메뉴 건너뛰기




Volumn 31, Issue 8, 2015, Pages 465-474

Dissecting genetic and environmental mutation signatures with model organisms

Author keywords

Cancer genomics; Deep sequencing; Model organisms; Mutagens; Mutation signature

Indexed keywords

AFLATOXIN; CARCINOGEN; CISPLATIN; DNA; DNA POLYMERASE; MUTAGENIC AGENT; TOBACCO SMOKE;

EID: 84938292675     PISSN: 01689525     EISSN: 13624555     Source Type: Journal    
DOI: 10.1016/j.tig.2015.04.001     Document Type: Review
Times cited : (14)

References (104)
  • 1
    • 84891102589 scopus 로고    scopus 로고
    • Mutational signatures: the patterns of somatic mutations hidden in cancer genomes
    • Alexandrov L.B., Stratton M.R. Mutational signatures: the patterns of somatic mutations hidden in cancer genomes. Curr. Opin. Genet. Dev. 2014, 24:52-60.
    • (2014) Curr. Opin. Genet. Dev. , vol.24 , pp. 52-60
    • Alexandrov, L.B.1    Stratton, M.R.2
  • 2
    • 0025748539 scopus 로고
    • P53 mutation in hepatocellular carcinoma after aflatoxin exposure
    • Ozturk M. p53 mutation in hepatocellular carcinoma after aflatoxin exposure. Lancet 1991, 338:1356-1359.
    • (1991) Lancet , vol.338 , pp. 1356-1359
    • Ozturk, M.1
  • 3
    • 0025894713 scopus 로고
    • P53 mutations in human cancers
    • Hollstein M., et al. p53 mutations in human cancers. Science 1991, 253:49-53.
    • (1991) Science , vol.253 , pp. 49-53
    • Hollstein, M.1
  • 4
    • 0037152628 scopus 로고    scopus 로고
    • Tobacco smoke carcinogens, DNA damage and p53 mutations in smoking-associated cancers
    • Pfeifer G.P., et al. Tobacco smoke carcinogens, DNA damage and p53 mutations in smoking-associated cancers. Oncogene 2002, 21:7435-7451.
    • (2002) Oncogene , vol.21 , pp. 7435-7451
    • Pfeifer, G.P.1
  • 5
    • 74449093973 scopus 로고    scopus 로고
    • A comprehensive catalogue of somatic mutations from a human cancer genome
    • Pleasance E.D., et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 2010, 463:191-196.
    • (2010) Nature , vol.463 , pp. 191-196
    • Pleasance, E.D.1
  • 6
    • 74449085934 scopus 로고    scopus 로고
    • A small-cell lung cancer genome with complex signatures of tobacco exposure
    • Pleasance E.D., et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 2010, 463:184-190.
    • (2010) Nature , vol.463 , pp. 184-190
    • Pleasance, E.D.1
  • 7
    • 84886531465 scopus 로고    scopus 로고
    • Whole-genome sequencing analysis identifies a distinctive mutational spectrum in an arsenic-related lung tumor
    • Martinez V.D., et al. Whole-genome sequencing analysis identifies a distinctive mutational spectrum in an arsenic-related lung tumor. J. Thorac. Oncol. 2013, 8:1451-1455.
    • (2013) J. Thorac. Oncol. , vol.8 , pp. 1451-1455
    • Martinez, V.D.1
  • 8
    • 84882837534 scopus 로고    scopus 로고
    • Signatures of mutational processes in human cancer
    • Alexandrov L.B., et al. Signatures of mutational processes in human cancer. Nature 2013, 500:415-421.
    • (2013) Nature , vol.500 , pp. 415-421
    • Alexandrov, L.B.1
  • 9
    • 84873186179 scopus 로고    scopus 로고
    • Deciphering signatures of mutational processes operative in human cancer
    • Alexandrov L.B., et al. Deciphering signatures of mutational processes operative in human cancer. Cell Rep. 2013, 3:246-259.
    • (2013) Cell Rep. , vol.3 , pp. 246-259
    • Alexandrov, L.B.1
  • 10
    • 84878593111 scopus 로고    scopus 로고
    • Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity
    • Dulak A.M., et al. Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. Nat. Genet. 2013, 45:478-486.
    • (2013) Nat. Genet. , vol.45 , pp. 478-486
    • Dulak, A.M.1
  • 11
    • 84861541343 scopus 로고    scopus 로고
    • Mutational processes molding the genomes of 21 breast cancers
    • Nik-Zainal S., et al. Mutational processes molding the genomes of 21 breast cancers. Cell 2012, 149:979-993.
    • (2012) Cell , vol.149 , pp. 979-993
    • Nik-Zainal, S.1
  • 12
    • 84899533639 scopus 로고    scopus 로고
    • Mutation signatures of carcinogen exposure: genome-wide detection and new opportunities for cancer prevention
    • Poon S.L., et al. Mutation signatures of carcinogen exposure: genome-wide detection and new opportunities for cancer prevention. Genome Med. 2014, 6:24.
    • (2014) Genome Med. , vol.6 , pp. 24
    • Poon, S.L.1
  • 13
    • 84925497848 scopus 로고    scopus 로고
    • Hypermutation in human cancer genomes: footprints and mechanisms
    • Roberts S.A., Gordenin D.A. Hypermutation in human cancer genomes: footprints and mechanisms. Nat. Rev. Cancer 2014, 14:786-800.
    • (2014) Nat. Rev. Cancer , vol.14 , pp. 786-800
    • Roberts, S.A.1    Gordenin, D.A.2
  • 14
    • 84861460657 scopus 로고    scopus 로고
    • Clustered mutations in yeast and in human cancers can arise from damaged long single-strand DNA regions
    • Roberts S.A., et al. Clustered mutations in yeast and in human cancers can arise from damaged long single-strand DNA regions. Mol. Cell 2012, 46:424-435.
    • (2012) Mol. Cell , vol.46 , pp. 424-435
    • Roberts, S.A.1
  • 15
    • 84883432724 scopus 로고    scopus 로고
    • An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers
    • Roberts S.A., et al. An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers. Nat. Genet. 2013, 45:970-976.
    • (2013) Nat. Genet. , vol.45 , pp. 970-976
    • Roberts, S.A.1
  • 16
    • 84879061509 scopus 로고    scopus 로고
    • DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis
    • Taylor B.J., et al. DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis. Elife 2013, 2:e00534.
    • (2013) Elife , vol.2 , pp. e00534
    • Taylor, B.J.1
  • 17
    • 84874188583 scopus 로고    scopus 로고
    • APOBEC3B is an enzymatic source of mutation in breast cancer
    • Burns M.B., et al. APOBEC3B is an enzymatic source of mutation in breast cancer. Nature 2013, 494:366-370.
    • (2013) Nature , vol.494 , pp. 366-370
    • Burns, M.B.1
  • 18
    • 84871174239 scopus 로고    scopus 로고
    • AID/APOBEC cytosine deaminase induces genome-wide kataegis
    • Lada A.G., et al. AID/APOBEC cytosine deaminase induces genome-wide kataegis. Biol. Direct 2012, 7:47.
    • (2012) Biol. Direct , vol.7 , pp. 47
    • Lada, A.G.1
  • 19
    • 84899645475 scopus 로고    scopus 로고
    • Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer
    • Nik-Zainal S., et al. Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer. Nat. Genet. 2014, 46:487-491.
    • (2014) Nat. Genet. , vol.46 , pp. 487-491
    • Nik-Zainal, S.1
  • 20
    • 84906303775 scopus 로고    scopus 로고
    • Mechanisms underlying mutational signatures in human cancers
    • Helleday T., et al. Mechanisms underlying mutational signatures in human cancers. Nat. Rev. Genet. 2014, 15:585-598.
    • (2014) Nat. Rev. Genet. , vol.15 , pp. 585-598
    • Helleday, T.1
  • 21
    • 84907481031 scopus 로고    scopus 로고
    • C. elegans whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency
    • Meier B., et al. C. elegans whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency. Genome Res. 2014, 24:1624-1636.
    • (2014) Genome Res. , vol.24 , pp. 1624-1636
    • Meier, B.1
  • 22
    • 84919399353 scopus 로고    scopus 로고
    • Having a direct look: analysis of DNA damage and repair mechanisms by next generation sequencing
    • Meier B., Gartner A. Having a direct look: analysis of DNA damage and repair mechanisms by next generation sequencing. Exp. Cell Res. 2014, 329:35-41.
    • (2014) Exp. Cell Res. , vol.329 , pp. 35-41
    • Meier, B.1    Gartner, A.2
  • 23
    • 84901293540 scopus 로고    scopus 로고
    • Genome destabilizing mutator alleles drive specific mutational trajectories in Saccharomyces cerevisiae
    • Stirling P.C., et al. Genome destabilizing mutator alleles drive specific mutational trajectories in Saccharomyces cerevisiae. Genetics 2014, 196:403-412.
    • (2014) Genetics , vol.196 , pp. 403-412
    • Stirling, P.C.1
  • 24
    • 84893502065 scopus 로고    scopus 로고
    • Mutational landscape of yeast mutator strains
    • Serero A., et al. Mutational landscape of yeast mutator strains. Proc. Natl. Acad. Sci. U.S.A. 2014, 111:1897-1902.
    • (2014) Proc. Natl. Acad. Sci. U.S.A. , vol.111 , pp. 1897-1902
    • Serero, A.1
  • 25
    • 70349964711 scopus 로고    scopus 로고
    • Genomic mutation rates: what high-throughput methods can tell us
    • Nishant K.T., et al. Genomic mutation rates: what high-throughput methods can tell us. Bioessays 2009, 31:912-920.
    • (2009) Bioessays , vol.31 , pp. 912-920
    • Nishant, K.T.1
  • 26
    • 0033611501 scopus 로고    scopus 로고
    • High genomic deleterious mutation rates in hominids
    • Eyre-Walker A., Keightley P.D. High genomic deleterious mutation rates in hominids. Nature 1999, 397:344-347.
    • (1999) Nature , vol.397 , pp. 344-347
    • Eyre-Walker, A.1    Keightley, P.D.2
  • 27
    • 79959725029 scopus 로고    scopus 로고
    • Variation in genome-wide mutation rates within and between human families
    • Conrad D.F., et al. Variation in genome-wide mutation rates within and between human families. Nat. Genet. 2011, 43:712-714.
    • (2011) Nat. Genet. , vol.43 , pp. 712-714
    • Conrad, D.F.1
  • 28
    • 84868214089 scopus 로고    scopus 로고
    • Estimating the human mutation rate using autozygosity in a founder population
    • Campbell C.D., et al. Estimating the human mutation rate using autozygosity in a founder population. Nat. Genet. 2012, 44:1277-1281.
    • (2012) Nat. Genet. , vol.44 , pp. 1277-1281
    • Campbell, C.D.1
  • 29
    • 0002880568 scopus 로고
    • Genetic organization in Caenorhabditis elegans: fine-structure analysis of the unc-22 Gene
    • Moerman D.G., Baillie D.L. Genetic organization in Caenorhabditis elegans: fine-structure analysis of the unc-22 Gene. Genetics 1979, 91:95-103.
    • (1979) Genetics , vol.91 , pp. 95-103
    • Moerman, D.G.1    Baillie, D.L.2
  • 30
    • 0018656297 scopus 로고
    • Identifying environmental chemicals causing mutations and cancer
    • Ames B.N. Identifying environmental chemicals causing mutations and cancer. Science 1979, 204:587-593.
    • (1979) Science , vol.204 , pp. 587-593
    • Ames, B.N.1
  • 31
    • 79955602011 scopus 로고    scopus 로고
    • The complete spectrum of yeast chromosome instability genes identifies candidate CIN cancer genes and functional roles for ASTRA complex components
    • Stirling P.C., et al. The complete spectrum of yeast chromosome instability genes identifies candidate CIN cancer genes and functional roles for ASTRA complex components. PLoS Genet. 2011, 7:e1002057.
    • (2011) PLoS Genet. , vol.7 , pp. e1002057
    • Stirling, P.C.1
  • 32
    • 0141482059 scopus 로고    scopus 로고
    • A genomewide screen in Saccharomyces cerevisiae for genes that suppress the accumulation of mutations
    • Huang M.E., et al. A genomewide screen in Saccharomyces cerevisiae for genes that suppress the accumulation of mutations. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:11529-11534.
    • (2003) Proc. Natl. Acad. Sci. U.S.A. , vol.100 , pp. 11529-11534
    • Huang, M.E.1
  • 33
    • 34247200412 scopus 로고    scopus 로고
    • Systematic genome instability screens in yeast and their potential relevance to cancer
    • Yuen K.W., et al. Systematic genome instability screens in yeast and their potential relevance to cancer. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:3925-3930.
    • (2007) Proc. Natl. Acad. Sci. U.S.A. , vol.104 , pp. 3925-3930
    • Yuen, K.W.1
  • 34
    • 0027306173 scopus 로고
    • Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair
    • Strand M., et al. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 1993, 365:274-276.
    • (1993) Nature , vol.365 , pp. 274-276
    • Strand, M.1
  • 35
    • 0036699095 scopus 로고    scopus 로고
    • Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA
    • Cheung I., et al. Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA. Nat. Genet. 2002, 31:405-409.
    • (2002) Nat. Genet. , vol.31 , pp. 405-409
    • Cheung, I.1
  • 36
    • 45449102827 scopus 로고    scopus 로고
    • Mutagenic capacity of endogenous G4 DNA underlies genome instability in FANCJ-defective C. elegans
    • Kruisselbrink E., et al. Mutagenic capacity of endogenous G4 DNA underlies genome instability in FANCJ-defective C. elegans. Curr. Biol. 2008, 18:900-905.
    • (2008) Curr. Biol. , vol.18 , pp. 900-905
    • Kruisselbrink, E.1
  • 37
    • 53149127633 scopus 로고    scopus 로고
    • Spectrum of mutational events in the absence of DOG-1/FANCJ in Caenorhabditis elegans
    • Zhao Y., et al. Spectrum of mutational events in the absence of DOG-1/FANCJ in Caenorhabditis elegans. DNA Repair (Amst.) 2008, 7:1846-1854.
    • (2008) DNA Repair (Amst.) , vol.7 , pp. 1846-1854
    • Zhao, Y.1
  • 38
    • 40849138236 scopus 로고    scopus 로고
    • Estimating the per-base-pair mutation rate in the yeast Saccharomyces cerevisiae
    • Lang G.I., Murray A.W. Estimating the per-base-pair mutation rate in the yeast Saccharomyces cerevisiae. Genetics 2008, 178:67-82.
    • (2008) Genetics , vol.178 , pp. 67-82
    • Lang, G.I.1    Murray, A.W.2
  • 39
    • 57149102482 scopus 로고    scopus 로고
    • Silent but not static: accelerated base-pair substitution in silenced chromatin of budding yeasts
    • Teytelman L., et al. Silent but not static: accelerated base-pair substitution in silenced chromatin of budding yeasts. PLoS Genet. 2008, 4:e1000247.
    • (2008) PLoS Genet. , vol.4 , pp. e1000247
    • Teytelman, L.1
  • 40
    • 20844442964 scopus 로고    scopus 로고
    • Variation in efficiency of DNA mismatch repair at different sites in the yeast genome
    • Hawk J.D., et al. Variation in efficiency of DNA mismatch repair at different sites in the yeast genome. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:8639-8643.
    • (2005) Proc. Natl. Acad. Sci. U.S.A. , vol.102 , pp. 8639-8643
    • Hawk, J.D.1
  • 41
    • 0029065571 scopus 로고
    • Association of increased spontaneous mutation rates with high levels of transcription in yeast
    • Datta A., Jinks-Robertson S. Association of increased spontaneous mutation rates with high levels of transcription in yeast. Science 1995, 268:1616-1619.
    • (1995) Science , vol.268 , pp. 1616-1619
    • Datta, A.1    Jinks-Robertson, S.2
  • 42
    • 80052919408 scopus 로고    scopus 로고
    • Mutation rates across budding yeast chromosome VI are correlated with replication timing
    • Lang G.I., Murray A.W. Mutation rates across budding yeast chromosome VI are correlated with replication timing. Genome Biol. Evol. 2011, 3:799-811.
    • (2011) Genome Biol. Evol. , vol.3 , pp. 799-811
    • Lang, G.I.1    Murray, A.W.2
  • 43
    • 1642514804 scopus 로고    scopus 로고
    • Death and more: DNA damage response pathways in the nematode C. elegans
    • Stergiou L., Hengartner M.O. Death and more: DNA damage response pathways in the nematode C. elegans. Cell Death Differ. 2004, 11:21-28.
    • (2004) Cell Death Differ. , vol.11 , pp. 21-28
    • Stergiou, L.1    Hengartner, M.O.2
  • 44
    • 84867339877 scopus 로고    scopus 로고
    • Rate and molecular spectrum of spontaneous mutations in the bacterium Escherichia coli as determined by whole-genome sequencing
    • Lee H., et al. Rate and molecular spectrum of spontaneous mutations in the bacterium Escherichia coli as determined by whole-genome sequencing. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:E2774-E2783.
    • (2012) Proc. Natl. Acad. Sci. U.S.A. , vol.109 , pp. E2774-E2783
    • Lee, H.1
  • 45
    • 84864089075 scopus 로고    scopus 로고
    • Variation in base-substitution mutation in experimental and natural lineages of Caenorhabditis nematodes
    • Denver D.R., et al. Variation in base-substitution mutation in experimental and natural lineages of Caenorhabditis nematodes. Genome Biol. Evol. 2012, 4:513-522.
    • (2012) Genome Biol. Evol. , vol.4 , pp. 513-522
    • Denver, D.R.1
  • 46
    • 48249133274 scopus 로고    scopus 로고
    • A genome-wide view of the spectrum of spontaneous mutations in yeast
    • Lynch M., et al. A genome-wide view of the spectrum of spontaneous mutations in yeast. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:9272-9277.
    • (2008) Proc. Natl. Acad. Sci. U.S.A. , vol.105 , pp. 9272-9277
    • Lynch, M.1
  • 47
    • 84881056465 scopus 로고    scopus 로고
    • Rates and genomic consequences of spontaneous mutational events in Drosophila melanogaster
    • Schrider D.R., et al. Rates and genomic consequences of spontaneous mutational events in Drosophila melanogaster. Genetics 2013, 194:937-954.
    • (2013) Genetics , vol.194 , pp. 937-954
    • Schrider, D.R.1
  • 48
    • 78049433266 scopus 로고    scopus 로고
    • The baker's yeast diploid genome is remarkably stable in vegetative growth and meiosis
    • Nishant K.T., et al. The baker's yeast diploid genome is remarkably stable in vegetative growth and meiosis. PLoS Genet. 2010, 6:e1001109.
    • (2010) PLoS Genet. , vol.6 , pp. e1001109
    • Nishant, K.T.1
  • 49
    • 74849090833 scopus 로고    scopus 로고
    • The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana
    • Ossowski S., et al. The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana. Science 2010, 327:92-94.
    • (2010) Science , vol.327 , pp. 92-94
    • Ossowski, S.1
  • 50
    • 70349507538 scopus 로고    scopus 로고
    • A genome-wide view of Caenorhabditis elegans base-substitution mutation processes
    • Denver D.R., et al. A genome-wide view of Caenorhabditis elegans base-substitution mutation processes. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:16310-16314.
    • (2009) Proc. Natl. Acad. Sci. U.S.A. , vol.106 , pp. 16310-16314
    • Denver, D.R.1
  • 51
    • 67650064592 scopus 로고    scopus 로고
    • Analysis of the genome sequences of three Drosophila melanogaster spontaneous mutation accumulation lines
    • Keightley P.D., et al. Analysis of the genome sequences of three Drosophila melanogaster spontaneous mutation accumulation lines. Genome Res. 2009, 19:1195-1201.
    • (2009) Genome Res. , vol.19 , pp. 1195-1201
    • Keightley, P.D.1
  • 52
    • 84867301449 scopus 로고    scopus 로고
    • Whole genome sequencing of mutation accumulation lines reveals a low mutation rate in the social amoeba Dictyostelium discoideum
    • Saxer G., et al. Whole genome sequencing of mutation accumulation lines reveals a low mutation rate in the social amoeba Dictyostelium discoideum. PLoS ONE 2012, 7:e46759.
    • (2012) PLoS ONE , vol.7 , pp. e46759
    • Saxer, G.1
  • 53
    • 84901824457 scopus 로고    scopus 로고
    • Precise estimates of mutation rate and spectrum in yeast
    • Zhu Y.O., et al. Precise estimates of mutation rate and spectrum in yeast. Proc. Natl. Acad. Sci. U.S.A. 2014, 111:E2310-E2318.
    • (2014) Proc. Natl. Acad. Sci. U.S.A. , vol.111 , pp. E2310-E2318
    • Zhu, Y.O.1
  • 54
    • 84883132678 scopus 로고    scopus 로고
    • Pervasive genetic hitchhiking and clonal interference in forty evolving yeast populations
    • Lang G.I., et al. Pervasive genetic hitchhiking and clonal interference in forty evolving yeast populations. Nature 2013, 500:571-574.
    • (2013) Nature , vol.500 , pp. 571-574
    • Lang, G.I.1
  • 55
    • 84861168500 scopus 로고    scopus 로고
    • Mutation hot spots in yeast caused by long-range clustering of homopolymeric sequences
    • Ma X., et al. Mutation hot spots in yeast caused by long-range clustering of homopolymeric sequences. Cell Rep. 2012, 1:36-42.
    • (2012) Cell Rep. , vol.1 , pp. 36-42
    • Ma, X.1
  • 56
    • 78951483949 scopus 로고    scopus 로고
    • Detection of heterozygous mutations in the genome of mismatch repair defective diploid yeast using a Bayesian approach
    • Zanders S., et al. Detection of heterozygous mutations in the genome of mismatch repair defective diploid yeast using a Bayesian approach. Genetics 2010, 186:493-503.
    • (2010) Genetics , vol.186 , pp. 493-503
    • Zanders, S.1
  • 57
    • 84896523433 scopus 로고    scopus 로고
    • Mutation rates, spectra, and genome-wide distribution of spontaneous mutations in mismatch repair deficient yeast
    • Lang G.I., et al. Mutation rates, spectra, and genome-wide distribution of spontaneous mutations in mismatch repair deficient yeast. G3 2013, 3:1453-1465.
    • (2013) G3 , vol.3 , pp. 1453-1465
    • Lang, G.I.1
  • 58
    • 84883214477 scopus 로고    scopus 로고
    • On the mutational topology of the bacterial genome
    • Foster P.L., et al. On the mutational topology of the bacterial genome. G3 2013, 3:399-407.
    • (2013) G3 , vol.3 , pp. 399-407
    • Foster, P.L.1
  • 59
    • 84923948943 scopus 로고    scopus 로고
    • Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition
    • Lujan S.A., et al. Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition. Genome Res. 2014, 24:1751-1764.
    • (2014) Genome Res. , vol.24 , pp. 1751-1764
    • Lujan, S.A.1
  • 60
    • 76549111046 scopus 로고    scopus 로고
    • Defective mismatch repair, microsatellite mutation bias, and variability in clinical cancer phenotypes
    • Shah S.N., et al. Defective mismatch repair, microsatellite mutation bias, and variability in clinical cancer phenotypes. Cancer Res. 2010, 70:431-435.
    • (2010) Cancer Res. , vol.70 , pp. 431-435
    • Shah, S.N.1
  • 61
    • 77956271440 scopus 로고    scopus 로고
    • The ATM-p53 pathway suppresses aneuploidy-induced tumorigenesis
    • Li M., et al. The ATM-p53 pathway suppresses aneuploidy-induced tumorigenesis. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:14188-14193.
    • (2010) Proc. Natl. Acad. Sci. U.S.A. , vol.107 , pp. 14188-14193
    • Li, M.1
  • 62
    • 84875894854 scopus 로고    scopus 로고
    • The role of telomere biology in cancer
    • Xu L., et al. The role of telomere biology in cancer. Annu. Rev. Pathol. 2013, 8:49-78.
    • (2013) Annu. Rev. Pathol. , vol.8 , pp. 49-78
    • Xu, L.1
  • 63
    • 84897528140 scopus 로고    scopus 로고
    • Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia
    • Li Y., et al. Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia. Nature 2014, 508:98-102.
    • (2014) Nature , vol.508 , pp. 98-102
    • Li, Y.1
  • 64
    • 78049270970 scopus 로고    scopus 로고
    • Genome-wide model for the normal eukaryotic DNA replication fork
    • Larrea A.A., et al. Genome-wide model for the normal eukaryotic DNA replication fork. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:17674-17679.
    • (2010) Proc. Natl. Acad. Sci. U.S.A. , vol.107 , pp. 17674-17679
    • Larrea, A.A.1
  • 65
    • 84924180985 scopus 로고    scopus 로고
    • Tracking replication enzymology in vivo by genome-wide mapping of ribonucleotide incorporation
    • Clausen A.R., et al. Tracking replication enzymology in vivo by genome-wide mapping of ribonucleotide incorporation. Nat. Struct. Mol. Biol. 2015, 22:185-191.
    • (2015) Nat. Struct. Mol. Biol. , vol.22 , pp. 185-191
    • Clausen, A.R.1
  • 66
    • 84923844518 scopus 로고    scopus 로고
    • Ribose-seq: global mapping of ribonucleotides embedded in genomic DNA
    • Koh K.D., et al. Ribose-seq: global mapping of ribonucleotides embedded in genomic DNA. Nat. Methods 2015, 12:251-257.
    • (2015) Nat. Methods , vol.12 , pp. 251-257
    • Koh, K.D.1
  • 67
    • 84924072858 scopus 로고    scopus 로고
    • Lagging-strand replication shapes the mutational landscape of the genome
    • Reijns M.A., et al. Lagging-strand replication shapes the mutational landscape of the genome. Nature 2015, 518:502-506.
    • (2015) Nature , vol.518 , pp. 502-506
    • Reijns, M.A.1
  • 68
    • 84923989372 scopus 로고    scopus 로고
    • Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
    • Shlien A., et al. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nat. Genet. 2015, 47:257-262.
    • (2015) Nat. Genet. , vol.47 , pp. 257-262
    • Shlien, A.1
  • 69
    • 84873390533 scopus 로고    scopus 로고
    • Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability
    • Drier Y., et al. Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability. Genome Res. 2013, 23:228-235.
    • (2013) Genome Res. , vol.23 , pp. 228-235
    • Drier, Y.1
  • 70
    • 84884686754 scopus 로고    scopus 로고
    • Genome-wide mutation avalanches induced in diploid yeast cells by a base analog or an APOBEC deaminase
    • Lada A.G., et al. Genome-wide mutation avalanches induced in diploid yeast cells by a base analog or an APOBEC deaminase. PLoS Genet. 2013, 9:e1003736.
    • (2013) PLoS Genet. , vol.9 , pp. e1003736
    • Lada, A.G.1
  • 71
    • 46249091062 scopus 로고    scopus 로고
    • Mph1p promotes gross chromosomal rearrangement through partial inhibition of homologous recombination
    • Banerjee S., et al. Mph1p promotes gross chromosomal rearrangement through partial inhibition of homologous recombination. J. Cell Biol. 2008, 181:1083-1093.
    • (2008) J. Cell Biol. , vol.181 , pp. 1083-1093
    • Banerjee, S.1
  • 72
    • 0032915375 scopus 로고    scopus 로고
    • Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations
    • Shcherbakova P.V., Kunkel T.A. Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations. Mol. Cell Biol. 1999, 19:3177-3183.
    • (1999) Mol. Cell Biol. , vol.19 , pp. 3177-3183
    • Shcherbakova, P.V.1    Kunkel, T.A.2
  • 73
    • 63449093534 scopus 로고    scopus 로고
    • The alcohol flushing response: an unrecognized risk factor for esophageal cancer from alcohol consumption
    • Brooks P.J., et al. The alcohol flushing response: an unrecognized risk factor for esophageal cancer from alcohol consumption. PLoS Med. 2009, 6:e50.
    • (2009) PLoS Med. , vol.6 , pp. e50
    • Brooks, P.J.1
  • 74
    • 14644438645 scopus 로고    scopus 로고
    • Mutations induced by ultraviolet light
    • Pfeifer G.P., et al. Mutations induced by ultraviolet light. Mutat. Res. 2005, 571:19-31.
    • (2005) Mutat. Res. , vol.571 , pp. 19-31
    • Pfeifer, G.P.1
  • 75
    • 84867288246 scopus 로고    scopus 로고
    • A high-throughput next-generation sequencing-based method for detecting the mutational fingerprint of carcinogens
    • Besaratinia A., et al. A high-throughput next-generation sequencing-based method for detecting the mutational fingerprint of carcinogens. Nucleic Acids Res. 2012, 40:e116.
    • (2012) Nucleic Acids Res. , vol.40 , pp. e116
    • Besaratinia, A.1
  • 76
    • 84883894030 scopus 로고    scopus 로고
    • Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing
    • 197ra102
    • Hoang M.L., et al. Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing. Sci. Transl. Med. 2013, 5:197ra102.
    • (2013) Sci. Transl. Med. , vol.5
    • Hoang, M.L.1
  • 77
    • 84883872416 scopus 로고    scopus 로고
    • Genome-wide mutational signatures of aristolochic acid and its application as a screening tool
    • 197ra101
    • Poon S.L., et al. Genome-wide mutational signatures of aristolochic acid and its application as a screening tool. Sci. Transl. Med. 2013, 5:197ra101.
    • (2013) Sci. Transl. Med. , vol.5
    • Poon, S.L.1
  • 78
  • 79
    • 77955499817 scopus 로고    scopus 로고
    • Whole-genome profiling of mutagenesis in Caenorhabditis elegans
    • Flibotte S., et al. Whole-genome profiling of mutagenesis in Caenorhabditis elegans. Genetics 2010, 185:431-441.
    • (2010) Genetics , vol.185 , pp. 431-441
    • Flibotte, S.1
  • 80
    • 77955486655 scopus 로고    scopus 로고
    • Analysis of multiple ethyl methanesulfonate-mutagenized Caenorhabditis elegans strains by whole-genome sequencing
    • Sarin S., et al. Analysis of multiple ethyl methanesulfonate-mutagenized Caenorhabditis elegans strains by whole-genome sequencing. Genetics 2010, 185:417-430.
    • (2010) Genetics , vol.185 , pp. 417-430
    • Sarin, S.1
  • 81
    • 84884266257 scopus 로고    scopus 로고
    • The million mutation project: a new approach to genetics in Caenorhabditis elegans
    • Thompson O., et al. The million mutation project: a new approach to genetics in Caenorhabditis elegans. Genome Res. 2013, 23:1749-1762.
    • (2013) Genome Res. , vol.23 , pp. 1749-1762
    • Thompson, O.1
  • 82
    • 77649284459 scopus 로고    scopus 로고
    • Genomic sequence of a mutant strain of Caenorhabditis elegans with an altered recombination pattern
    • Rose A.M., et al. Genomic sequence of a mutant strain of Caenorhabditis elegans with an altered recombination pattern. BMC Genomics 2010, 11:131.
    • (2010) BMC Genomics , vol.11 , pp. 131
    • Rose, A.M.1
  • 83
    • 79953652263 scopus 로고    scopus 로고
    • Damage-induced localized hypermutability
    • Burch L.H., et al. Damage-induced localized hypermutability. Cell Cycle 2011, 10:1073-1085.
    • (2011) Cell Cycle , vol.10 , pp. 1073-1085
    • Burch, L.H.1
  • 84
    • 84872008477 scopus 로고    scopus 로고
    • Base damage within single-strand DNA underlies in vivo hypermutability induced by a ubiquitous environmental agent
    • Chan K., et al. Base damage within single-strand DNA underlies in vivo hypermutability induced by a ubiquitous environmental agent. PLoS Genet. 2012, 8:e1003149.
    • (2012) PLoS Genet. , vol.8 , pp. e1003149
    • Chan, K.1
  • 85
    • 84916939421 scopus 로고    scopus 로고
    • Characterization of the mutagenic spectrum of 4-nitroquinoline 1-oxide (4-NQO) in Aspergillus nidulans by whole genome sequencing
    • Downes D.J., et al. Characterization of the mutagenic spectrum of 4-nitroquinoline 1-oxide (4-NQO) in Aspergillus nidulans by whole genome sequencing. G3 2014, 4:2483-2492.
    • (2014) G3 , vol.4 , pp. 2483-2492
    • Downes, D.J.1
  • 86
    • 15744397978 scopus 로고    scopus 로고
    • Whither model organism research?
    • Fields S., Johnston M. Whither model organism research?. Science 2005, 307:1885-1886.
    • (2005) Science , vol.307 , pp. 1885-1886
    • Fields, S.1    Johnston, M.2
  • 87
    • 84870709677 scopus 로고    scopus 로고
    • Estimate of the spontaneous mutation rate in Chlamydomonas reinhardtii
    • Ness R.W., et al. Estimate of the spontaneous mutation rate in Chlamydomonas reinhardtii. Genetics 2012, 192:1447-1454.
    • (2012) Genetics , vol.192 , pp. 1447-1454
    • Ness, R.W.1
  • 88
    • 84868599895 scopus 로고    scopus 로고
    • Drift-barrier hypothesis and mutation-rate evolution
    • Sung W., et al. Drift-barrier hypothesis and mutation-rate evolution. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:18488-18492.
    • (2012) Proc. Natl. Acad. Sci. U.S.A. , vol.109 , pp. 18488-18492
    • Sung, W.1
  • 89
    • 84868579284 scopus 로고    scopus 로고
    • Extraordinary genome stability in the ciliate Paramecium tetraurelia
    • Sung W., et al. Extraordinary genome stability in the ciliate Paramecium tetraurelia. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:19339-19344.
    • (2012) Proc. Natl. Acad. Sci. U.S.A. , vol.109 , pp. 19339-19344
    • Sung, W.1
  • 90
    • 84922298785 scopus 로고    scopus 로고
    • Active RNAP pre-initiation sites are highly mutated by cytidine deaminases in yeast, with AID targeting small RNA genes
    • Taylor B.J., et al. Active RNAP pre-initiation sites are highly mutated by cytidine deaminases in yeast, with AID targeting small RNA genes. Elife 2014, 3:e03553.
    • (2014) Elife , vol.3 , pp. e03553
    • Taylor, B.J.1
  • 91
    • 84900868097 scopus 로고    scopus 로고
    • Whole genome profiling of spontaneous and chemically induced mutations in Toxoplasma gondii
    • Farrell A., et al. Whole genome profiling of spontaneous and chemically induced mutations in Toxoplasma gondii. BMC Genomics 2014, 15:354.
    • (2014) BMC Genomics , vol.15 , pp. 354
    • Farrell, A.1
  • 92
    • 84928236984 scopus 로고    scopus 로고
    • Mutation rate, spectrum, topology, and context-dependency in the DNA mismatch repair-deficient pseudomonas fluorescens ATCC948
    • Long H., et al. Mutation rate, spectrum, topology, and context-dependency in the DNA mismatch repair-deficient pseudomonas fluorescens ATCC948. Genome Biol. Evol. 2014, 7:262-271.
    • (2014) Genome Biol. Evol. , vol.7 , pp. 262-271
    • Long, H.1
  • 93
    • 84877747678 scopus 로고    scopus 로고
    • DNA polymerase epsilon and delta exonuclease domain mutations in endometrial cancer
    • Church D.N., et al. DNA polymerase epsilon and delta exonuclease domain mutations in endometrial cancer. Hum. Mol. Genet. 2013, 22:2820-2828.
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 2820-2828
    • Church, D.N.1
  • 94
    • 84873096362 scopus 로고    scopus 로고
    • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    • Palles C., et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat. Genet. 2013, 45:136-144.
    • (2013) Nat. Genet. , vol.45 , pp. 136-144
    • Palles, C.1
  • 95
    • 78049380554 scopus 로고    scopus 로고
    • The patterns and dynamics of genomic instability in metastatic pancreatic cancer
    • Campbell P.J., et al. The patterns and dynamics of genomic instability in metastatic pancreatic cancer. Nature 2010, 467:1109-1113.
    • (2010) Nature , vol.467 , pp. 1109-1113
    • Campbell, P.J.1
  • 96
    • 34047210411 scopus 로고    scopus 로고
    • TP53 mutations and hepatocellular carcinoma: insights into the etiology and pathogenesis of liver cancer
    • Hussain S.P., et al. TP53 mutations and hepatocellular carcinoma: insights into the etiology and pathogenesis of liver cancer. Oncogene 2007, 26:2166-2176.
    • (2007) Oncogene , vol.26 , pp. 2166-2176
    • Hussain, S.P.1
  • 97
    • 69249129569 scopus 로고    scopus 로고
    • In vitro recapitulating of TP53 mutagenesis in hepatocellular carcinoma associated with dietary aflatoxin B1 exposure
    • Besaratinia A., et al. In vitro recapitulating of TP53 mutagenesis in hepatocellular carcinoma associated with dietary aflatoxin B1 exposure. Gastroenterology 2009, 137:1127-1137.
    • (2009) Gastroenterology , vol.137 , pp. 1127-1137
    • Besaratinia, A.1
  • 98
    • 21744452376 scopus 로고    scopus 로고
    • Cancer in xeroderma pigmentosum and related disorders of DNA repair
    • Cleaver J.E. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat. Rev. Cancer 2005, 5:564-573.
    • (2005) Nat. Rev. Cancer , vol.5 , pp. 564-573
    • Cleaver, J.E.1
  • 99
    • 84856801304 scopus 로고    scopus 로고
    • A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1
    • Chisholm K.M., et al. A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1. PLoS ONE 2012, 7:e30748.
    • (2012) PLoS ONE , vol.7 , pp. e30748
    • Chisholm, K.M.1
  • 100
    • 84938288672 scopus 로고    scopus 로고
    • The FEN1 E359K germline mutation disrupts the FEN1-WRN interaction and FEN1 GEN activity, causing aneuploidy-associated cancers
    • Chung L., et al. The FEN1 E359K germline mutation disrupts the FEN1-WRN interaction and FEN1 GEN activity, causing aneuploidy-associated cancers. Oncogene 2015, 34:902-911.
    • (2015) Oncogene , vol.34 , pp. 902-911
    • Chung, L.1
  • 101
    • 84901686903 scopus 로고    scopus 로고
    • Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
    • Zhang B., et al. Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. Nat. Genet. 2014, 46:533-542.
    • (2014) Nat. Genet. , vol.46 , pp. 533-542
    • Zhang, B.1
  • 102
    • 84905382541 scopus 로고    scopus 로고
    • Modelling mutational landscapes of human cancers in vitro
    • Olivier M., et al. Modelling mutational landscapes of human cancers in vitro. Sci. Rep. 2014, 4:4482.
    • (2014) Sci. Rep. , vol.4 , pp. 4482
    • Olivier, M.1
  • 103
    • 84925536961 scopus 로고    scopus 로고
    • The mutational landscapes of genetic and chemical models of Kras-driven lung cancer
    • Westcott P.M., et al. The mutational landscapes of genetic and chemical models of Kras-driven lung cancer. Nature 2015, 517:489-492.
    • (2015) Nature , vol.517 , pp. 489-492
    • Westcott, P.M.1
  • 104
    • 84912046893 scopus 로고    scopus 로고
    • Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells
    • Severson P.L., et al. Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells. Mut. Res. 2014, 775-776:48-54.
    • (2014) Mut. Res. , pp. 48-54
    • Severson, P.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.