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 to T transitions, 28% of which are TCC to T mutations.
“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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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 · see citing works
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 10,838 · see citing works
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 9,387 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Self-citationStratton, M. R., Campbell, P. J., & Futreal, P. A. (2009) · Nature · doi:10.1038/nature07943 · Cited by 3,459 · see citing works
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 · see citing works
Self-citationPatterns of somatic mutation in human cancer genomes
Greenman, C. D., Stephens, P., Smith, R., Dalgliesh, G. L., Hunter, C., Bignell, G. R., Davies, H. R., Teague, J. W., Butler, A. P., Stevens, C., et al. (2007) · Nature · doi:10.1038/nature05610 · Cited by 3,062 · see citing works
Self-citationThe Genomic Landscapes of Human Breast and Colorectal Cancers
Wood, L. D., Parsons, D. W., Jones, S., Lin, J., Sjöblom, T., Leary, R. J., Shen, D., Boca, S. M., Barber, T., Ptak, J., et al. (2007) · Science · doi:10.1126/science.1145720 · Cited by 2,833 · see citing works
Somatic 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 · see citing works
Mapping short DNA sequencing reads and calling variants using mapping quality scores
Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research · doi:10.1101/gr.078212.108 · Cited by 2,638 · see citing works
Recurring mutations found by sequencing an acute myeloid leukemia genome
Mardis, E. R., Ding, L., Dooling, D. J., Larson, D. E., McLellan, M. D., Chen, K., Koboldt, D. C., Fulton, R. S., Delehaunty, K. D., McGrath, S. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0903840 · Cited by 2,219 · see citing works
Ye, K., Schulz, M. H., Long, Q., Apweiler, R., & Ning, Z. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp394 · Cited by 1,978 · see citing works
Self-citationThe epidemiology of UV induced skin cancer
Armstrong, B. K., & Kricker, A. (2001) · Journal of Photochemistry and Photobiology B: Biology · doi:10.1016/s1011-1344(01)00198-1 · Cited by 1,811 · see citing works
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
Ley, T. J., Mardis, E. R., Ding, L., Fulton, B., McLellan, M. D., Chen, K., Dooling, D. J., Dunford-Shore, B. H., McGrath, S. D., Hickenbotham, M. T., et al. (2008) · Nature · doi:10.1038/nature07485 · Cited by 1,415 · see citing works
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 1,038 · see citing works
Autophagic and tumour suppressor activity of a novel Beclin1-binding protein UVRAG
Liang, C., Feng, P., Ku, B., Dotan, I., Canaani, D., Oh, B., & Jung, J. U. (2006) · Nature Cell Biology · doi:10.1038/ncb1426 · Cited by 1,025 · see citing works
Campbell, P. J., Stephens, P. J., Pleasance, E., O’Meara, S., Li, H., Santarius, T., Stebbings, L. A., Leroy, C., Edkins, S., Hardy, C. W., et al. (2008) · Nature Genetics · doi:10.1038/ng.128 · Cited by 812 · see citing works
Self-citationMutations 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 770 · see citing works
Epidemiology of Melanoma and Nonmelanoma Skin Cancer—The Role of Sunlight
Leiter, U., & Garbe, C. (2009) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-77574-6_8 · Cited by 721 · see citing works
Robertson, A. B., Klungland, A., Rognes, T., & Leiros, I. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-8736-z · Cited by 652 · see citing works
Mitochondrial DNA mutations in human cancer
Chatterjee, A., Mambo, E., & Sidransky, D. (2006) · Oncogene · doi:10.1038/sj.onc.1209604 · Cited by 586 · see citing works
Fousteri, M., & Mullenders, L. H. (2008) · Cell Research · doi:10.1038/cr.2008.6 · Cited by 487 · see citing works
Kawanishi, S., Hiraku, Y., & Oikawa, S. (2001) · Mutation Research/Reviews in Mutation Research · doi:10.1016/s1383-5742(00)00059-4 · Cited by 435 · see citing works
DNA Repair in Mammalian Cells: Nucleotide excision repair: variations on versatility
Nouspikel, T. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-8737-y · Cited by 330 · see citing works
TP53 mutations in human skin cancers
Giglia‐Mari, G., & Sarasin, A. R. (2003) · Human Mutation · doi:10.1002/humu.10179 · Cited by 293 · see citing works
Eukaryotic nucleotide excision repair: from understanding mechanisms to influencing biology
Shuck, S. C., Short, E. A., & Turchi, J. J. (2008) · Cell Research · doi:10.1038/cr.2008.2 · Cited by 279 · see citing works
Oettgen, P., Finger, E., Sun, Z., Akbarali, Y., Thamrongsak, U., Boltax, J., Grall, F., Dube, A., Weiss, A., Brown, L., et al. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.2.1216 · Cited by 268 · see citing works
Mutational spectra of human cancer
Pfeifer, G. P., & Nia, A. B. (2009) · Human Genetics · doi:10.1007/s00439-009-0657-2 · Cited by 177 · see citing works
Statistical Analysis of Pathogenicity of Somatic Mutations in Cancer
Greenman, C., Wooster, R., Futreal, P. A., Stratton, M. R., & Easton, D. F. (2006) · Genetics · doi:10.1534/genetics.105.044677 · Cited by 163 · see citing works
Self-citationAnalysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma
Palavalli, L. H., Prickett, T. D., Wunderlich, J. R., Wei, X., Burrell, A. S., Porter-Gill, P. A., Davis, S. R., Wang, C., Cronin, J. C., Agrawal, N., et al. (2009) · Nature Genetics · doi:10.1038/ng.340 · Cited by 161 · see citing works
Futreal, P. A., Kasprzyk, A., Birney, E., Mullikin, J. C., Wooster, R., & Stratton, M. R. (2001) · Nature · doi:10.1038/35057046 · Cited by 152 · see citing works
Self-citationDaya-Grosjean, L., & Sarasin, A. (2005) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2004.11.013 · Cited by 142 · see citing works
Human Ccr4‐Not complex is a ligand‐dependent repressor of nuclear receptor‐mediated transcription
Winkler, G. S., Mulder, K. W., Bardwell, V. J., Kalkhoven, E., & Timmers, H. T. M. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601194 · Cited by 98 · see citing works
Sood, A. K., Saxena, R., Groth, J., Desouki, M. M., Cheewakriangkrai, C., Rodabaugh, K. J., Kasyapa, C. S., & Geradts, J. (2007) · Human Pathology · doi:10.1016/j.humpath.2007.03.010 · Cited by 65 · see citing works
Scaglioni, P. P., & Pandolfi, P. P. (2007) · Springer eBooks · doi:10.1007/978-3-540-34594-7_6 · Cited by 47 · see citing works
Ghadersohi, A., Odunsi, K. O., Zhang, S., Azrak, R. G., Bundy, B. N., Manjili, M. H., & Li, F. (2008) · International Journal of Cancer · doi:10.1002/ijc.23667 · Cited by 29 · see citing works
Cytogenetic homogeneity in eight independent sites in a case of malignant melanoma
Morse, H. G., & Moore, G. E. (1993) · Cancer Genetics and Cytogenetics · doi:10.1016/0165-4608(93)90083-x · Cited by 23 · see citing works
Teitz, T., Penner, M., Eli, D., Stark, M., Bakhanashvili, M., Naiman, T., & Canaani, D. (1990) · Gene · doi:10.1016/0378-1119(90)90316-j · Cited by 23 · see citing works
Flagged first, then by citations
1 of the 43 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,216 · see citing works
Li, H. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr509 · Cited by 6,283 · see citing works
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 · see citing works
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Cibulskis, K., Lawrence, M. S., Carter, S. L., Sivachenko, A., Jaffe, D. B., Sougnez, C. L., Gabriel, S., Meyerson, M. M., Lander, E. S., & Getz, G. A. (2013) · Nature Biotechnology · doi:10.1038/nbt.2514 · Cited by 4,838 · see citing works
The DNA Damage Response: Making It Safe to Play with Knives
Ciccia, A., & Elledge, S. J. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.09.019 · Cited by 4,368 · see citing works
Integrative Genomic Profiling of Human Prostate Cancer
Taylor, B. S., Schultz, N. D., Hieronymus, H., Gopalan, A., Xiao, Y., Carver, B. S., Arora, V. K., Kaushik, P., Cerami, E. G., Reva, B. A., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.05.026 · Cited by 3,653 · see citing works
Mermel, C. H., Schumacher, S. E., Hill, B., Meyerson, M. M., Beroukhim, R., & Getz, G. A. (2011) · Genome biology · doi:10.1186/gb-2011-12-4-r41 · Cited by 3,469 · see citing works
Pan-cancer analysis of whole genomes
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature · doi:10.1038/s41586-020-1969-6 · Cited by 3,064 · see citing works
A 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 · see citing works
Self-citationZhan, T., Rindtorff, N., & Boutros, M. (2017) · Oncogene · doi:10.1038/onc.2016.304 · Cited by 2,626 · see citing works
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414 · see citing works
Self-citationLandscape of somatic mutations in 560 breast cancer whole-genome sequences
Nik-Zainal, S., Davies, H., Staaf, J., Ramakrishna, M., Glodzik, D., Zou, X., Martincorena, I., Alexandrov, L. B., Martin, S., Wedge, D. C., et al. (2016) · Nature · doi:10.1038/nature17676 · Cited by 2,218 · see citing works
Self-citationCOSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
Forbes, S. A., Bindal, N., Bamford, S., Cole, C., Kok, C. Y., Beare, D., Jia, M., Shepherd, R., Leung, K., Menzies, A., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq929 · Cited by 2,278 · see citing works
Self-citationInternational network of cancer genome projects
The International Cancer Genome Consortium (2010) · Nature · doi:10.1038/nature08987 · Cited by 2,299 · see citing works
Self-citationAbsolute quantification of somatic DNA alterations in human cancer
Carter, S. L., Cibulskis, K., Helman, E., McKenna, A., Shen, H., Zack, T. I., Laird, P. W., Onofrio, R. C., Winckler, W., Weir, B. A., et al. (2012) · Nature Biotechnology · doi:10.1038/nbt.2203 · Cited by 2,003 · see citing works
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 · see citing works
Self-citationPredicting the functional impact of protein mutations: application to cancer genomics
Reva, B. A., Antipin, Y., & Sander, C. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr407 · Cited by 1,987 · see citing works
D'Orazio, J., Jarrett, S., Amaro-Ortiz, A., & Scott, T. (2013) · International Journal of Molecular Sciences · doi:10.3390/ijms140612222 · Cited by 1,984 · see citing works
High burden and pervasive positive selection of somatic mutations in normal human skin
Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S., Wedge, D. C., Fullam, A., Alexandrov, L. B., Tubio, J. M., et al. (2015) · Science · doi:10.1126/science.aaa6806 · Cited by 1,770 · see citing works
Self-citationUniversal Patterns of Selection in Cancer and Somatic Tissues
Martincorena, I., Raine, K. M., Gerstung, M., Dawson, K. J., Haase, K., Van Loo, P., Davies, H., Stratton, M. R., & Campbell, P. J. (2017) · Cell · doi:10.1016/j.cell.2017.09.042 · Cited by 1,523 · see citing works
Self-citationStrelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
Saunders, C. T., Wong, W. S. W., Swamy, S., Becq, J., Murray, L. J., & Cheetham, R. K. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts271 · Cited by 1,589 · see citing works
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 · see citing works
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 1,512 · see citing works
Self-citationSC3: consensus clustering of single-cell RNA-seq data
Kiselev, V. Y., Kirschner, K., Schaub, M. T., Andrews, T., Yiu, A., Chandra, T., Natarajan, K. N., Reik, W., Barahona, M., Green, A. R., et al. (2017) · Nature Methods · doi:10.1038/nmeth.4236 · Cited by 1,500 · see citing works
Mutations in GNA11 in Uveal Melanoma
Raamsdonk, C. D. V., Griewank, K., Crosby, M. B., Garrido, M. C., Vemula, S. S., Wiesner, T., Obenauf, A. C., Wackernagel, W., Green, G., Bouvier, N., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1000584 · Cited by 1,481 · see citing works
The exposome: from concept to utility
Wild, C. P. (2012) · International Journal of Epidemiology · doi:10.1093/ije/dyr236 · Cited by 1,416 · see citing works
Initial genome sequencing and analysis of multiple myeloma
Chapman, M. A., Lawrence, M. S., Keats, J. J., Cibulskis, K., Sougnez, C. L., Schinzel, A. C., Harview, C. L., Brunet, J.-P., Ahmann, G. J., Adli, M., et al. (2011) · Nature · doi:10.1038/nature09837 · Cited by 1,422 · see citing works
Somatic mutation in cancer and normal cells
Martincorena, I., & Campbell, P. J. (2015) · Science · doi:10.1126/science.aab4082 · Cited by 1,396 · see citing works
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 1,390 · see citing works
The patterns and dynamics of genomic instability in metastatic pancreatic cancer
Campbell, P. J., Yachida, S., Mudie, L. J., Stephens, P. J., Pleasance, E. D., Stebbings, L. A., Morsberger, L. A., Latimer, C., McLaren, S., Lin, M.-L., et al. (2010) · Nature · doi:10.1038/nature09460 · Cited by 1,317 · see citing works
Self-citationLessons from the Cancer Genome
Garraway, L. A., & Lander, E. S. (2013) · Cell · doi:10.1016/j.cell.2013.03.002 · Cited by 1,322 · see citing works
A compendium of mutational cancer driver genes
Martínez-Jiménez, F., Muiños, F., Sentís, I., Deu-Pons, J., Reyes-Salazar, I., Arnedo-Pac, C., Mularoni, L., Pich, O., Bonet, J., Kranas, H., et al. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-0290-x · Cited by 1,278 · see citing works
Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting
Matsushita, H., Vesely, M. D., Koboldt, D. C., Rickert, C. G., Uppaluri, R., Magrini, V. J., Arthur, C. D., White, J. M., Chen, Y.-S., Shea, L. K., et al. (2012) · Nature · doi:10.1038/nature10755 · Cited by 1,285 · see citing works
The 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 1,213 · see citing works
Self-citationAllele-specific copy number analysis of tumors
Loo, P. V., Nord, S., Lingjærde, O. C., Russnes, H. G., Rye, I. H., Sun, W., Weigman, V., Marynen, P., Zetterberg, A., Naume, B., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1009843107 · Cited by 1,231 · see citing works
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
Krauthammer, M., Kong, Y., Ha, B. H., Evans, P., Bacchiocchi, A., McCusker, J. P., Cheng, E., Davis, M. J., Goh, G., Choi, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.2359 · Cited by 1,191 · see citing works
Sequence analysis of mutations and translocations across breast cancer subtypes
Banerji, S. O., Cibulskis, K., Rangel‐Escareño, C., Brown, K., Carter, S. L., Frederick, A. M., Lawrence, M. S., Sivachenko, A., Sougnez, C. L., Zou, L., et al. (2012) · Nature · doi:10.1038/nature11154 · Cited by 1,181 · see citing works
Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-Smokers
Govindan, R., Ding, L., Griffith, M., Subramanian, J., Dees, N. D., Kanchi, K., Maher, C. A., Fulton, R. S., Fulton, L., Wallis, J. W., et al. (2012) · Cell · doi:10.1016/j.cell.2012.08.024 · Cited by 1,144 · see citing works
Genome remodelling in a basal-like breast cancer metastasis and xenograft
Ding, L., Ellis, M. J., Li, S., Larson, D. E., Chen, K., Wallis, J. W., Harris, C. C., McLellan, M. D., Fulton, R. S., Fulton, L., et al. (2010) · Nature · doi:10.1038/nature08989 · Cited by 1,134 · see citing works
Self-citationAdvances in understanding cancer genomes through second-generation sequencing
Meyerson, M. M., Gabriel, S., & Getz, G. A. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2841 · Cited by 1,114 · see citing works
Somatic coding mutations in human induced pluripotent stem cells
Gore, A., Li, Z., Fung, H.-L., Young, J. E., Agarwal, S., Antosiewicz-Bourget, J., Canto, I., Giorgetti, A., Israel, M. A., Kiskinis, E., et al. (2011) · Nature · doi:10.1038/nature09805 · Cited by 1,273 · see citing works
Wang, K., Yuen, S. T., Xu, J., Lee, S. P., Yan, H. H. N., Shi, S. T., Siu, H. C., Deng, S., Chu, K. M., Law, S., et al. (2014) · Nature Genetics · doi:10.1038/ng.2983 · Cited by 1,045 · see citing works
Whole-genome analysis informs breast cancer response to aromatase inhibition
Ellis, M. J., Ding, L., Shen, D., Luo, J. R., Suman, V. J., Wallis, J. W., Tine, B. A. V., Hoog, J., Goiffon, R., Goldstein, T. C., et al. (2012) · Nature · doi:10.1038/nature11143 · Cited by 1,023 · see citing works
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 987 · see citing works
Self-citationEGFR Mutations and Lung Cancer
Santos, G. D. C., Shepherd, F. A., & Tsao, M. (2011) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130206 · Cited by 948 · see citing works
Tissue-specific mutation accumulation in human adult stem cells during life
Blokzijl, F., de Ligt, J., Jager, M., Sasselli, V., Roerink, S., Sasaki, N., Huch, M., Boymans, S., Kuijk, E., Prins, P., et al. (2016) · Nature · doi:10.1038/nature19768 · Cited by 935 · see citing works
Self-citationCancer Stem Cells: Basic Concepts and Therapeutic Implications
Nassar, D., & Blanpain, C. (2016) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-012615-044438 · Cited by 869 · see citing works
Fujimoto, A., Totoki, Y., Abe, T., Boroevich, K. A., Hosoda, F., Hà, N. H., Aoki, M., Hosono, N., Kubo, M., Miya, F., et al. (2012) · Nature Genetics · doi:10.1038/ng.2291 · Cited by 868 · see citing works
Landscape of genomic alterations in cervical carcinomas
Ojesina, A. I., Lichtenstein, L., Freeman, S. S., Pedamallu, C. S., Imaz-Rosshandler, I., Pugh, T. J., Cherniack, A. D., Ambrogio, L., Cibulskis, K., Bertelsen, B. I., et al. (2013) · Nature · doi:10.1038/nature12881 · Cited by 861 · see citing works
Mechanisms underlying mutational signatures in human cancers
Helleday, T., Eshtad, S., & Nik‐Zainal, S. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3729 · Cited by 841 · see citing works
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
Zook, J. M., Chapman, B., Wang, J., Mittelman, D., Hofmann, O., Hide, W., & Salit, M. (2014) · Nature Biotechnology · doi:10.1038/nbt.2835 · Cited by 800 · see citing works
Exploiting the Mutanome for Tumor Vaccination
Castle, J. C., Kreiter, S., Diekmann, J., Löwer, M., van de Roemer, N., de Graaf, J., Selmi, A., Diken, M., Boegel, S., Paret, C., et al. (2012) · Cancer Research · doi:10.1158/0008-5472.can-11-3722 · Cited by 802 · see citing works
Systems biology of cisplatin resistance: past, present and future
Galluzzi, L., Vitale, I., Michels, J., Brenner, C., Szabadkai, G., Harel-Bellan, A., Castedo, M., & Kroemer, G. (2014) · Cell Death & Disease · doi:10.1038/cddis.2013.428 · Cited by 782 · see citing works
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes
Totoki, Y., Tatsuno, K., Covington, K. R., Ueda, H., Creighton, C. J., Kato, M., Tsuji, S., Donehower, L. A., Slagle, B. L., Nakamura, H., et al. (2014) · Nature Genetics · doi:10.1038/ng.3126 · Cited by 781 · see citing works
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 · see citing works
Self-citationExome 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 770 · see citing works
Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients
Jiang, P., Chan, C. W. M., Chan, K. C. A., Cheng, S. H., Wong, J., Wong, V. W., Wong, G. L., Chan, S. L., Mok, T. S. K., Chan, H. L., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1500076112 · Cited by 742 · see citing works
Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor
Xu, X., Hou, Y., Yin, X., Bao, L., Tang, A., Song, L., Li, F., Tsang, S., Wu, K., Wu, H., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.025 · Cited by 667 · see citing works
A Compendium of Mutational Signatures of Environmental Agents
Kucab, J. E., Zou, X., Morganella, S., Joel, M., Nanda, A. S., Nagy, E., Gomez, C., Degasperi, A., Harris, R., Jackson, S. P., et al. (2019) · Cell · doi:10.1016/j.cell.2019.03.001 · Cited by 660 · see citing works
The Genetic Landscape of the Childhood Cancer Medulloblastoma
Parsons, D. W., Li, M., Zhang, X., Jones, S., Leary, R. J., Lin, J., Boca, S. M., Carter, H. K., Samayoa, J. A., Bettegowda, C., et al. (2010) · Science · doi:10.1126/science.1198056 · Cited by 708 · see citing works
Exploring the Genomes of Cancer Cells: Progress and Promise
Stratton, M. R. (2011) · Science · doi:10.1126/science.1204040 · Cited by 688 · see citing works
Self-citationChromatin organization is a major influence on regional mutation rates in human cancer cells
Schuster-Böckler, B., & Lehner, B. (2012) · Nature · doi:10.1038/nature11273 · Cited by 657 · see citing works
SomaticSniper: identification of somatic point mutations in whole genome sequencing data
Larson, D. E., Harris, C. C., Chen, K., Koboldt, D. C., Abbott, T. E., Dooling, D. J., Ley, T. J., Mardis, E. R., Wilson, R. K., & Ding, L. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr665 · Cited by 640 · see citing works
Evolution of the cancer genome
Yates, L. R., & Campbell, P. J. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3317 · Cited by 645 · see citing works
Self-citationSchadendorf, D., Fisher, D. E., Garbe, C., Gershenwald, J. E., Grob, J., Halpern, A. C., Herlyn, M., Marchetti, M. A., McArthur, G. A., Ribas, A., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.3 · Cited by 612 · see citing works
Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation
Fabbri, G., Rasi, S., Rossi, D., Trifonov, V. A., Khiabanian, H., Ma, J., Grunn, A., Fangazio, M., Capello, D., Monti, S. M., et al. (2011) · The Journal of Experimental Medicine · doi:10.1084/jem.20110921 · Cited by 606 · see citing works
Leiter, U., Eigentler, T., & Garbe, C. (2014) · Springer eBooks · doi:10.1007/978-1-4939-0437-2_7 · Cited by 611 · see citing works
Quake: quality-aware detection and correction of sequencing errors
Kelley, D. R., Schatz, M. C., & Salzberg, S. L. (2010) · Genome biology · doi:10.1186/gb-2010-11-11-r116 · Cited by 581 · see citing works
Kipps, T. J., Stevenson, F. K., Wu, C. J., Croce, C. M., Packham, G., Wierda, W. G., O'Brien, S. M., Gribben, J. G., & Rai, K. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.96 · Cited by 569 · see citing works
Cell-of-origin chromatin organization shapes the mutational landscape of cancer
Polak, P., Karlić, R., Koren, A., Thurman, R., Sandstrom, R., Lawrence, M. S., Reynolds, A., Rynes, E., Vlahoviček, K., Stamatoyannopoulos, J. A., et al. (2015) · Nature · doi:10.1038/nature14221 · Cited by 557 · see citing works
Shining a light on xeroderma pigmentosum
DiGiovanna, J. J., & Kraemer, K. H. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.426 · Cited by 547 · see citing works
Genome-wide analysis of noncoding regulatory mutations in cancer
Weinhold, N., Jacobsen, A., Schultz, N., Sander, C., & Lee, W. (2014) · Nature Genetics · doi:10.1038/ng.3101 · Cited by 484 · see citing works
The Molecular Pathology of Melanoma: An Integrated Taxonomy of Melanocytic Neoplasia
Bastian, B. C. (2014) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-012513-104658 · Cited by 515 · see citing works
Gene-engineered T cells for cancer therapy
Kershaw, M. H., Westwood, J. A., & Darcy, P. K. (2013) · Nature reviews. Cancer · doi:10.1038/nrc3565 · Cited by 504 · see citing works
RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues
Yizhak, K., Aguet, F., Kim, J., Hess, J. M., Kübler, K., Grimsby, J., Frazer, R., Zhang, H., Haradhvala, N. J., Rosebrock, D., et al. (2019) · Science · doi:10.1126/science.aaw0726 · Cited by 500 · see citing works
Variation in the mutation rate across mammalian genomes
Hodgkinson, A., & Eyre-Walker, A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3098 · Cited by 487 · see citing works
CREST maps somatic structural variation in cancer genomes with base-pair resolution
Wang, J., Mullighan, C. G., Easton, J. B., Roberts, S., Heatley, S. L., Ma, J., Rusch, M., Chen, K., Harris, C. C., Ding, L., et al. (2011) · Nature Methods · doi:10.1038/nmeth.1628 · Cited by 485 · see citing works
Melanoma: from mutations to medicine
Tsao, H., Chin, L., Garraway, L. A., & Fisher, D. E. (2012) · Genes & Development · doi:10.1101/gad.191999.112 · Cited by 496 · see citing works
Self-citationAn integrated approach to uncover drivers of cancer
Akavia, U. D., Litvin, O., Kim, J., Sanchez-Garcia, F., Kotliar, D., Causton, H. C., Pochanard, P., Mozes, E., Garraway, L. A., & Pe'er, D. (2010) · Cell · doi:10.1016/j.cell.2010.11.013 · Cited by 484 · see citing works
Emerging patterns of somatic mutations in cancer
Watson, I. R., Takahashi, K., Futreal, P. A., & Chin, L. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3539 · Cited by 481 · see citing works
Self-citationThe mutation spectrum revealed by paired genome sequences from a lung cancer patient
Lee, W., Jiang, Z., Liu, J., Haverty, P. M., Guan, Y., Stinson, J., Yue, P., Zhang, Y., Pant, K. P., Bhatt, D., et al. (2010) · Nature · doi:10.1038/nature09004 · Cited by 486 · see citing works
Mutational signatures: the patterns of somatic mutations hidden in cancer genomes
Alexandrov, L. B., & Stratton, M. R. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.11.014 · Cited by 488 · see citing works
Self-citationOrigins and functional consequences of somatic mitochondrial DNA mutations in human cancer
Ju, Y. S., Alexandrov, L. B., Gerstung, M., Martin, S., Nik‐Zainal, S., Ramakrishna, M., Davies, H. R., Papaemmanuil, E., Gundem, G., Shlien, A., et al. (2014) · eLife · doi:10.7554/elife.02935 · Cited by 481 · see citing works
Self-citationBRCA1 Recruitment to Transcriptional Pause Sites Is Required for R-Loop-Driven DNA Damage Repair
Hatchi, E., Skourti-Stathaki, K., Ventz, S., Pinello, L., Yen, A., Kamieniarz-Gdula, K., Dimitrov, S. D., Pathania, S., McKinney, K. M., Eaton, M. L., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.01.011 · Cited by 480 · see citing works
NF-κB addiction and its role in cancer: ‘one size does not fit all’
Chaturvedi, M., Sung, B., Yadav, V. R., Kannappan, R., & Aggarwal, B. B. (2010) · Oncogene · doi:10.1038/onc.2010.566 · Cited by 474 · see citing works
UV wavelength-dependent DNA damage and human non-melanoma and melanoma skin cancer
Pfeifer, G. P., & Besaratinia, A. (2012) · Photochemical & Photobiological Sciences · doi:10.1039/c1pp05144j · Cited by 473 · see citing works
Exome sequencing identifies GRIN2A as frequently mutated in melanoma
Program, N. C. S., Wei, X., Walia, V., Lin, J., Teer, J. K., Prickett, T. D., Gartner, J. J., Davis, S. R., Stemke‐Hale, K., Davies, M. A., et al. (2011) · Nature Genetics · doi:10.1038/ng.810 · Cited by 463 · see citing works
Quantitative evolutionary dynamics using high-resolution lineage tracking
Levy, S. F., Blundell, J. R., Venkataram, S., Petrov, D. A., Fisher, D. S., & Sherlock, G. J. (2015) · Nature · doi:10.1038/nature14279 · Cited by 461 · see citing works
Genetic heterogeneity and cancer drug resistance
Turner, N. C., & Reis-Filho, J. S. (2012) · The Lancet Oncology · doi:10.1016/s1470-2045(11)70335-7 · Cited by 451 · see citing works
Evaluating intrinsic and non-intrinsic cancer risk factors
Wu, S., Zhu, W., Thompson, P. A., & Hannun, Y. A. (2018) · Nature Communications · doi:10.1038/s41467-018-05467-z · Cited by 439 · see citing works
The melanoma revolution: From UV carcinogenesis to a new era in therapeutics
Lo, J. A., & Fisher, D. E. (2014) · Science · doi:10.1126/science.1253735 · Cited by 426 · see citing works
Cancer immunotherapy strategies based on overcoming barriers within the tumor microenvironment
Gajewski, T. F., Woo, S., Zha, Y., Spaapen, R. M., Zheng, Y., Corrales, L. P., & Spranger, S. (2013) · Current Opinion in Immunology · doi:10.1016/j.coi.2013.02.009 · Cited by 420 · see citing works
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 · see citing works
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma
Nikolaev, S. I., Rimoldi, D., Iseli, C., Valsesia, A., Robyr, D., Gehrig, C., Harshman, K., Guipponi, M., Bukach, O. V., Zoete, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.1026 · Cited by 410 · see citing works
Mutational Strand Asymmetries in Cancer Genomes Reveal Mechanisms of DNA Damage and Repair
Haradhvala, N. J., Polak, P. P., Stojanov, P., Covington, K. R., Shinbrot, E., Hess, J. M., Rheinbay, E., Kim, J., Maruvka, Y. E., Braunstein, L. Z., et al. (2016) · Cell · doi:10.1016/j.cell.2015.12.050 · Cited by 387 · see citing works
Weischenfeldt, J., Dubash, T., Drainas, A. P., Mardin, B. R., Chen, Y., Stütz, A. M., Waszak, S. M., Bosco, G., Halvorsen, A. R., Raeder, B., et al. (2017) · Nature Genetics · doi:10.1038/ng.3722 · Cited by 404 · see citing works
Hypermutation in human cancer genomes: footprints and mechanisms
Roberts, S. A., & Gordenin, D. A. (2014) · Nature reviews. Cancer · doi:10.1038/nrc3816 · Cited by 397 · see citing works
The spliceosome as a target of novel antitumour drugs
Bonnal, S., Vigevani, L., & Valcárcel, J. (2012) · Nature Reviews Drug Discovery · doi:10.1038/nrd3823 · Cited by 403 · see citing works
Unravelling the complexity of metastasis — molecular understanding and targeted therapies
Sethi, N. S., & Kang, Y. (2011) · Nature reviews. Cancer · doi:10.1038/nrc3125 · Cited by 396 · see citing works
Human cancers express mutator phenotypes: origin, consequences and targeting
Loeb, L. A. (2011) · Nature reviews. Cancer · doi:10.1038/nrc3063 · Cited by 394 · see citing works
- 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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