leukemia and malignant Bcell lymphoma genomes 6,26,27 .”
From DNA polymerase η mutational signatures are found in a variety of different types of cancer (2018) · cites this paper as [6]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“The use of TAA-derived epitopes has the advantage of allowing development of an off-the-shelf product for a tumour indication with low mutational burden such as GBM, where patients’ tumours express only few tumour-specific antigens [38].”
From Preclinical development of an mRNA-based multiepitope immunotherapeutic for glioblastoma (2025) · cites this paper as [38]
Experimental — accuracy not yet measuredIn the citing paper
“In MM, SBS9, associated with mutations introduced by polymerase η repair of activation-induced deaminase (AID) activity26,31,32, was strongly linked with Q61H”
From The origins and genetic interactions of KRAS mutations are allele- and tissue-specific (2021) · cites this paper as [26]
In the citing paper
“a high SNV burden associated with APOBEC substitution signature [8]”
From Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers (2019) · cites this paper as [8]
In the citing paper
“Several distinct mutational signatures sculpt the genome of NSCLC – including signatures of tobacco exposure and APOBEC-mediated cytidine deamination57.”
From Co-occurring genomic alterations in non-small-cell lung cancer biology and therapy (2019) · cites this paper as [57]
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 [19]
In the citing paper
“Excess C → T transitions are characteristic of several different mutagenic processes including UV damage and cytosine deamination (19).”
From Evidence for recent, population-specific evolution of the human mutation rate (2015) · cites this paper as [19]
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
Comprehensive molecular characterization of human colon and rectal cancer
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11252 · Cited by 8,499
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
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
Mutational heterogeneity in cancer and the search for new cancer-associated genes
Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
Self-citationStratton, M. R., Campbell, P. J., & Futreal, P. A. (2009) · Nature · doi:10.1038/nature07943 · Cited by 3,625
Self-citationSomatic mutations affect key pathways in lung adenocarcinoma
Ding, L., Getz, G., Wheeler, D. A., Mardis, E. R., McLellan, M. D., Cibulskis, K., Sougnez, C., Greulich, H., Muzny, D. M., Morgan, M. B., et al. (2008) · Nature · doi:10.1038/nature07423 · Cited by 2,681
Self-citationA landscape of driver mutations in melanoma
Hodis, E., Watson, I. R., Kryukov, G. V., Arold, S. T., Imielinski, M., Theurillat, J.-P., Nickerson, E., Auclair, D., Li, L., Place, C., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.024 · Cited by 2,610
Self-citationThe Mutational Landscape of Head and Neck Squamous Cell Carcinoma
Stransky, N., Egloff, A. M., Tward, A. D., Kostic, A. D., Cibulskis, K., Sivachenko, A., Kryukov, G. V., Lawrence, M. S., Sougnez, C. L., McKenna, A., et al. (2011) · Science · doi:10.1126/science.1208130 · Cited by 2,541
Self-citationThe mutational landscape of lethal castration-resistant prostate cancer
Grasso, C. S., Wu, Y.-M., Robinson, D. R., Cao, X., Dhanasekaran, S. M., Khan, A. P., Quist, M. J., Jing, X., Lonigro, R. J., Brenner, J. C., et al. (2012) · Nature · doi:10.1038/nature11125 · Cited by 2,517
Microsatellite Instability in Colorectal Cancer
Boland, C. R., & Goel, A. (2010) · Gastroenterology · doi:10.1053/j.gastro.2009.12.064 · Cited by 2,456
International network of cancer genome projects
The International Cancer Genome Consortium (2010) · Nature · doi:10.1038/nature08987 · Cited by 2,299
Self-citationTP53 mutations in human cancers: origins, consequences, and clinical use.
Olivier, M., Hollstein, M., & Hainaut, P. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a001008 · Cited by 2,199
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
Ding, L., Ley, T. J., Larson, D. E., Miller, C. A., Koboldt, D. C., Welch, J. S., Ritchey, J. K., Young, M. A., Lamprecht, T., McLellan, M. D., et al. (2012) · Nature · doi:10.1038/nature10738 · Cited by 1,993
Mutational Processes Molding the Genomes of 21 Breast Cancers
Nik-Zainal, S., Alexandrov, L. B., Wedge, D. C., Van Loo, P., Greenman, C. D., Raine, K., Jones, D., Hinton, J., Marshall, J., Stebbings, L. A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.024 · Cited by 1,909
Self-citationMapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing
Imielinski, M., Berger, A. H., Hammerman, P. S., Hernandez, B., Pugh, T. J., Hodis, E., Cho, J., Suh, J., Capelletti, M., Sivachenko, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.08.029 · Cited by 1,789
Self-citationJiao, Y., Shi, C., Edil, B. H., de Wilde, R. F., Klimstra, D. S., Maitra, A., Schulick, R. D., Tang, L. H., Wolfgang, C. L., Choti, M. A., et al. (2011) · Science · doi:10.1126/science.1200609 · Cited by 1,744
The landscape of cancer genes and mutational processes in breast cancer
Stephens, P. J., Tarpey, P. S., Davies, H. R., Loo, P. V., Greenman, C., Wedge, D. C., Nik‐Zainal, S., Martin, S., Varela, I., Bignell, G. R., et al. (2012) · Nature · doi:10.1038/nature11017 · Cited by 1,731
Self-citationExome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1
Agrawal, N., Frederick, M. J., Pickering, C. R., Bettegowda, C., Chang, K., Li, R. J., Fakhry, C., Xie, T., Zhang, J., Wang, J., et al. (2011) · Science · doi:10.1126/science.1206923 · Cited by 1,697
Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma
Morin, R. D., Mendez-Lago, M., Mungall, A. J., Goya, R., Mungall, K. L., Corbett, R. D., Johnson, N. A., Severson, T. M., Chiu, R., Field, M., et al. (2011) · Nature · doi:10.1038/nature10351 · Cited by 1,614
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Zhang, J., Ding, L., Holmfeldt, L., Wu, G., Heatley, S. L., Payne-Turner, D., Easton, J., Chen, X., Wang, J., Rusch, M., et al. (2012) · Nature · doi:10.1038/nature10725 · Cited by 1,596 · cited 1×
“However,inSupplementaryInformationwealsoprovideavisualizationofmuta-tionalsignaturesbasedonanequalfrequencyofeachtrinucleotide(Supplemen-taryFigs2–28).”
The origin and evolution of mutations in acute myeloid leukemia
Welch, J. S., Ley, T. J., Link, D. C., Miller, C. A., Larson, D. E., Koboldt, D. C., Wartman, L. D., Lamprecht, T. L., Liu, F., Xia, J., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.023 · Cited by 1,575
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer
Barbieri, C. E., Baca, S. C., Lawrence, M. S., Demichelis, F., Blattner, M., Theurillat, J.-P. P., White, T. A., Stojanov, P., Allen, E. M. V., Stransky, N., et al. (2012) · Nature Genetics · doi:10.1038/ng.2279 · Cited by 1,550
Self-citationWhole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
Puente, X. S., Pinyol, M., Quesada, V., Conde, L., Ordóñez, G. R., Villamor, N., Escaramís, G., Jares, P., Beà, S., González, M., et al. (2011) · Nature · doi:10.1038/nature10113 · Cited by 1,529
Self-citationThe Life History of 21 Breast Cancers
Nik-Zainal, S., Van Loo, P., Wedge, D. C., Alexandrov, L. B., Greenman, C. D., Lau, K. W., Raine, K., Jones, D., Marshall, J., Ramakrishna, M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.023 · Cited by 1,443
Self-citationIntegrative genome analyses identify key somatic driver mutations of small-cell lung cancer
Peifer, M., Fernandez‐Cuesta, L., Sos, M. L., George, J., Seidel, D., Kasper, L. H., Plenker, D., Leenders, F., Sun, R., Zander, T., et al. (2012) · Nature Genetics · doi:10.1038/ng.2396 · Cited by 1,404
Self-citationDeciphering Signatures of Mutational Processes Operative in Human Cancer
Alexandrov, L. B., Nik‐Zainal, S., Wedge, D. C., Campbell, P. J., & Stratton, M. R. (2013) · Cell Reports · doi:10.1016/j.celrep.2012.12.008 · Cited by 1,277
Self-citationThe genomic complexity of primary human prostate cancer
Berger, M. F., Lawrence, M. S., Demichelis, F., Drier, Y., Cibulskis, K., Sivachenko, A., Sboner, A., Esgueva, R., Pflueger, D., Sougnez, C. L., et al. (2011) · Nature · doi:10.1038/nature09744 · Cited by 1,232
Self-citationFrequent Mutations of Chromatin Remodeling Gene ARID1A in Ovarian Clear Cell Carcinoma
Jones, S., Wang, T., Shih, I., Mao, T., Nakayama, K., Roden, R. B. S., Glas, R., Slamon, D. J., Diaz, L. A., Vogelstein, B., et al. (2010) · Science · doi:10.1126/science.1196333 · Cited by 1,218
The genetic landscape of high-risk neuroblastoma
Pugh, T. J., Morozova, O., Attiyeh, E. F., Asgharzadeh, S., Wei, J. S., Auclair, D., Carter, S. L., Cibulskis, K., Hanna, M., Kieżun, A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2529 · Cited by 1,198
Self-citationMolecular Mechanisms of Antibody Somatic Hypermutation
Noia, J. M. D., & Neuberger, M. S. (2007) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.76.061705.090740 · Cited by 1,108
Tobacco smoke carcinogens, DNA damage and p53 mutations in smoking-associated cancers
Pfeifer, G. P., Denissenko, M. F., Olivier, M., Tretyakova, N. Y., Hecht, S. S., & Hainaut, P. L. (2002) · Oncogene · doi:10.1038/sj.onc.1205803 · Cited by 1,107
Transcription-coupled DNA repair: two decades of progress and surprises
Hanawalt, P. C., & Spivak, G. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2549 · Cited by 1,081
Rudin, C. M., Durinck, S., Stawiski, E. W., Poirier, J. T., Modrusan, Z. D., Shames, D. S., Bergbower, E. A. S., Guan, Y., Shin, J., Guillory, J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2405 · Cited by 1,076
Quesada, V., Conde, L., Villamor, N., Ordóñez, G. R., Jares, P., Bassaganyas, L., Ramsay, A. J., Beà, S., Pinyol, M., Martínez‐Trillos, A., et al. (2011) · Nature Genetics · doi:10.1038/ng.1032 · Cited by 1,022
Self-citationBAP1 loss defines a new class of renal cell carcinoma
Peña‐Llopis, S., Vega-Rubín-de-Celis, S., Liao, A., Leng, N., Pavía-Jiménez, A., Wang, S., Yamasaki, T., Zhrebker, L., Sivanand, S., Spence, P., et al. (2012) · Nature Genetics · doi:10.1038/ng.2323 · Cited by 990
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Fu, W., O’Connor, T. D., Jun, G., Kang, H. M., Abecasis, G. R., Leal, S. M., Gabriel, S., Rieder, M. J., Altshuler, D., Shendure, J., et al. (2012) · Nature · doi:10.1038/nature11690 · Cited by 969
Recurrent R-spondin fusions in colon cancer
Seshagiri, S., Stawiski, E. W., Durinck, S., Modrusan, Z., Storm, E. E., Conboy, C. B., Chaudhuri, S., Guan, Y., Janakiraman, V., Jaiswal, B. S., et al. (2012) · Nature · doi:10.1038/nature11282 · Cited by 960
Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas
Zhang, J., Wu, G., Parker, M. D., Huether, R., Chen, X. '., Hedlund, E., Nagahawatte, P., Rusch, M., Becksfort, J. B., Li, Y., et al. (2013) · Nature Genetics · doi:10.1038/ng.2611 · Cited by 843
APOBEC3B is an enzymatic source of mutation in breast cancer
Burns, M. B., Lackey, L., Carpenter, M. A., Rathore, A. S., Land, A. M., Leonard, B. C., Refsland, E. W., Kotandeniya, D., Tretyakova, N. Y., Nikas, J. B., et al. (2013) · Nature · doi:10.1038/nature11881 · Cited by 835
Mutations induced by ultraviolet light
Pfeifer, G. P., You, Y., & Nia, A. B. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2004.06.057 · Cited by 798
Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer
Wang, K., Kan, J., Yuen, S. T., Shi, S. T., Chu, K., Law, S. Y.-K., Chan, T. L., Kan, Z., Chan, A. S. Y., Tsui, W. Y., et al. (2011) · Nature Genetics · doi:10.1038/ng.982 · Cited by 781
Melanoma genome sequencing reveals frequent PREX2 mutations
Berger, M. F., Hodis, E., Heffernan, T. P., Deribe, Y. L., Lawrence, M. S., Protopopov, A., Ivanova, E., Watson, I. R., Nickerson, E., Ghosh, P., et al. (2012) · Nature · doi:10.1038/nature11071 · Cited by 756
Self-citationThe genomic landscape of hypodiploid acute lymphoblastic leukemia
Holmfeldt, L., Wei, L., Díaz-Flores, E., Walsh, M. F., Zhang, J., Ding, L., Payne-Turner, D., Churchman, M. L., Andersson, A., Chen, S.-C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2532 · Cited by 738
Dulak, A. M., Stojanov, P., Peng, S., Lawrence, M. S., Fox, C., Stewart, C., Bandla, S., Imamura, Y., Schumacher, S. E., Shefler, E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2591 · Cited by 736
Wu, J., Jiao, Y., Molin, M. D., Maitra, A., de Wilde, R. F., Wood, L. D., Eshleman, J. R., Goggins, M., Wolfgang, C. L., Canto, M. I., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1118046108 · Cited by 652
Zang, Z. J., Cutcutache, I., Poon, S. L., Zhang, S. L., McPherson, J. R., Tao, J., Rajasegaran, V., Heng, H. L., Deng, N., Gan, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2246 · Cited by 622
The genetic landscape of mutations in Burkitt lymphoma
Love, C., Sun, Z., Jima, D. D., Li, G., Zhang, J., Miles, R. R., Richards, K. L., Dunphy, C. H., Choi, W. W. L., Srivastava, G., et al. (2012) · Nature Genetics · doi:10.1038/ng.2468 · Cited by 609
RNA Editing Enzyme APOBEC1 and Some of Its Homologs Can Act as DNA Mutators
Harris, R. S., Petersen‐Mahrt, S. K., & Neuberger, M. S. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00742-6 · Cited by 609
The transcriptional landscape and mutational profile of lung adenocarcinomaPreprint
Seo, J., Ju, Y. S., Lee, W., Shin, J.-Y., Lee, J. J.-K., Bleazard, T., Lee, J., Jung, Y. J., Kim, J. O., Shin, J.-Y., et al. (2012) · Genome Research · doi:10.1101/gr.145144.112 · Cited by 603
Keersmaecker, K. D., Atak, Z. K., Li, N., Vicente, C., Patchett, S., Girardi, T., Gianfelici, V., Geerdens, E., Clappier, E., Porcu, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.2508 · Cited by 445
Hunter, C., Smith, R., Cahill, D. P., Stephens, P., Stevens, C., Teague, J. W., Greenman, C., Edkins, S., Bignell, G. R., Davies, H. R., et al. (2006) · Cancer Research · doi:10.1158/0008-5472.can-06-0127 · Cited by 431
Self-citationZhang, H., Li, D., Zhao, L., Fleming, J., Lin, N., Wang, T., Liu, Z., Li, C., Galwey, N. W., Deng, J., et al. (2013) · Nature Genetics · doi:10.1038/ng.2735 · Cited by 429
Sausen, M., Leary, R. J., Jones, S., Wu, J., Reynolds, C. P., Liu, X., Blackford, A. L., Parmigiani, G., Diaz, L. A., Papadopoulos, N., et al. (2012) · Nature Genetics · doi:10.1038/ng.2493 · Cited by 417
Taylor, B., Nik‐Zainal, S., Wu, Y. L., Stebbings, L. A., Raine, K. M., Campbell, P. J., Rada, C. A., Stratton, M. R., & Neuberger, M. S. (2013) · eLife · doi:10.7554/elife.00534 · Cited by 376
Self-citationThompson, L. H. (2012) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2012.06.002 · Cited by 357
Guo, G., Gui, Y., Gao, S., Tang, A., Hu, X., Huang, Y., Jia, W., Li, Z., He, M., Sun, L. T., et al. (2011) · Nature Genetics · doi:10.1038/ng.1014 · Cited by 326
Mutagenesis at Methylated CpG Sequences
Pfeifer, G. P. (2006) · Springer eBooks · doi:10.1007/3-540-31390-7_10 · Cited by 269
Stark, M. S., Woods, S. L., Gartside, M. G., Bonazzi, V., Dutton‐Regester, K., Aoude, L. G., Chow, D. C., Sereduk, C., Niemi, N. M., Tang, N., et al. (2011) · Nature Genetics · doi:10.1038/ng.1041 · Cited by 189
Noncanonical Mismatch Repair as a Source of Genomic Instability in Human Cells
Peña-Dı́az, J., Bregenhorn, S., Ghodgaonkar, M. M., Follonier, C., Borán, M. S., Castor, D., Lopes, M., Sartori, A. A., & Jiricny, J. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.07.006 · Cited by 150
Noncanonical Mismatch Repair as a Source of Genomic Instability in Human Cells
Peña-Dı́az, J., Bregenhorn, S., Ghodgaonkar, M. M., Follonier, C., Borán, M. S., Castor, D., Lopes, M., Sartori, A. A., & Jiricny, J. (2017) · Molecular Cell · doi:10.1016/j.molcel.2017.06.026 · Cited by 132
Intrinsic immunity against retrotransposons by APOBEC cytidine deaminases
Koito, A., & Ikeda, T. (2013) · Frontiers in Microbiology · doi:10.3389/fmicb.2013.00028 · Cited by 103
Pickrell, J. K., Gaffney, D. J., Gilad, Y., & Pritchard, J. K. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr354 · Cited by 78
Environmental exposures and mutational patterns of cancer genomes
Pfeifer, G. P. (2010) · Genome Medicine · doi:10.1186/gm175 · Cited by 74
Baumbusch, L. O., Aarøe, J., Johansen, F., Hicks, J. B., Sun, H., Bruhn, L., Gunderson, K. L., Naume, B., Kristensen, V. N., Liestøl, K., et al. (2008) · BMC Genomics · doi:10.1186/1471-2164-9-379 · Cited by 64
Self-citationTomita‐Mitchell, A., Kat, A. G., Marcelino, L. A., Li-Sucholeiki, X., Goodluck-Griffith, J., & Thilly, W. G. (2000) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(00)00020-8 · Cited by 41
Taylor, B., Nik‐Zainal, S., Wu, Y. L., Stebbings, L. A., Raine, K. M., Campbell, P. J., Rada, C. A., Stratton, M. R., & Neuberger, M. S. (2013) · eLife · doi:10.7554/elife.00534.017 · Cited by 5
Self-citation
Cited by
Sorted by citations
The cancer genome atlas pan-cancer analysis project
The Cancer Genome Atlas Research Network, Weinstein, J. N., Collisson, E. A., Mills, G. B., Shaw, K. R. M., Ozenberger, B. A., Ellrott, K., Shmulevich, I., Sander, C., & Stuart, J. M. (2013) · Nature Genetics · doi:10.1038/ng.2764 · Cited by 9,092
Mutational landscape determines sensitivity to PD-1 blockade in non–small cell lung cancer
Rizvi, N. A., Hellmann, M. D., Snyder, A., Kvistborg, P., Makarov, V., Havel, J. J., Lee, W., Yuan, J., Wong, P., Ho, T. S., et al. (2015) · Science · doi:10.1126/science.aaa1348 · Cited by 7,802
Self-citationLlovet, J. M., Kelley, R. K., Villanueva, A., Singal, A. G., Pikarsky, E., Roayaie, S., Lencioni, R., Koike, K., Zucman-Rossi, J., & Finn, R. S. (2021) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-00240-3 · Cited by 7,055
Self-citationPembrolizumab for the Treatment of Non–Small-Cell Lung Cancer
Garon, E. B., Rizvi, N. A., Hui, R., Leighl, N., Balmanoukian, A. S., Eder, J. P., Patnaik, A., Aggarwal, C., Gubens, M., Horn, L., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1501824 · Cited by 6,198
TGFβ attenuates tumour response to PD-L1 blockade by contributing to exclusion of T cells
Mariathasan, S., Turley, S. J., Nickles, D., Castiglioni, A., Yuen, K., Wang, Y., Kadel III, E. E., Koeppen, H., Astarita, J. L., Cubas, R., et al. (2018) · Nature · doi:10.1038/nature25501 · Cited by 5,400
Metadata
- Authors
- 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., Bignell, G. R., Bolli, N., Borg, A., Børresen-Dale, A.-L., Boyault, S., Burkhardt, B., Butler, A. P., Caldas, C., Davies, H. R., Desmedt, C., Eils, R., Eyfjörd, J. E., Foekens, J. A., Greaves, M., Hosoda, F., Hutter, B., Ilicic, T., Imbeaud, S., Imielinski, M., Jäger, N., Jones, D. T. W., Jones, D., Knappskog, S., Kool, M., Lakhani, S. R., López-Otín, C., Martin, S., Munshi, N. C., Nakamura, H., Northcott, P. A., Pajic, M., Papaemmanuil, E., Paradiso, A., Pearson, J. V., Puente, X. S., Raine, K., Ramakrishna, M., Richardson, A. L., Richter, J., Rosenstiel, P., Schlesner, M., Schumacher, T. N., Span, P. N., Teague, J. W., Totoki, Y., Tutt, A. N. J., Valdés-Mas, R., van Buuren, M. M., van ’t Veer, L., Vincent-Salomon, A., Waddell, N., Yates, L. R., Zucman-Rossi, J., Andrew Futreal, P., McDermott, U., Lichter, P., Meyerson, M., Grimmond, S. M., Siebert, R., Campo, E., Shibata, T., Pfister, S. M., Campbell, P. J., & Stratton, M. R.
- Affiliations
- Wellcome Sanger Institute (GB)
- BC Cancer Agency (CA)
- University of Cambridge (GB)
- Garvan Institute of Medical Research (AU)
- Lund University (SE)
- Oslo University Hospital (NO)
- Justus-Liebig-Universität Gießen (DE)
- Université Libre de Bruxelles (BE)
- German Cancer Research Center (DE)
- Erasmus MC Cancer Institute (NL)
- Inserm (FR)
- Broad Institute (US)
- The University of Queensland (AU)
- Universidad de Oviedo (ES)
- Harvard University (US)
- National Cancer Center Research Institute (JP)
- University of Glasgow (GB)
- Brigham and Women's Hospital (US)
- The Netherlands Cancer Institute (NL)
- Radboud University Medical Center (NL)
- King's College London (GB)
- Christian-Albrechts-Universität zu Kiel (DE)
- Corresponding author
- Stratton, Michael R.
- ORCID
- Alexandrov, Ludmil B.
- Wedge, David C.
- Aparicio, Samuel A. J. R.
- Behjati, Sam
- Biankin, Andrew V.
- Bolli, Niccolò
- Boyault, Sandrine
- Burkhardt, Birgit
- Caldas, Carlos
- Davies, Helen R.
- Desmedt, Christine
- Eils, Roland
- Hutter, Barbara
- Imbeaud, Sandrine
- Imielinski, Marcin
- Jäger, Natalie
- Knappskog, Stian
- Kool, Marcel
- Lakhani, Sunil R.
- Martin, Sancha
- Munshi, Nikhil C.
- Nakamura, Hiromi
- Northcott, Paul A.
- Pajic, Marina
- Papaemmanuil, Elli
- Paradiso, Angelo
- Pearson, John V.
- Raine, Keiran
- Ramakrishna, Manasa
- Richardson, Andrea L.
- Richter, Julia
- Rosenstiel, Philip
- Schlesner, Matthias
- Schumacher, Ton N.
- Span, Paul N.
- Teague, Jon W.
- Totoki, Yasushi
- Tutt, Andrew N. J.
- Waddell, Nicola
- Yates, Lucy R.
- McDermott, Ultan
- Meyerson, Matthew
- Grimmond, Sean M.
- Siebert, Reiner
- Shibata, Tatsuhiro
- Pfister, Stefan M.
- Campbell, Peter J.
- Stratton, Michael R.
- Venue
- Nature
- Published
- 2013-08-14
- Volume
- 500
- Issue
- 7463
- Pages
- 415-421
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3776390
- OpenAlex
- W2152061559
- Cited by
- 9,660
- References
- 67
- Citations by year
- 2026: 384 · 2025: 552 · 2024: 643 · 2023: 854 · 2022: 921 · 2021: 1119 · 2020: 1130 · 2019: 939 · 2018: 873 · 2017: 815 · 2016: 660 · 2015: 421 · 2014: 286 · 2013: 45
- FWCI
- 165.61
- Type
- journal article
- Language
- en
- Update notices
- erratum (2013-10-09)
- Open access
- bronze
- doi.org
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- HAL (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Consultation of the Doctoral Thesis Database (TESEO) (Ministerio de Educación, Cultura y Deporte) (submittedVersion, cc-by-nc-nd)
- Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- OPUS (Augsburg University) (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Funders
- Deutsches Krebsforschungszentrum (69120)
- Wellcome Trust (088340, 093867, 098051)
- Broad Institute
- Canada's Michael Smith Genome Sciences Centre
- Cancer Research UK
- University of Glasgow
- Agence Nationale de la Recherche (ANR-10-LABX-0015)
- Institut National de la Santé et de la Recherche Médicale
- University of New South Wales
- Lunds Universitet
- Universitetet i Oslo
- Háskóli Íslands
- Universitat de Barcelona
- BC Cancer Agency
- Labex Immuno-Oncology
- Medisinske fakultet, Universitetet i Oslo
- Cancer Research UK Cambridge Institute, University of Cambridge
- National Cancer Institute (T32CA009216)
- 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, cancer genome, APOBEC cytidine deaminases, kataegis, hypermutation, patient age, cancer etiology, cancer types
- MeSH terms
- Aging, Algorithms, Cell Transformation, Neoplastic, Cytidine Deaminase, DNA, DNA Mutational Analysis, Humans, Models, Genetic, Mutagens, Mutation, Neoplasms, Organ Specificity, Transcription, Genetic, Reproducibility of Results, Mutagenesis, Insertional, Mutagenesis, Sequence Deletion
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
