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Volumn 135, Issue 3, 2014, Pages 611-623

Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer

Author keywords

ARID1A; ARID1B; ARID2; ARID4A; Colorectal cancer

Indexed keywords

ARID1A GENE; ARID1B GENE; ARID2 GENE; ARID4A GENE; ARTICLE; CANCER GRADING; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MALE; MICROSATELLITE INSTABILITY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION; TUMOR GENE; VALIDATION PROCESS;

EID: 84901011543     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.28705     Document Type: Article
Times cited : (105)

References (49)
  • 2
    • 84863922124 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of human colon and rectal cancer
    • Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012; 487: 330-7.
    • (2012) Nature , vol.487 , pp. 330-337
  • 4
    • 0037194728 scopus 로고    scopus 로고
    • Tumorigenesis: Raf/ras oncogenes and mismatch-repair status
    • et al.
    • Rajagopalan H, Bardelli A, Lengauer C, et al. Tumorigenesis: Raf/ras oncogenes and mismatch-repair status. Nature 2002; 418: 934.
    • (2002) Nature , vol.418 , pp. 934
    • Rajagopalan, H.1    Bardelli, A.2    Lengauer, C.3
  • 5
    • 84883142599 scopus 로고    scopus 로고
    • Identification of candidate oncogenes in human colorectal cancers with microsatellite instability
    • et al.:. e522.
    • Gylfe AE, Kondelin J, Turunen M, et al. Identification of candidate oncogenes in human colorectal cancers with microsatellite instability. Gastroenterology 2013; 145: 540-3. e522.
    • (2013) Gastroenterology , vol.145 , pp. 540-543
    • Gylfe, A.E.1    Kondelin, J.2    Turunen, M.3
  • 6
    • 77957731999 scopus 로고    scopus 로고
    • Frequent mutations of chromatin remodeling gene arid1a in ovarian clear cell carcinoma
    • et al.
    • Jones S, Wang TL, Shih IM, et al. Frequent mutations of chromatin remodeling gene arid1a in ovarian clear cell carcinoma. Science 2010; 330: 228-31.
    • (2010) Science , vol.330 , pp. 228-231
    • Jones, S.1    Wang, T.L.2    Shih, I.M.3
  • 7
    • 77957946398 scopus 로고    scopus 로고
    • Arid1a mutations in endometriosis-associated ovarian carcinomas
    • et al.
    • Wiegand KC, Shah SP, Al-Agha OM, et al. Arid1a mutations in endometriosis-associated ovarian carcinomas. N Engl J Med 2010; 363: 1532-43.
    • (2010) N Engl J Med , vol.363 , pp. 1532-1543
    • Wiegand, K.C.1    Shah, S.P.2    Al-Agha, O.M.3
  • 8
    • 82255183148 scopus 로고    scopus 로고
    • Exome sequencing identifies frequent mutation of arid1a in molecular subtypes of gastric cancer
    • et al.
    • Wang K, Kan J, Yuen ST, et al. Exome sequencing identifies frequent mutation of arid1a in molecular subtypes of gastric cancer. Nat Genet 2011; 43: 1219-23.
    • (2011) Nat Genet , vol.43 , pp. 1219-1223
    • Wang, K.1    Kan, J.2    Yuen, S.T.3
  • 9
    • 84857129204 scopus 로고    scopus 로고
    • Convergent structural alterations define switch/sucrose nonfermentable (swi/snf) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer
    • et al.
    • Shain AH, Giacomini CP, Matsukuma K, et al. Convergent structural alterations define switch/sucrose nonfermentable (swi/snf) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer. Proc Natl Acad Sci USA 2012; 109: E252-9.
    • (2012) Proc Natl Acad Sci USA , vol.109
    • Shain, A.H.1    Giacomini, C.P.2    Matsukuma, K.3
  • 10
    • 84859899141 scopus 로고    scopus 로고
    • An integrated genomic approach identifies arid1a as a candidate tumor-suppressor gene in breast cancer
    • et al.
    • Mamo A, Cavallone L, Tuzmen S, et al. An integrated genomic approach identifies arid1a as a candidate tumor-suppressor gene in breast cancer. Oncogene 2012; 31: 2090-100.
    • (2012) Oncogene , vol.31 , pp. 2090-2100
    • Mamo, A.1    Cavallone, L.2    Tuzmen, S.3
  • 11
    • 84857467474 scopus 로고    scopus 로고
    • Somatic mutations in the chromatin remodeling gene arid1a occur in several tumor types
    • et al.
    • Jones S, Li M, Parsons DW, et al. Somatic mutations in the chromatin remodeling gene arid1a occur in several tumor types. Hum Mutat 2012; 33: 100-3.
    • (2012) Hum Mutat , vol.33 , pp. 100-103
    • Jones, S.1    Li, M.2    Parsons, D.W.3
  • 12
    • 84861625981 scopus 로고    scopus 로고
    • Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma
    • et al.
    • Guichard C, Amaddeo G, Imbeaud S, et al. Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma. Nat Genet 2012; 44: 694-8.
    • (2012) Nat Genet , vol.44 , pp. 694-698
    • Guichard, C.1    Amaddeo, G.2    Imbeaud, S.3
  • 13
    • 80052266351 scopus 로고    scopus 로고
    • Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder
    • et al.
    • Gui Y, Guo G, Huang Y, et al. Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet 2011; 43: 875-8.
    • (2011) Nat Genet , vol.43 , pp. 875-878
    • Gui, Y.1    Guo, G.2    Huang, Y.3
  • 14
    • 84865475885 scopus 로고    scopus 로고
    • Myd88 l265p somatic mutation in waldenstrom's macroglobulinemia
    • et al.
    • Treon SP, Xu L, Yang G, et al. Myd88 l265p somatic mutation in waldenstrom's macroglobulinemia. N Engl J Med 2012; 367: 826-33.
    • (2012) N Engl J Med , vol.367 , pp. 826-833
    • Treon, S.P.1    Xu, L.2    Yang, G.3
  • 15
    • 84893731241 scopus 로고    scopus 로고
    • Arid1a loss correlates with mismatch repair deficiency and intact p53 expression in high-grade endometrial carcinomas
    • et al. in press. doi: 10.1038/modpathol.2013.144.
    • Allo G, Bernardini MQ, Wu RC, et al. Arid1a loss correlates with mismatch repair deficiency and intact p53 expression in high-grade endometrial carcinomas. Mod Pathol; in press. doi: 10.1038/modpathol.2013.144.
    • Mod Pathol
    • Allo, G.1    Bernardini, M.Q.2    Wu, R.C.3
  • 16
    • 0036250668 scopus 로고    scopus 로고
    • Arid proteins: A diverse family of DNA binding proteins implicated in the control of cell growth, differentiation, and development
    • et al.
    • Wilsker D, Patsialou A, Dallas PB, et al. Arid proteins: a diverse family of DNA binding proteins implicated in the control of cell growth, differentiation, and development. Cell Growth Differ 2002; 13: 95-106.
    • (2002) Cell Growth Differ , vol.13 , pp. 95-106
    • Wilsker, D.1    Patsialou, A.2    Dallas, P.B.3
  • 17
    • 13744250058 scopus 로고    scopus 로고
    • DNA-binding properties of arid family proteins
    • Patsialou A, Wilsker D, Moran E,. DNA-binding properties of arid family proteins. Nucleic Acids Res 2005; 33: 66-80.
    • (2005) Nucleic Acids Res , vol.33 , pp. 66-80
    • Patsialou, A.1    Wilsker, D.2    Moran, E.3
  • 18
    • 0032555020 scopus 로고    scopus 로고
    • Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
    • et al.
    • Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998; 338: 1481-7.
    • (1998) N Engl J Med , vol.338 , pp. 1481-1487
    • Aaltonen, L.A.1    Salovaara, R.2    Kristo, P.3
  • 19
    • 0034129240 scopus 로고    scopus 로고
    • Population-based molecular detection of hereditary nonpolyposis colorectal cancer
    • et al.
    • Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000; 18: 2193-200.
    • (2000) J Clin Oncol , vol.18 , pp. 2193-2200
    • Salovaara, R.1    Loukola, A.2    Kristo, P.3
  • 20
    • 84879352608 scopus 로고    scopus 로고
    • Primary mediastinal large b-cell lymphoma segregating in a family: Exome sequencing identifies mll as a candidate predisposition gene
    • et al.
    • Saarinen S, Kaasinen E, Karjalainen-Lindsberg ML, et al. Primary mediastinal large b-cell lymphoma segregating in a family: exome sequencing identifies mll as a candidate predisposition gene. Blood 2013; 121: 3428-30.
    • (2013) Blood , vol.121 , pp. 3428-3430
    • Saarinen, S.1    Kaasinen, E.2    Karjalainen-Lindsberg, M.L.3
  • 21
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with burrows-wheeler transform
    • Li H, Durbin R,. Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics 2009; 25: 1754-60.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 22
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • et al.
    • DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011; 43: 491-8.
    • (2011) Nat Genet , vol.43 , pp. 491-498
    • Depristo, M.A.1    Banks, E.2    Poplin, R.3
  • 23
    • 0035173378 scopus 로고    scopus 로고
    • Dbsnp: The ncbi database of genetic variation
    • et al.
    • Sherry ST, Ward MH, Kholodov M, et al. Dbsnp: the ncbi database of genetic variation. Nucleic Acids Res 2001; 29: 308-11.
    • (2001) Nucleic Acids Res , vol.29 , pp. 308-311
    • Sherry, S.T.1    Ward, M.H.2    Kholodov, M.3
  • 24
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • et al.
    • Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 26
    • 84866544635 scopus 로고    scopus 로고
    • Mutations and deletions of arid1a in breast tumors
    • et al.
    • Cornen S, Adelaide J, Bertucci F, et al. Mutations and deletions of arid1a in breast tumors. Oncogene 2012; 31: 4255-6.
    • (2012) Oncogene , vol.31 , pp. 4255-4256
    • Cornen, S.1    Adelaide, J.2    Bertucci, F.3
  • 27
    • 84872868948 scopus 로고    scopus 로고
    • Arid1a mutations in cancer: Another epigenetic tumor suppressor?
    • Wu JN, Roberts CW,. Arid1a mutations in cancer: another epigenetic tumor suppressor? Cancer Discov 2013; 3: 35-43.
    • (2013) Cancer Discov , vol.3 , pp. 35-43
    • Wu, J.N.1    Roberts, C.W.2
  • 28
    • 7444246651 scopus 로고    scopus 로고
    • Two related arid family proteins are alternative subunits of human swi/snf complexes
    • et al.
    • Wang X, Nagl NG, Wilsker D, et al. Two related arid family proteins are alternative subunits of human swi/snf complexes. Biochem J 2004; 383: 319-25.
    • (2004) Biochem J , vol.383 , pp. 319-325
    • Wang, X.1    Nagl, N.G.2    Wilsker, D.3
  • 29
    • 34250811518 scopus 로고    scopus 로고
    • Background mutation frequency in microsatellite-unstable colorectal cancer
    • et al.
    • Sammalkorpi H, Alhopuro P, Lehtonen R, et al. Background mutation frequency in microsatellite-unstable colorectal cancer. Cancer Res 2007; 67: 5691-8.
    • (2007) Cancer Res , vol.67 , pp. 5691-5698
    • Sammalkorpi, H.1    Alhopuro, P.2    Lehtonen, R.3
  • 30
    • 84862976633 scopus 로고    scopus 로고
    • Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators
    • et al.
    • Fujimoto A, Totoki Y, Abe T, et al. Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat Genet 2012; 44: 760-4.
    • (2012) Nat Genet , vol.44 , pp. 760-764
    • Fujimoto, A.1    Totoki, Y.2    Abe, T.3
  • 31
    • 84878593111 scopus 로고    scopus 로고
    • Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity
    • et al.
    • Dulak AM, Stojanov P, Peng S, et al. Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. Nat Genet 2013; 45: 478-6.
    • (2013) Nat Genet , vol.45 , pp. 478-476
    • Dulak, A.M.1    Stojanov, P.2    Peng, S.3
  • 32
    • 84871982155 scopus 로고    scopus 로고
    • Integrated genomic analyses identify arid1a and arid1b alterations in the childhood cancer neuroblastoma
    • et al.
    • Sausen M, Leary RJ, Jones S, et al. Integrated genomic analyses identify arid1a and arid1b alterations in the childhood cancer neuroblastoma. Nat Genet 2013; 45: 12-7.
    • (2013) Nat Genet , vol.45 , pp. 12-17
    • Sausen, M.1    Leary, R.J.2    Jones, S.3
  • 33
    • 84878745222 scopus 로고    scopus 로고
    • Proteomic and bioinformatic analysis of mammalian swi/snf complexes identifies extensive roles in human malignancy
    • et al.
    • Kadoch C, Hargreaves DC, Hodges C, et al. Proteomic and bioinformatic analysis of mammalian swi/snf complexes identifies extensive roles in human malignancy. Nat Genet 2013; 45: 592-601.
    • (2013) Nat Genet , vol.45 , pp. 592-601
    • Kadoch, C.1    Hargreaves, D.C.2    Hodges, C.3
  • 34
    • 84872810488 scopus 로고    scopus 로고
    • The spectrum of swi/snf mutations, ubiquitous in human cancers
    • Shain AH, Pollack JR,. The spectrum of swi/snf mutations, ubiquitous in human cancers. PLoS One 2013; 8: e55119.
    • (2013) PLoS One , vol.8
    • Shain, A.H.1    Pollack, J.R.2
  • 35
    • 33846977688 scopus 로고    scopus 로고
    • Distinct mammalian swi/snf chromatin remodeling complexes with opposing roles in cell-cycle control
    • et al.
    • Nagl NG, Jr, Wang X, Patsialou A, et al. Distinct mammalian swi/snf chromatin remodeling complexes with opposing roles in cell-cycle control. EMBO J 2007; 26: 752-63.
    • (2007) EMBO J , vol.26 , pp. 752-763
    • Nagl, Jr.N.G.1    Wang, X.2    Patsialou, A.3
  • 36
    • 84861576201 scopus 로고    scopus 로고
    • The landscape of cancer genes and mutational processes in breast cancer
    • et al.
    • Stephens PJ, Tarpey PS, Davies H, et al. The landscape of cancer genes and mutational processes in breast cancer. Nature 2012; 486: 400-4.
    • (2012) Nature , vol.486 , pp. 400-404
    • Stephens, P.J.1    Tarpey, P.S.2    Davies, H.3
  • 37
    • 23044461703 scopus 로고    scopus 로고
    • Pbaf chromatin-remodeling complex requires a novel specificity subunit, baf200, to regulate expression of selective interferon-responsive genes
    • et al.
    • Yan Z, Cui K, Murray DM, et al. Pbaf chromatin-remodeling complex requires a novel specificity subunit, baf200, to regulate expression of selective interferon-responsive genes. Genes Dev 2005; 19: 1662-7.
    • (2005) Genes Dev , vol.19 , pp. 1662-1667
    • Yan, Z.1    Cui, K.2    Murray, D.M.3
  • 38
    • 84856888719 scopus 로고    scopus 로고
    • Essential role of arid2 protein-containing swi/snf complex in tissue-specific gene expression
    • Xu F, Flowers S, Moran E,. Essential role of arid2 protein-containing swi/snf complex in tissue-specific gene expression. J Biol Chem 2012; 287: 5033-41.
    • (2012) J Biol Chem , vol.287 , pp. 5033-5041
    • Xu, F.1    Flowers, S.2    Moran, E.3
  • 39
    • 80052271807 scopus 로고    scopus 로고
    • Inactivating mutations of the chromatin remodeling gene arid2 in hepatocellular carcinoma
    • et al.
    • Li M, Zhao H, Zhang X, et al. Inactivating mutations of the chromatin remodeling gene arid2 in hepatocellular carcinoma. Nat Genet 2011; 43: 828-9.
    • (2011) Nat Genet , vol.43 , pp. 828-829
    • Li, M.1    Zhao, H.2    Zhang, X.3
  • 40
    • 84874111393 scopus 로고    scopus 로고
    • Recurrent inactivating mutations of arid2 in non-small cell lung carcinoma
    • et al.
    • Manceau G, Letouze E, Guichard C, et al. Recurrent inactivating mutations of arid2 in non-small cell lung carcinoma. Int J Cancer 2013; 132: 2217-21.
    • (2013) Int J Cancer , vol.132 , pp. 2217-2221
    • Manceau, G.1    Letouze, E.2    Guichard, C.3
  • 41
    • 84869091997 scopus 로고    scopus 로고
    • Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
    • et al.
    • Biankin AV, Waddell N, Kassahn KS, et al. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature 2012; 491: 399-405.
    • (2012) Nature , vol.491 , pp. 399-405
    • Biankin, A.V.1    Waddell, N.2    Kassahn, K.S.3
  • 42
    • 84864258996 scopus 로고    scopus 로고
    • A landscape of driver mutations in melanoma
    • et al.
    • Hodis E, Watson IR, Kryukov GV, et al. A landscape of driver mutations in melanoma. Cell 2012; 150: 251-63.
    • (2012) Cell , vol.150 , pp. 251-263
    • Hodis, E.1    Watson, I.R.2    Kryukov, G.V.3
  • 43
    • 0025734783 scopus 로고
    • The t/e1a-binding domain of the retinoblastoma product can interact selectively with a sequence-specific DNA-binding protein
    • Chittenden T, Livingston DM, Kaelin WG, Jr,. The t/e1a-binding domain of the retinoblastoma product can interact selectively with a sequence-specific DNA-binding protein. Cell 1991; 65: 1073-82.
    • (1991) Cell , vol.65 , pp. 1073-1082
    • Chittenden, T.1    Livingston, D.M.2    Kaelin, Jr.W.G.3
  • 44
    • 0032849352 scopus 로고    scopus 로고
    • Rbp1 recruits both histone deacetylase-dependent and-independent repression activities to retinoblastoma family proteins
    • et al.
    • Lai A, Lee JM, Yang WM, et al. Rbp1 recruits both histone deacetylase-dependent and-independent repression activities to retinoblastoma family proteins. Mol Cell Biol 1999; 19: 6632-41.
    • (1999) Mol Cell Biol , vol.19 , pp. 6632-6641
    • Lai, A.1    Lee, J.M.2    Yang, W.M.3
  • 45
    • 77952828385 scopus 로고    scopus 로고
    • Genomics and proteomics approaches to the study of cancer-stroma interactions
    • et al.
    • Rodrigues-Lisoni FC, Peitl P, Jr, Vidotto A, et al. Genomics and proteomics approaches to the study of cancer-stroma interactions. BMC Med Genomics 2010; 3: 14.
    • (2010) BMC Med Genomics , vol.3 , pp. 14
    • Rodrigues-Lisoni, F.C.1    Peitl, Jr.P.2    Vidotto, A.3
  • 46
    • 43149092915 scopus 로고    scopus 로고
    • Alterations of brms1-arid4a interaction modify gene expression but still suppress metastasis in human breast cancer cells
    • et al.
    • Hurst DR, Xie Y, Vaidya KS, et al. Alterations of brms1-arid4a interaction modify gene expression but still suppress metastasis in human breast cancer cells. J Biol Chem 2008; 283: 7438-44.
    • (2008) J Biol Chem , vol.283 , pp. 7438-7444
    • Hurst, D.R.1    Xie, Y.2    Vaidya, K.S.3
  • 47
    • 51749123590 scopus 로고    scopus 로고
    • Identification of chromatin remodeling genes arid4a and arid4b as leukemia suppressor genes
    • Wu MY, Eldin KW, Beaudet AL,. Identification of chromatin remodeling genes arid4a and arid4b as leukemia suppressor genes. J Natl Cancer Inst 2008; 100: 1247-59.
    • (2008) J Natl Cancer Inst , vol.100 , pp. 1247-1259
    • Wu, M.Y.1    Eldin, K.W.2    Beaudet, A.L.3
  • 48
    • 84878600534 scopus 로고    scopus 로고
    • Arid1b, a member of the human swi/snf chromatin remodeling complex, exhibits tumour-suppressor activities in pancreatic cancer cell lines
    • et al.
    • Khursheed M, Kolla JN, Kotapalli V, et al. Arid1b, a member of the human swi/snf chromatin remodeling complex, exhibits tumour-suppressor activities in pancreatic cancer cell lines. Br J Cancer 2013; 108: 2056-62.
    • (2013) Br J Cancer , vol.108 , pp. 2056-2062
    • Khursheed, M.1    Kolla, J.N.2    Kotapalli, V.3
  • 49
    • 84859427243 scopus 로고    scopus 로고
    • Mutations affecting components of the swi/snf complex cause coffin-siris syndrome
    • et al.
    • Tsurusaki Y, Okamoto N, Ohashi H, et al. Mutations affecting components of the swi/snf complex cause coffin-siris syndrome. Nat Genet 2012; 44: 376-8.
    • (2012) Nat Genet , vol.44 , pp. 376-378
    • Tsurusaki, Y.1    Okamoto, N.2    Ohashi, H.3


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