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Volumn 67, Issue 2, 2007, Pages 465-473

Distinguishing cancer-associated missense mutations from common polymorphisms

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; ARTICLE; BIOINFORMATICS; CANCER CELL CULTURE; CANCER GENETICS; CANCER GROWTH; CONTROLLED STUDY; GENE TARGETING; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GENE;

EID: 33846650692     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-06-1736     Document Type: Article
Times cited : (106)

References (51)
  • 2
    • 20044381123 scopus 로고    scopus 로고
    • A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer
    • Stephens P, Edkins S, Davies H, et al. A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer. Nat Genet 2005;37:590-2.
    • (2005) Nat Genet , vol.37 , pp. 590-592
    • Stephens, P.1    Edkins, S.2    Davies, H.3
  • 3
    • 2342471392 scopus 로고    scopus 로고
    • Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib
    • Lynch TJ, Bell DW, Sordella R, et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 2004;350:2129-39.
    • (2004) N Engl J Med , vol.350 , pp. 2129-2139
    • Lynch, T.J.1    Bell, D.W.2    Sordella, R.3
  • 4
    • 4644368478 scopus 로고    scopus 로고
    • Inhibition of wild-type and mutant Bcr-Abl by AP23464, a potent ATP-based oncogenic protein kinase inhibitor: Implications for CML
    • O'Hare T, Pollock R, Stoffregen EP, et al. Inhibition of wild-type and mutant Bcr-Abl by AP23464, a potent ATP-based oncogenic protein kinase inhibitor: implications for CML. Blood 2004;104:2532-9.
    • (2004) Blood , vol.104 , pp. 2532-2539
    • O'Hare, T.1    Pollock, R.2    Stoffregen, E.P.3
  • 5
    • 2342624080 scopus 로고    scopus 로고
    • EGFR mutations in lung cancer: Correlation with clinical response to gefitinib therapy
    • Paez JG, Janne PA, Lee JC, et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 2004;304:1497-500.
    • (2004) Science , vol.304 , pp. 1497-1500
    • Paez, J.G.1    Janne, P.A.2    Lee, J.C.3
  • 6
    • 4444344330 scopus 로고    scopus 로고
    • EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib
    • Pao W, Miller V, Zakowski M, et al. EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc Natl Acad Scei U S A 2004;101:13306-11.
    • (2004) Proc Natl Acad Scei U S A , vol.101 , pp. 13306-13311
    • Pao, W.1    Miller, V.2    Zakowski, M.3
  • 7
  • 8
    • 33744486595 scopus 로고    scopus 로고
    • Pituitary adenoma predisposition caused by germline mutations in the AIP gene
    • Vierimaa O, Georgitsi M, Lehtonen R, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006;312:1228-30.
    • (2006) Science , vol.312 , pp. 1228-1230
    • Vierimaa, O.1    Georgitsi, M.2    Lehtonen, R.3
  • 9
    • 33746589029 scopus 로고    scopus 로고
    • MC1R germline variants confer risk for BRAF-mutant melanoma
    • Landi MT, Bauer J, Pfeiffer RM, et al. MC1R germline variants confer risk for BRAF-mutant melanoma. Science 2006;313:521-2.
    • (2006) Science , vol.313 , pp. 521-522
    • Landi, M.T.1    Bauer, J.2    Pfeiffer, R.M.3
  • 10
    • 23844445836 scopus 로고    scopus 로고
    • Colorectal cancer: Mutations in a signalling pathway
    • Parsons DW, Wang TL, Samuels Y, et al. Colorectal cancer: mutations in a signalling pathway. Nature 2005;436:792.
    • (2005) Nature , vol.436 , pp. 792
    • Parsons, D.W.1    Wang, T.L.2    Samuels, Y.3
  • 11
    • 28344439473 scopus 로고    scopus 로고
    • Going on a cancer gene hunt
    • Bonetta L. Going on a cancer gene hunt. Cell 2005;123:735-7.
    • (2005) Cell , vol.123 , pp. 735-737
    • Bonetta, L.1
  • 12
    • 0038670241 scopus 로고    scopus 로고
    • Mutational analysis of the tyrosine kinome in colorectal cancers
    • Bardelli A, Parsons DW, Silliman N, et al. Mutational analysis of the tyrosine kinome in colorectal cancers. Science 2003;300:949.
    • (2003) Science , vol.300 , pp. 949
    • Bardelli, A.1    Parsons, D.W.2    Silliman, N.3
  • 13
    • 13244252382 scopus 로고    scopus 로고
    • Loss of heterozygosity and its correlation with expression profiles in subclasses of invasive breast cancers
    • Wang ZC, Lin M, Wei LJ, et al. Loss of heterozygosity and its correlation with expression profiles in subclasses of invasive breast cancers. Cancer Res 2004;64:64-71.
    • (2004) Cancer Res , vol.64 , pp. 64-71
    • Wang, Z.C.1    Lin, M.2    Wei, L.J.3
  • 14
    • 13944284494 scopus 로고    scopus 로고
    • Oncogenic mutations of PIK3CA in human cancers
    • Samuels Y, Velculescu VE. Oncogenic mutations of PIK3CA in human cancers. Cell Cycle 2004;3:1221-4.
    • (2004) Cell Cycle , vol.3 , pp. 1221-1224
    • Samuels, Y.1    Velculescu, V.E.2
  • 15
    • 11144358645 scopus 로고    scopus 로고
    • High frequency of mutations of the PIK3CA gene in human cancers
    • Samuels Y, Wang Z, Bardelli A, et al. High frequency of mutations of the PIK3CA gene in human cancers. Science 2004;304:554.
    • (2004) Science , vol.304 , pp. 554
    • Samuels, Y.1    Wang, Z.2    Bardelli, A.3
  • 16
    • 24744453982 scopus 로고    scopus 로고
    • Somatic mutations of the protein kinase gene family in human lung cancer
    • Davies H, Hunter C, Smith R, et al. Somatic mutations of the protein kinase gene family in human lung cancer. Cancer Res 2005;65:7591-5.
    • (2005) Cancer Res , vol.65 , pp. 7591-7595
    • Davies, H.1    Hunter, C.2    Smith, R.3
  • 17
    • 24944546620 scopus 로고    scopus 로고
    • Genetic instability in cancer: Theory and experiment
    • Beckman RA, Loeb LA. Genetic instability in cancer: theory and experiment. Semin Cancer Biol 2005;15:423-35.
    • (2005) Semin Cancer Biol , vol.15 , pp. 423-435
    • Beckman, R.A.1    Loeb, L.A.2
  • 18
    • 0037453509 scopus 로고    scopus 로고
    • Lengauer C. Cancer. An unstable liaison. Science 2003;300:442-3.
    • Lengauer C. Cancer. An unstable liaison. Science 2003;300:442-3.
  • 19
    • 27244451321 scopus 로고    scopus 로고
    • Epidermal growth factor receptor gene mutations and increased copy numbers predict gefitinib sensitivity in patients with recurrent non-small-cell lung cancer
    • Takano T, Ohe Y, Sakamoto H, et al. Epidermal growth factor receptor gene mutations and increased copy numbers predict gefitinib sensitivity in patients with recurrent non-small-cell lung cancer. J Clin Oncol 2005;23:6829-37.
    • (2005) J Clin Oncol , vol.23 , pp. 6829-6837
    • Takano, T.1    Ohe, Y.2    Sakamoto, H.3
  • 20
    • 15744372810 scopus 로고    scopus 로고
    • KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib
    • Pao W, Wang TY, Riely GJ, et al. KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. PLoS Med 2005;2:e17.
    • (2005) PLoS Med , vol.2
    • Pao, W.1    Wang, T.Y.2    Riely, G.J.3
  • 21
    • 26944448262 scopus 로고    scopus 로고
    • In silico whole-genome scanning of cancer-associated nonsynonymous SNPs and molecular characterization of a dynein light chain tumour variant
    • Aouacheria A, Navratil V, Wen W, et al. In silico whole-genome scanning of cancer-associated nonsynonymous SNPs and molecular characterization of a dynein light chain tumour variant. Oncogene 2005;24:6133-42.
    • (2005) Oncogene , vol.24 , pp. 6133-6142
    • Aouacheria, A.1    Navratil, V.2    Wen, W.3
  • 22
    • 33645647271 scopus 로고    scopus 로고
    • Signs of positive selection of somatic mutations in human cancers detected by EST sequence analysis
    • Babenko VN, Basu MK, Kondrashov FA, Rogozin IB, Koonin EV. Signs of positive selection of somatic mutations in human cancers detected by EST sequence analysis. BMC Cancer 2006;6:36.
    • (2006) BMC Cancer , vol.6 , pp. 36
    • Babenko, V.N.1    Basu, M.K.2    Kondrashov, F.A.3    Rogozin, I.B.4    Koonin, E.V.5
  • 24
    • 7444227970 scopus 로고    scopus 로고
    • Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects
    • Thomas PD, Kejariwal A. Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc Natl Acad Sci U S A 2004;101:15398-403.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 15398-15403
    • Thomas, P.D.1    Kejariwal, A.2
  • 26
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-4.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • PC, N.1    Henikoff, S.2
  • 27
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002;30:3894-900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 28
    • 2442694043 scopus 로고    scopus 로고
    • Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms
    • Clifford RJ, Edmonson MN, Nguyen C, Buetow KH. Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms. Bioinformatics 2004;20:1006-14.
    • (2004) Bioinformatics , vol.20 , pp. 1006-1014
    • Clifford, R.J.1    Edmonson, M.N.2    Nguyen, C.3    Buetow, K.H.4
  • 29
    • 20844461337 scopus 로고    scopus 로고
    • LS-SNP: Large-scale annotation of coding non-synonymous SNPs based on multiple information sources
    • Karchin R, Diekhans M, Kelly L, et al. LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources. Bioinformatics 2005;21:2814-20.
    • (2005) Bioinformatics , vol.21 , pp. 2814-2820
    • Karchin, R.1    Diekhans, M.2    Kelly, L.3
  • 30
    • 27644489960 scopus 로고    scopus 로고
    • Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs
    • Barenboim M, Jamison DC, Vaisman II. Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs. Hum Mutat 2005;26:471-6.
    • (2005) Hum Mutat , vol.26 , pp. 471-476
    • Barenboim, M.1    Jamison, D.C.2    Vaisman II3
  • 31
    • 32044453591 scopus 로고    scopus 로고
    • Identification and analysis of deleterious human SNPs
    • Yue P, Moult J. Identification and analysis of deleterious human SNPs. J Mol Biol 2006;356:1263-74.
    • (2006) J Mol Biol , vol.356 , pp. 1263-1274
    • Yue, P.1    Moult, J.2
  • 32
    • 0344033683 scopus 로고    scopus 로고
    • A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function
    • Krishnan VG, Westhead DR. A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function. Bioinformatics 2003;19:2199-209.
    • (2003) Bioinformatics , vol.19 , pp. 2199-2209
    • Krishnan, V.G.1    Westhead, D.R.2
  • 33
    • 19544392545 scopus 로고    scopus 로고
    • Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information
    • Bao L, Cui Y. Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information. Bioinformatics 2005;21:2185-90.
    • (2005) Bioinformatics , vol.21 , pp. 2185-2190
    • Bao, L.1    Cui, Y.2
  • 34
    • 2442648882 scopus 로고    scopus 로고
    • Mutational analysis of the tyrosine phosphatome in colorectal cancers
    • Wang Z, Shen D, Parsons DW, et al. Mutational analysis of the tyrosine phosphatome in colorectal cancers. Science 2004;304:1164-6.
    • (2004) Science , vol.304 , pp. 1164-1166
    • Wang, Z.1    Shen, D.2    Parsons, D.W.3
  • 35
    • 18744383071 scopus 로고    scopus 로고
    • GMAP: A genomic mapping and alignment program for mRNA and EST sequences
    • Wu TD, Watanabe CK. GMAP: a genomic mapping and alignment program for mRNA and EST sequences. Bioinformatics 2005;21:1859-75.
    • (2005) Bioinformatics , vol.21 , pp. 1859-1875
    • TD, W.1    Watanabe, C.K.2
  • 36
    • 0032952229 scopus 로고    scopus 로고
    • Bateman A, Birney E, Durbin R, Eddy SR, Finn RD, Sonnhammer EL. Pfam 3.1: 1313 multiple alignments and profile HMMs match the majority of proteins. Nucleic Acids Res 1999;27:260-2.
    • Bateman A, Birney E, Durbin R, Eddy SR, Finn RD, Sonnhammer EL. Pfam 3.1: 1313 multiple alignments and profile HMMs match the majority of proteins. Nucleic Acids Res 1999;27:260-2.
  • 37
    • 0024536654 scopus 로고
    • Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas
    • Baker SJ, Fearon ER, Nigro JM, et al. Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science 1989;244:217-21.
    • (1989) Science , vol.244 , pp. 217-221
    • Baker, S.J.1    Fearon, E.R.2    Nigro, J.M.3
  • 38
    • 14444269482 scopus 로고    scopus 로고
    • MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines
    • Teng DH, Hu R, Lin H, et al. MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines. Cancer Res 1997;57:5221-5.
    • (1997) Cancer Res , vol.57 , pp. 5221-5225
    • Teng, D.H.1    Hu, R.2    Lin, H.3
  • 39
    • 0032549041 scopus 로고    scopus 로고
    • p16/MTS1 inactivation in ovarian carcinomas: High frequency of reduced protein expression associated with hypermethylation or mutation in endometrioid and mucinous tumors
    • Milde-Langosch K, Ocon E, Becker G, Loning T. p16/MTS1 inactivation in ovarian carcinomas: high frequency of reduced protein expression associated with hypermethylation or mutation in endometrioid and mucinous tumors. Int J Cancer 1998;79:61-5.
    • (1998) Int J Cancer , vol.79 , pp. 61-65
    • Milde-Langosch, K.1    Ocon, E.2    Becker, G.3    Loning, T.4
  • 40
    • 18444374405 scopus 로고    scopus 로고
    • Mutations of the BRAF gene in human cancer
    • Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417:949-54.
    • (2002) Nature , vol.417 , pp. 949-954
    • Davies, H.1    Bignell, G.R.2    Cox, C.3
  • 41
    • 0024387728 scopus 로고
    • Mutations in the p53 gene occur in diverse human tumour types
    • Nigro JM, Baker SJ, Preisinger AC, et al. Mutations in the p53 gene occur in diverse human tumour types. Nature 1989;342:705-8.
    • (1989) Nature , vol.342 , pp. 705-708
    • Nigro, J.M.1    Baker, S.J.2    Preisinger, A.C.3
  • 42
    • 0028856070 scopus 로고
    • Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder
    • Nagata H, Worobec AS, Oh CK, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A 1995;92:10560-4.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 10560-10564
    • Nagata, H.1    Worobec, A.S.2    Oh, C.K.3
  • 43
    • 0242670019 scopus 로고    scopus 로고
    • PDGFRA activating mutations in gastrointestinal stromal tumors
    • Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003;299:708-10.
    • (2003) Science , vol.299 , pp. 708-710
    • Heinrich, M.C.1    Corless, C.L.2    Duensing, A.3
  • 44
    • 17644424955 scopus 로고    scopus 로고
    • A gain-of-function mutation of JAK2 in myeloproliferative disorders
    • Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352:1779-90.
    • (2005) N Engl J Med , vol.352 , pp. 1779-1790
    • Kralovics, R.1    Passamonti, F.2    Buser, A.S.3
  • 45
    • 12344313069 scopus 로고    scopus 로고
    • Mutational analysis of gene families in human cancer
    • Bardelli A, Velculescu VE. Mutational analysis of gene families in human cancer. Curr Opin Genet Dev 2005;15:5-12.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 5-12
    • Bardelli, A.1    Velculescu, V.E.2
  • 46
    • 30644464444 scopus 로고    scopus 로고
    • Gene selection and classification of microarray data using random forest
    • Diaz-Uriarte R, Alvarez de Andres S. Gene selection and classification of microarray data using random forest. BMC Bioinformatics 2006;7:3.
    • (2006) BMC Bioinformatics , vol.7 , pp. 3
    • Diaz-Uriarte, R.1    Alvarez de Andres, S.2
  • 47
    • 33749993417 scopus 로고    scopus 로고
    • The consensus coding sequences of human breast and colorectal cancers
    • Sjoblom T, Jones S, Wood LD, et al. The consensus coding sequences of human breast and colorectal cancers. Science 2006;314:268-74.
    • (2006) Science , vol.314 , pp. 268-274
    • Sjoblom, T.1    Jones, S.2    Wood, L.D.3
  • 49
    • 29244469466 scopus 로고    scopus 로고
    • The epigenetic progenitor origin of human cancer
    • Feinberg AP, Ohlsson R, Henikoff S. The epigenetic progenitor origin of human cancer. Nat Rev Genet 2006;7:21-33.
    • (2006) Nat Rev Genet , vol.7 , pp. 21-33
    • Feinberg, A.P.1    Ohlsson, R.2    Henikoff, S.3
  • 50
    • 14844318078 scopus 로고    scopus 로고
    • Identification of cancer genes by mutational profiling of tumor genomes
    • Benvenuti S, Arena S, Bardelli A. Identification of cancer genes by mutational profiling of tumor genomes. FEBS Lett 2005;579:1884-90.
    • (2005) FEBS Lett , vol.579 , pp. 1884-1890
    • Benvenuti, S.1    Arena, S.2    Bardelli, A.3


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