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Volumn 104, Issue 5, 2005, Pages 952-961

BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors

Author keywords

Colorectal carcinomas; Colorectal neoplasms, hereditary nonpolyposis; DNA repair

Indexed keywords

ADULT; AGED; ARTICLE; BRAF GENE; CLINICAL ARTICLE; COLORECTAL CANCER; COLORECTAL CARCINOMA; EPIGENETICS; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; HMLH1 GENE; HMSH2 GENE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; METHYLATION; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; ONCOGENE K RAS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION;

EID: 23844487761     PISSN: 0008543X     EISSN: None     Source Type: Journal    
DOI: 10.1002/cncr.21266     Document Type: Article
Times cited : (63)

References (43)
  • 2
    • 0034762203 scopus 로고    scopus 로고
    • The Raf/MEK/ERK pathway: New concepts of activation
    • Peyssonnaux C, Eychene A. The Raf/MEK/ERK pathway: new concepts of activation. Biol Cell. 2001;93:53-62.
    • (2001) Biol Cell , vol.93 , pp. 53-62
    • Peyssonnaux, C.1    Eychene, A.2
  • 4
    • 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;417:949-954.
    • (2002) Nature , vol.417 , pp. 949-954
    • Davies, H.1    Bignell, G.R.2    Cox, C.3
  • 5
    • 0346752519 scopus 로고    scopus 로고
    • BRAF mutations in non-Hodgkin's lymphoma
    • Lee JW, Yoo NJ, Soung YH, et al. BRAF mutations in non-Hodgkin's lymphoma. Br J Cancer. 2003;89:1958-1960.
    • (2003) Br J Cancer , vol.89 , pp. 1958-1960
    • Lee, J.W.1    Yoo, N.J.2    Soung, Y.H.3
  • 6
    • 0242574321 scopus 로고    scopus 로고
    • BRAF and KRAS mutations in stomach cancer
    • Lee SH, Lee JW, Soung YH, et al. BRAF and KRAS mutations in stomach cancer. Oncogene. 2003;22:6942-6945.
    • (2003) Oncogene , vol.22 , pp. 6942-6945
    • Lee, S.H.1    Lee, J.W.2    Soung, Y.H.3
  • 7
    • 0036894746 scopus 로고    scopus 로고
    • BRAF and RAS mutations in human lung cancer and melanoma
    • Brose MS, Volpe P, Feldman M, et al. BRAF and RAS mutations in human lung cancer and melanoma. Cancer Res. 2002;62:6997-7000.
    • (2002) Cancer Res , vol.62 , pp. 6997-7000
    • Brose, M.S.1    Volpe, P.2    Feldman, M.3
  • 8
    • 12144289677 scopus 로고    scopus 로고
    • Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF
    • Wan PT, Garnett MJ, Roe SM, et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell. 2004;116:855-867.
    • (2004) Cell , vol.116 , pp. 855-867
    • Wan, P.T.1    Garnett, M.J.2    Roe, S.M.3
  • 9
    • 0032146118 scopus 로고    scopus 로고
    • Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability
    • Cunningham JM, Christensen ER, Tester DJ, et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 1998;58:3455-3460.
    • (1998) Cancer Res , vol.58 , pp. 3455-3460
    • Cunningham, J.M.1    Christensen, E.R.2    Tester, D.J.3
  • 10
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75:1027-1038.
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.K.2    Rao, M.R.3
  • 11
    • 0028221943 scopus 로고
    • Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer
    • Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994; 368:258-261.
    • (1994) Nature , vol.368 , pp. 258-261
    • Bronner, C.E.1    Baker, S.M.2    Morrison, P.T.3
  • 12
    • 0030803659 scopus 로고    scopus 로고
    • Strand-specific mismatch repair in mammalian cells
    • Modrich P. Strand-specific mismatch repair in mammalian cells. J Biol Chem. 1997;272:24727-24730.
    • (1997) J Biol Chem , vol.272 , pp. 24727-24730
    • Modrich, P.1
  • 13
    • 7444228694 scopus 로고    scopus 로고
    • BAX and caspase-5 frameshift mutations and spontaneous apoptosis in colorectal cancer with microsatellite instability
    • Trojan J, Brieger A, Raedle J, Weber N, Kriener S, Kronenberger B et al. BAX and caspase-5 frameshift mutations and spontaneous apoptosis in colorectal cancer with microsatellite instability. Int J Colorectal Dis. 2004;19:538-544.
    • (2004) Int J Colorectal Dis , vol.19 , pp. 538-544
    • Trojan, J.1    Brieger, A.2    Raedle, J.3    Weber, N.4    Kriener, S.5    Kronenberger, B.6
  • 14
    • 0033984095 scopus 로고    scopus 로고
    • Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis
    • Guanti G, Resta N, Simone C, et al. Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis. Hum Mol Genet. 2000;9:283-287.
    • (2000) Hum Mol Genet , vol.9 , pp. 283-287
    • Guanti, G.1    Resta, N.2    Simone, C.3
  • 15
    • 0035965935 scopus 로고    scopus 로고
    • PTEN gene mutations in colorectal cancers displaying microsatellite instability
    • Shin KH, Park YJ, Park JG. PTEN gene mutations in colorectal cancers displaying microsatellite instability. Cancer Lett. 2001;174:189-194.
    • (2001) Cancer Lett , vol.174 , pp. 189-194
    • Shin, K.H.1    Park, Y.J.2    Park, J.G.3
  • 16
    • 0032849832 scopus 로고    scopus 로고
    • Hereditary nonpolyposis colorectal cancer (HNPCC)
    • Lynch HT. Hereditary nonpolyposis colorectal cancer (HNPCC). Cytogenet Cell Genet. 1999;86:130-135.
    • (1999) Cytogenet Cell Genet , vol.86 , pp. 130-135
    • Lynch, H.T.1
  • 17
    • 0029089259 scopus 로고
    • Hereditary nonpolyposis colorectal cancer: The syndrome, the genes, and historical perspectives
    • Marra G, Boland CR. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst. 1995;87:1114-1125.
    • (1995) J Natl Cancer Inst , vol.87 , pp. 1114-1125
    • Marra, G.1    Boland, C.R.2
  • 19
    • 0035899946 scopus 로고    scopus 로고
    • Bethesda guidelines: Relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer
    • Raedle J, Trojan J, Brieger A, et al. Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer. Ann Intern Med. 2001;135:566-576.
    • (2001) Ann Intern Med , vol.135 , pp. 566-576
    • Raedle, J.1    Trojan, J.2    Brieger, A.3
  • 21
    • 13144266670 scopus 로고    scopus 로고
    • Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
    • Herman JG, Umar A, Polyak K, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA. 1998;95: 6870-6875.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6870-6875
    • Herman, J.G.1    Umar, A.2    Polyak, K.3
  • 22
    • 0035117962 scopus 로고    scopus 로고
    • Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer
    • Grady WM, Rajput A, Lutterbaugh JD, Markowitz SD. Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer. Cancer Res. 2001;61:900-902.
    • (2001) Cancer Res , vol.61 , pp. 900-902
    • Grady, W.M.1    Rajput, A.2    Lutterbaugh, J.D.3    Markowitz, S.D.4
  • 23
    • 0036143918 scopus 로고    scopus 로고
    • Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system
    • Trojan J, Zeuzem S, Randolph A, et al. Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. Gastroenterology. 2002;122:211-219.
    • (2002) Gastroenterology , vol.122 , pp. 211-219
    • Trojan, J.1    Zeuzem, S.2    Randolph, A.3
  • 24
    • 9144271690 scopus 로고    scopus 로고
    • Activated BRAF targets proximal colon tumors with mismatch repair deficiency and MLH1 inactivation
    • Domingo E, Espin E, Armengol M, et al. Activated BRAF targets proximal colon tumors with mismatch repair deficiency and MLH1 inactivation. Genes Chromosomes Cancer. 2004;39:138-142.
    • (2004) Genes Chromosomes Cancer , vol.39 , pp. 138-142
    • Domingo, E.1    Espin, E.2    Armengol, M.3
  • 25
    • 0037065954 scopus 로고    scopus 로고
    • Methylation of hMLH1 promoter correlates with the gene silencing with a region-specific manner in colorectal cancer
    • Deng G, Peng E, Gum J, Terdiman J, Sleisenger M, Kim YS. Methylation of hMLH1 promoter correlates with the gene silencing with a region-specific manner in colorectal cancer. Br J Cancer. 2002;86:574-579.
    • (2002) Br J Cancer , vol.86 , pp. 574-579
    • Deng, G.1    Peng, E.2    Gum, J.3    Terdiman, J.4    Sleisenger, M.5    Kim, Y.S.6
  • 26
    • 0033135049 scopus 로고    scopus 로고
    • Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression
    • Deng G, Chen A, Hong J, Chae HS, Kim YS. Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res. 1999;59:2029-2033.
    • (1999) Cancer Res , vol.59 , pp. 2029-2033
    • Deng, G.1    Chen, A.2    Hong, J.3    Chae, H.S.4    Kim, Y.S.5
  • 27
    • 1542713412 scopus 로고    scopus 로고
    • BRAF gene is not mutated in mismatch repair-proficient or -deficient plasma cell dyscrasias
    • Velangi M, Matheson E, Taylor P, Jackson G, Hall AG, Irving JA. BRAF gene is not mutated in mismatch repair-proficient or -deficient plasma cell dyscrasias. Leukemia. 2004;18:658-659.
    • (2004) Leukemia , vol.18 , pp. 658-659
    • Velangi, M.1    Matheson, E.2    Taylor, P.3    Jackson, G.4    Hall, A.G.5    Irving, J.A.6
  • 28
    • 0141593677 scopus 로고    scopus 로고
    • BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair
    • Wang L, Cunningham JM, Winters JL, et al. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res. 2003;63:5209-5212.
    • (2003) Cancer Res , vol.63 , pp. 5209-5212
    • Wang, L.1    Cunningham, J.M.2    Winters, J.L.3
  • 29
    • 0036224279 scopus 로고    scopus 로고
    • Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability
    • Jass JR, Walsh MD, Barker M, Simms LA, Young J, Leggett BA. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Eur J Cancer. 2002;38:858-866.
    • (2002) Eur J Cancer , vol.38 , pp. 858-866
    • Jass, J.R.1    Walsh, M.D.2    Barker, M.3    Simms, L.A.4    Young, J.5    Leggett, B.A.6
  • 30
    • 0034495161 scopus 로고    scopus 로고
    • Genetic and epigenetic modification of MLH1
    • Perucho M. Genetic and epigenetic modification of MLH1. Am J Pathol. 2000;157:1052-1053.
    • (2000) Am J Pathol , vol.157 , pp. 1052-1053
    • Perucho, M.1
  • 31
    • 0033847512 scopus 로고    scopus 로고
    • Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers
    • Kuismanen SA, Holmberg MT, Salovaara R, de la Chapelle A, Peltomaki P. Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol. 2000;156:1773-1779.
    • (2000) Am J Pathol , vol.156 , pp. 1773-1779
    • Kuismanen, S.A.1    Holmberg, M.T.2    Salovaara, R.3    De La Chapelle, A.4    Peltomaki, P.5
  • 32
    • 0031017268 scopus 로고    scopus 로고
    • Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines
    • Kane MF, Loda M, Gaida GM, et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 1997;57:808-811.
    • (1997) Cancer Res , vol.57 , pp. 808-811
    • Kane, M.F.1    Loda, M.2    Gaida, G.M.3
  • 33
    • 13144307115 scopus 로고    scopus 로고
    • Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers
    • Veigl ML, Kasturi L, Olechnowicz J, et al. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci USA. 1998;95:8698-8702.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8698-8702
    • Veigl, M.L.1    Kasturi, L.2    Olechnowicz, J.3
  • 34
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    • Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348:791-799.
    • (2003) N Engl J Med , vol.348 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3
  • 35
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    • Sampson JK, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003;362:39-41.
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, J.K.1    Dolwani, S.2    Jones, S.3
  • 36
    • 0034681117 scopus 로고    scopus 로고
    • Distinct genetic profiles in colorectal tumors with or without the CpG island methylator phenotype
    • Toyota M, Ohe-Toyota M, Ahuja N, Issa JP. Distinct genetic profiles in colorectal tumors with or without the CpG island methylator phenotype. Proc Natl Acad Sci USA. 2000;97: 710-715.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 710-715
    • Toyota, M.1    Ohe-Toyota, M.2    Ahuja, N.3    Issa, J.P.4
  • 37
    • 0032739329 scopus 로고    scopus 로고
    • CpG island methylator phenotypes in aging and cancer
    • Toyota M, Issa JP. CpG island methylator phenotypes in aging and cancer. Semin Cancer Biol. 1999;9:349-357.
    • (1999) Semin Cancer Biol , vol.9 , pp. 349-357
    • Toyota, M.1    Issa, J.P.2
  • 39
    • 0034015438 scopus 로고    scopus 로고
    • CpG-island methylation in aging and cancer
    • Issa IP. CpG-island methylation in aging and cancer. Curr Top Microbiol Immunol. 2000;249:101-118.
    • (2000) Curr Top Microbiol Immunol , vol.249 , pp. 101-118
    • Issa, I.P.1
  • 40
    • 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, et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res. 2004;10:191-195.
    • (2004) Clin Cancer Res , vol.10 , pp. 191-195
    • Deng, G.1    Bell, I.2    Crawley, S.3
  • 41
    • 2942514668 scopus 로고    scopus 로고
    • Both BRAF and KRAS mutations are rare in colorectal carcinomas from patients with hereditary nonpolyposis colorectal cancer
    • Miyaki M, Iijima T, Yamaguchi T, Kadofuku T, Funata N, Mori T. Both BRAF and KRAS mutations are rare in colorectal carcinomas from patients with hereditary nonpolyposis colorectal cancer. Cancer Lett. 2004;211:105-109.
    • (2004) Cancer Lett , vol.211 , pp. 105-109
    • Miyaki, M.1    Iijima, T.2    Yamaguchi, T.3    Kadofuku, T.4    Funata, N.5    Mori, T.6
  • 42
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A, Boland CK, Terdiman JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261-268.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.K.2    Terdiman, J.P.3
  • 43
    • 2342504508 scopus 로고    scopus 로고
    • Frequent inactivation of PTEN by promoter hypermethylation in microsatellite instability-high sporadic colorectal cancers
    • Goel A, Arnold CN, Niedzwiecki D, et al. Frequent inactivation of PTEN by promoter hypermethylation in microsatellite instability-high sporadic colorectal cancers. Cancer Res. 2004;64:3014-3021.
    • (2004) Cancer Res , vol.64 , pp. 3014-3021
    • Goel, A.1    Arnold, C.N.2    Niedzwiecki, D.3


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