메뉴 건너뛰기




Volumn 3, Issue August2014, 2014, Pages 1-26

Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84924349028     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.02725     Document Type: Article
Times cited : (72)

References (68)
  • 1
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 1000 Genomes Project Consortium. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491:56-65. doi: 10.1038/nature11632.
    • (2012) Nature , vol.491 , pp. 56-65
    • 1000 Genomes Project Consortium1
  • 3
    • 0032534069 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
    • Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S. 1998. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Research 58:5248-5257.
    • (1998) Cancer Research , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3    Sidransky, D.4    Eshleman, J.R.5    Burt, R.W.6    Meltzer, S.J.7    Rodriguez-Bigas, M.A.8    Fodde, R.9    Ranzani, G.N.10    Srivastava, S.11
  • 7
    • 84899889433 scopus 로고    scopus 로고
    • Repair of naturally occurring mismatches can induce mutations in flanking DNA
    • Chen J, Miller BF, Furano AV. 2014. Repair of naturally occurring mismatches can induce mutations in flanking DNA. eLife 3:e02001. doi: 10.7554/eLife.02001.
    • (2014) eLife , vol.3
    • Chen, J.1    Miller, B.F.2    Furano, A.V.3
  • 8
    • 1642535480 scopus 로고    scopus 로고
    • BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer
    • Deng G, Bell I, Crawley S, Gum J, Terdiman JP, Allen BA, Truta B, Sleisenger MH, Kim YS. 2004. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clinical Cancer Research 10:191-195. doi: 10.1158/1078-0432.CCR-1118-3.
    • (2004) Clinical Cancer Research , vol.10 , pp. 191-195
    • Deng, G.1    Bell, I.2    Crawley, S.3    Gum, J.4    Terdiman, J.P.5    Allen, B.A.6    Truta, B.7    Sleisenger, M.H.8    Kim, Y.S.9
  • 9
    • 20444362414 scopus 로고    scopus 로고
    • Mutation rates, spectra and hotspots in mismatch repair-deficient Caenorhabditis elegans
    • Denver DR, Feinberg S, Estes S, Thomas WK, Lynch M. 2005. Mutation rates, spectra and hotspots in mismatch repair-deficient Caenorhabditis elegans. Genetics 170:107-113. doi: 10.1534/genetics.104.038521.
    • (2005) Genetics , vol.170 , pp. 107-113
    • Denver, D.R.1    Feinberg, S.2    Estes, S.3    Thomas, W.K.4    Lynch, M.5
  • 10
    • 0030778613 scopus 로고    scopus 로고
    • Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression
    • Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R, Rüschoff J. 1997. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Research 57:4749-4756.
    • (1997) Cancer Research , vol.57 , pp. 4749-4756
    • Dietmaier, W.1    Wallinger, S.2    Bocker, T.3    Kullmann, F.4    Fishel, R.5    Rüschoff, J.6
  • 14
    • 3042782819 scopus 로고    scopus 로고
    • Microsatellites: Simple sequences with complex evolution
    • Ellegren H. 2004. Microsatellites: simple sequences with complex evolution. Nature Reviews Genetics 5:435-445. doi: 10.1038/nrg1348.
    • (2004) Nature Reviews Genetics , vol.5 , pp. 435-445
    • Ellegren, H.1
  • 16
    • 36549061567 scopus 로고    scopus 로고
    • 5-Fluorouracil is efficiently removed from DNA by the base excision and mismatch repair systems
    • Fischer F, Baerenfaller K, Jiricny J. 2007. 5-Fluorouracil is efficiently removed from DNA by the base excision and mismatch repair systems. Gastroenterology 133:1858-1868. doi: 10.1053/j.gastro.2007.09.003.
    • (2007) Gastroenterology , vol.133 , pp. 1858-1868
    • Fischer, F.1    Baerenfaller, K.2    Jiricny, J.3
  • 17
    • 33646009986 scopus 로고    scopus 로고
    • Impairment of double-strand breaks repair and aberrant splicing of ATM and MRE11 in leukemia-lymphoma cell lines with microsatellite instability
    • Ham MF, Takakuwa T, Luo WJ, Liu A, Horii A, Aozasa K. 2006. Impairment of double-strand breaks repair and aberrant splicing of ATM and MRE11 in leukemia-lymphoma cell lines with microsatellite instability. Cancer Science 97:226-234. doi: 10.1111/j.1349-7006.2006.00165.x.
    • (2006) Cancer Science , vol.97 , pp. 226-234
    • Ham, M.F.1    Takakuwa, T.2    Luo, W.J.3    Liu, A.4    Horii, A.5    Aozasa, K.6
  • 23
    • 80054760378 scopus 로고    scopus 로고
    • Variation in the mutation rate across mammalian genomes
    • Hodgkinson A, Eyre-Walker A. 2011. Variation in the mutation rate across mammalian genomes. Nature Reviews Genetics 12:756-766. doi: 10.1038/nrg3098.
    • (2011) Nature Reviews Genetics , vol.12 , pp. 756-766
    • Hodgkinson, A.1    Eyre-Walker, A.2
  • 24
    • 81855189485 scopus 로고    scopus 로고
    • Visualization of eukaryotic DNA mismatch repair reveals distinct recognition and repair intermediates
    • Hombauer H, Campbell CS, Smith CE, Desai A, Kolodner RD. 2011. Visualization of eukaryotic DNA mismatch repair reveals distinct recognition and repair intermediates. Cell 147:1040-1053. doi: 10.1016/j.cell.2011.10.025.
    • (2011) Cell , vol.147 , pp. 1040-1053
    • Hombauer, H.1    Campbell, C.S.2    Smith, C.E.3    Desai, A.4    Kolodner, R.D.5
  • 25
    • 33646187811 scopus 로고    scopus 로고
    • The multifaceted mismatch-repair system
    • Jiricny J. 2006. The multifaceted mismatch-repair system. Nature Reviews Molecular Cell Biology 7:335-346. doi: 10.1038/nrm1907.
    • (2006) Nature Reviews Molecular Cell Biology , vol.7 , pp. 335-346
    • Jiricny, J.1
  • 27
    • 84887924524 scopus 로고    scopus 로고
    • The landscape of microsatellite instability in colorectal and endometrial cancer genomes
    • Kim TM, Laird PW, Park PJ. 2013. The landscape of microsatellite instability in colorectal and endometrial cancer genomes. Cell 155:858-868. doi: 10.1016/j.cell.2013.10.015.
    • (2013) Cell , vol.155 , pp. 858-868
    • Kim, T.M.1    Laird, P.W.2    Park, P.J.3
  • 31
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. 2010. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26:589-595. doi: 10.1093/bioinformatics/btp698.
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 33
    • 79952220731 scopus 로고    scopus 로고
    • Parallel high-throughput RNA interference screens identify PINK1 as a potential therapeutic target for the treatment of DNA mismatch repair-deficient cancers
    • Martin SA, Hewish M, Sims D, Lord CJ, Ashworth A. 2011. Parallel high-throughput RNA interference screens identify PINK1 as a potential therapeutic target for the treatment of DNA mismatch repair-deficient cancers. Cancer Research 71:1836-1848. doi: 10.1158/0008-5472.CAN-10-2836.
    • (2011) Cancer Research , vol.71 , pp. 1836-1848
    • Martin, S.A.1    Hewish, M.2    Sims, D.3    Lord, C.J.4    Ashworth, A.5
  • 37
    • 35148887112 scopus 로고    scopus 로고
    • Frequent alteration of DNA damage signalling and repair pathways in human colorectal cancers with microsatellite instability
    • Miquel C, Jacob S, Grandjouan S, Aimé A, Viguier J, Sabourin JC, Sarasin A, Duval A, Praz F. 2007. Frequent alteration of DNA damage signalling and repair pathways in human colorectal cancers with microsatellite instability. Oncogene 26:5919-5926. doi: 10.1038/sj.onc.1210419.
    • (2007) Oncogene , vol.26 , pp. 5919-5926
    • Miquel, C.1    Jacob, S.2    Grandjouan, S.3    Aimé, A.4    Viguier, J.5    Sabourin, J.C.6    Sarasin, A.7    Duval, A.8    Praz, F.9
  • 40
    • 77954710907 scopus 로고    scopus 로고
    • Microsatellite instability and adjuvant fluorouracil chemotherapy: A mismatch?
    • Ng K, Schrag D. 2010. Microsatellite instability and adjuvant fluorouracil chemotherapy: a mismatch? Journal of Clinical Oncology 28:3207-3210. doi: 10.1200/JCO.2010.28.9314.
    • (2010) Journal of Clinical Oncology , vol.28 , pp. 3207-3210
    • Ng, K.1    Schrag, D.2
  • 43
    • 84878420550 scopus 로고    scopus 로고
    • MSH3 mismatch repair protein regulates sensitivity to cytotoxic drugs and a histone deacetylase inhibitor in human colon carcinoma cells
    • Park JM, Huang S, Tougeron D, Sinicrope FA. 2013. MSH3 mismatch repair protein regulates sensitivity to cytotoxic drugs and a histone deacetylase inhibitor in human colon carcinoma cells. PLOS ONE 8:e65369. doi: 10.1371/journal.pone.0065369.
    • (2013) PLOS ONE , vol.8
    • Park, J.M.1    Huang, S.2    Tougeron, D.3    Sinicrope, F.A.4
  • 44
    • 84860314426 scopus 로고    scopus 로고
    • Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: A literature review assessing utility of tumour features for MMR variant classification
    • Parsons MT, Buchanan DD, Thompson B, Young JP, Spurdle AB. 2012. Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. Journal of Medical Genetics 49:151-157. doi: 10.1136/jmedgenet-2011-100714.
    • (2012) Journal of Medical Genetics , vol.49 , pp. 151-157
    • Parsons, M.T.1    Buchanan, D.D.2    Thompson, B.3    Young, J.P.4    Spurdle, A.B.5
  • 45
    • 84897400369 scopus 로고    scopus 로고
    • Epigenetic mechanisms in the pathogenesis of Lynch syndrome
    • Peltomaki P. 2014. Epigenetic mechanisms in the pathogenesis of Lynch syndrome. Clinical Genetics 85:403-412. doi: 10.1111/cge.12349.
    • (2014) Clinical Genetics , vol.85 , pp. 403-412
    • Peltomaki, P.1
  • 50
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: A flexible suite of utilities for comparing genomic features
    • Quinlan AR, Hall IM. 2010. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26:841-842. doi: 10.1093/bioinformatics/btq033.
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 52
    • 73349114941 scopus 로고    scopus 로고
    • KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan: Results from the MRC FOCUS trial
    • Richman SD, Seymour MT, Chambers P, Elliott F, Daly CL, Meade AM, Taylor G, Barrett JH, Quirke P. 2009. KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan: results from the MRC FOCUS trial. Journal of Clinical Oncology 27:5931-5937. doi: 10.1200/JCO.2009.22.4295.
    • (2009) Journal of Clinical Oncology , vol.27 , pp. 5931-5937
    • Richman, S.D.1    Seymour, M.T.2    Chambers, P.3    Elliott, F.4    Daly, C.L.5    Meade, A.M.6    Taylor, G.7    Barrett, J.H.8    Quirke, P.9
  • 53
    • 33644857994 scopus 로고    scopus 로고
    • Environmental tuning of mutation rates
    • Saint-Ruf C, Matic I. 2006. Environmental tuning of mutation rates. Environmental Microbiology 8:193-199. doi: 10.1111/j.1462-2920.2005.00968.x.
    • (2006) Environmental Microbiology , vol.8 , pp. 193-199
    • Saint-Ruf, C.1    Matic, I.2
  • 54
    • 34248579736 scopus 로고    scopus 로고
    • The N terminus of Saccharomyces cerevisiae Msh6 is an unstructured tether to PCNA
    • Shell SS, Putnam CD, Kolodner RD. 2007. The N terminus of Saccharomyces cerevisiae Msh6 is an unstructured tether to PCNA. Molecular Cell 26:565-578. doi: 10.1016/j.molcel.2007.04.024.
    • (2007) Molecular Cell , vol.26 , pp. 565-578
    • Shell, S.S.1    Putnam, C.D.2    Kolodner, R.D.3
  • 58
    • 79953330804 scopus 로고    scopus 로고
    • MSH3 mediates sensitization of colorectal cancer cells to cisplatin, oxaliplatin, and a poly(ADP-ribose) polymerase inhibitor
    • Takahashi M, Koi M, Balaguer F, Boland CR, Goel A. 2011. MSH3 mediates sensitization of colorectal cancer cells to cisplatin, oxaliplatin, and a poly(ADP-ribose) polymerase inhibitor. The Journal of Biological Chemistry 286:12157-12165. doi: 10.1074/jbc.M110.198804.
    • (2011) The Journal of Biological Chemistry , vol.286 , pp. 12157-12165
    • Takahashi, M.1    Koi, M.2    Balaguer, F.3    Boland, C.R.4    Goel, A.5
  • 60
    • 84863922124 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of human colon and rectal cancer
    • TCGA. 2012. Comprehensive molecular characterization of human colon and rectal cancer. Nature 487:330-337. doi: 10.1038/nature11252.
    • (2012) Nature , vol.487 , pp. 330-337
    • TCGA1
  • 63
    • 34347230544 scopus 로고    scopus 로고
    • Sulforhodamine B colorimetric assay for cytotoxicity screening
    • Vichai V, Kirtikara K. 2006. Sulforhodamine B colorimetric assay for cytotoxicity screening. Nature Protocols 1:1112-1116. doi: 10.1038/nprot.2006.179.
    • (2006) Nature Protocols , vol.1 , pp. 1112-1116
    • Vichai, V.1    Kirtikara, K.2
  • 65
    • 0023205561 scopus 로고
    • A pragmatic approach to the analysis of DNA histograms with a definable G1 peak
    • Watson JV, Chambers SH, Smith PJ. 1987. A pragmatic approach to the analysis of DNA histograms with a definable G1 peak. Cytometry 8:1-8. doi: 10.1002/cyto.990080101.
    • (1987) Cytometry , vol.8 , pp. 1-8
    • Watson, J.V.1    Chambers, S.H.2    Smith, P.J.3
  • 66
    • 84880063629 scopus 로고    scopus 로고
    • From human genome to cancer genome: The first decade
    • Wheeler DA, Wang L. 2013. From human genome to cancer genome: the first decade. Genome Research 23:1054-1062. doi: 10.1101/gr.157602.113.
    • (2013) Genome Research , vol.23 , pp. 1054-1062
    • Wheeler, D.A.1    Wang, L.2
  • 68
    • 84897387657 scopus 로고    scopus 로고
    • Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
    • Zook JM, Chapman B, Wang J, Mittelman D, Hofmann O, Hide W, Salit M. 2014. Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nature Biotechnology 32:246-251. doi: 10.1038/nbt.2835.
    • (2014) Nature Biotechnology , vol.32 , pp. 246-251
    • Zook, J.M.1    Chapman, B.2    Wang, J.3    Mittelman, D.4    Hofmann, O.5    Hide, W.6    Salit, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.