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Volumn 69, Issue 1, 2006, Pages 40-47

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)

(42)  Kurzawski, Grzegorz a   Suchy, J a   Lener, M a   Klujszo Grabowska E a   Kladny J a   Safranow, K a   Jakubowska, K a   Jakubowska, A a   Huzarski, T a   Byrski, T a   Debniak, T a   Cybulski, C a   Gronwald, J a   Oszurek, O a   Oszutowska, D a   Kowalska, E a   Gozdz S b   Niepsuj, S c   Slomski R d   Plawski A d   more..


Author keywords

HNPCC; MLH1 MSH2; MLPA; Mutationanalysis; Poland

Indexed keywords

ALANINE; PROTEIN MLH1; PROTEIN MSH2; THREONINE;

EID: 33644872239     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00550.x     Document Type: Article
Times cited : (33)

References (32)
  • 1
    • 0032730774 scopus 로고    scopus 로고
    • Genetic susceptibility to non-polyposis colorectal cancer
    • Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999: 36: 801-818.
    • (1999) J Med Genet , vol.36 , pp. 801-818
    • Lynch, H.T.1    de la Chapelle, A.2
  • 2
    • 0028350601 scopus 로고
    • Mutation of a mutL homolog in hereditary colon cancer
    • Papadopoulos N, Nicolaides NC, Wei YF. Mutation of a mutL homolog in hereditary colon cancer. Science 1994: 263: 1625-1629.
    • (1994) Science , vol.263 , pp. 1625-1629
    • Papadopoulos, N.1    Nicolaides, N.C.2    Wei, Y.F.3
  • 3
    • 0027145633 scopus 로고
    • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
    • Leach FS, Nicolaides NC, Papadopoulos N et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993: 75: 1215-1225.
    • (1993) Cell , vol.75 , pp. 1215-1225
    • Leach, F.S.1    Nicolaides, N.C.2    Papadopoulos, N.3
  • 4
    • 0030870631 scopus 로고    scopus 로고
    • Germ-line mutation of the hMSH6/GTBP gene in anatypical hereditary nonpolyposis colorectal cancer kindred
    • Akiyama Y, Sato H, Yamada T et al. Germ-line mutation of the hMSH6/GTBP gene in anatypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997: 57: 3920-3923.
    • (1997) Cancer Res , vol.57 , pp. 3920-3923
    • Akiyama, Y.1    Sato, H.2    Yamada, T.3
  • 5
    • 0027933070 scopus 로고
    • Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
    • Nicolaides NC, Papadopoulos N, Liu B et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994: 371: 75-80.
    • (1994) Nature , vol.371 , pp. 75-80
    • Nicolaides, N.C.1    Papadopoulos, N.2    Liu, B.3
  • 6
    • 0037447157 scopus 로고    scopus 로고
    • The role of hMLH3 in familial colorectal cancer
    • Liu HX, Zhou XL, Liu T et al. The role of hMLH3 in familial colorectal cancer. Cancer Res 2003: 63: 1894-1899.
    • (2003) Cancer Res , vol.63 , pp. 1894-1899
    • Liu, H.X.1    Zhou, X.L.2    Liu, T.3
  • 7
    • 0035503698 scopus 로고    scopus 로고
    • The role of hPMS1 and hPMS2 in predisposing to colorectal cancer
    • Liu T, Yan H, Kuismanen S et al. The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. Cancer Res 2001: 61: 7798-7802.
    • (2001) Cancer Res , vol.61 , pp. 7798-7802
    • Liu, T.1    Yan, H.2    Kuismanen, S.3
  • 8
    • 3042791562 scopus 로고    scopus 로고
    • ATM-mediated stabilization of hMutL DNA mismatch repair proteins augments p53 activation during DNA damage
    • Luo Y, Lin FT, Lin WC. ATM-mediated stabilization of hMutL DNA mismatch repair proteins augments p53 activation during DNA damage. Mol Cell Biol 2004: 24: 6430-6444.
    • (2004) Mol Cell Biol , vol.24 , pp. 6430-6444
    • Luo, Y.1    Lin, F.T.2    Lin, W.C.3
  • 9
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/ INSiGHT mutation database
    • Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004: 20: 269-276.
    • (2004) Dis Markers , vol.20 , pp. 269-276
    • Peltomaki, P.1    Vasen, H.2
  • 10
    • 0031795020 scopus 로고    scopus 로고
    • HMSH2 genomic deletions are a frequent cause of HNPCC
    • Wijnen J, van der Klift H, Vasen H et al. HMSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 1998: 20: 326-328.
    • (1998) Nat Genet , vol.20 , pp. 326-328
    • Wijnen, J.1    van der Klift, H.2    Vasen, H.3
  • 11
    • 0028845693 scopus 로고
    • Founding mutations and Alu-mediated recombination in hereditary colon cancer
    • Nystrom-Lahti M, Kristo P, Nicolaides NC et al. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1995: 1: 1203-1206.
    • (1995) Nat Med , vol.1 , pp. 1203-1206
    • Nystrom-Lahti, M.1    Kristo, P.2    Nicolaides, N.C.3
  • 12
    • 18644386133 scopus 로고    scopus 로고
    • Genomic deletions of HMSH2 and HMLH1 in colorectal cancer families detected by a novel mutation detection approach
    • Gille JJ, Hogervorst FB, Pals G et al. Genomic deletions of HMSH2 and HMLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer 2002: 87: 892-897.
    • (2002) Br J Cancer , vol.87 , pp. 892-897
    • Gille, J.J.1    Hogervorst, F.B.2    Pals, G.3
  • 13
    • 0037730214 scopus 로고    scopus 로고
    • Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the HMSH2 gene
    • Wagner A, Barrows A, Wijnen JT et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the HMSH2 gene. Am J Hum Genet 2003: 72: 1088-1100.
    • (2003) Am J Hum Genet , vol.72 , pp. 1088-1100
    • Wagner, A.1    Barrows, A.2    Wijnen, J.T.3
  • 14
    • 0346363771 scopus 로고    scopus 로고
    • Genomic deletions in HMSH2 or HMLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA
    • Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic deletions in HMSH2 or HMLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA. Hum Mutat 2003: 22: 428-433.
    • (2003) Hum Mutat , vol.22 , pp. 428-433
    • Taylor, C.F.1    Charlton, R.S.2    Burn, J.3    Sheridan, E.4    Taylor, G.R.5
  • 15
    • 5044227573 scopus 로고    scopus 로고
    • Dosage analysis of cancer predisposition genes by multiplex ligation- dependent probe amplification
    • Bunyan DJ, Eccles DM, Sillibourne J et al. Dosage analysis of cancer predisposition genes by multiplex ligation- dependent probe amplification. Br J Cancer 2004: 91: 1155-1159.
    • (2004) Br J Cancer , vol.91 , pp. 1155-1159
    • Bunyan, D.J.1    Eccles, D.M.2    Sillibourne, J.3
  • 16
    • 9144273165 scopus 로고    scopus 로고
    • Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC
    • Di Fiore F, Charbonnier F, Martin C et al. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. J Med Genet 2004: 41: 18-20.
    • (2004) J Med Genet , vol.41 , pp. 18-20
    • Di Fiore, F.1    Charbonnier, F.2    Martin, C.3
  • 17
    • 0345050350 scopus 로고    scopus 로고
    • DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
    • Nystrom-Lahti M, Wu Y, Moisio AL et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 1996: 5: 763-769.
    • (1996) Hum Mol Genet , vol.5 , pp. 763-769
    • Nystrom-Lahti, M.1    Wu, Y.2    Moisio, A.L.3
  • 18
    • 0033039550 scopus 로고    scopus 로고
    • A common HMSH2 mutation in English and North American HNPCC families: Origin, phenotypic expression, and sex specific differences in colorectal cancer
    • Froggatt NJ, Green J, Brassett C et al. A common HMSH2 mutation in English and North American HNPCC families: Origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 1999: 36: 97-102.
    • (1999) J Med Genet , vol.36 , pp. 97-102
    • Froggatt, N.J.1    Green, J.2    Brassett, C.3
  • 19
    • 0030747145 scopus 로고    scopus 로고
    • Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hHMLH1 expression
    • Jager AC, Bisgaard ML, Myrhoj T, Bernstein I, Rehfeld JF, Nielsen FC. Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hHMLH1 expression. Am J Hum Genet 1997: 61: 129-138.
    • (1997) Am J Hum Genet , vol.61 , pp. 129-138
    • Jager, A.C.1    Bisgaard, M.L.2    Myrhoj, T.3    Bernstein, I.4    Rehfeld, J.F.5    Nielsen, F.C.6
  • 20
    • 0036917758 scopus 로고    scopus 로고
    • The founder mutation HMSH2*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
    • Foulkes WD, Thiffault I, Gruber SB et al. The founder mutation HMSH2*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet 2002: 71: 1395-1412.
    • (2002) Am J Hum Genet , vol.71 , pp. 1395-1412
    • Foulkes, W.D.1    Thiffault, I.2    Gruber, S.B.3
  • 21
    • 0142124795 scopus 로고    scopus 로고
    • Identification and characterization of genomic rearrangements of HMSH2 and HMLH1 in Lynch syndrome (HNPCC) by novel techniques
    • Nakagawa H, Hampel H, de la Chapelle A. Identification and characterization of genomic rearrangements of HMSH2 and HMLH1 in Lynch syndrome (HNPCC) by novel techniques. Hum Mutat 2003: 22: 258.
    • (2003) Hum Mutat , vol.22 , pp. 258
    • Nakagawa, H.1    Hampel, H.2    de la Chapelle, A.3
  • 22
    • 16644371627 scopus 로고    scopus 로고
    • Germline mutations in HMLH1, HMSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families
    • Shin YK, Heo SC, Shin JH et al. Germline mutations in HMLH1, HMSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. Hum Mutat 2004: 24: 351.
    • (2004) Hum Mutat , vol.24 , pp. 351
    • Shin, Y.K.1    Heo, S.C.2    Shin, J.H.3
  • 23
    • 0005113978 scopus 로고    scopus 로고
    • Germline HMSH2 and HMLH1 mutational spectrum in HNPCC families from Poland and the Baltic States
    • Kurzawski G, Suchy J, Kladny J et al. Germline HMSH2 and HMLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. J Med Genet 2002: 39: E65.
    • (2002) J Med Genet , vol.39
    • Kurzawski, G.1    Suchy, J.2    Kladny, J.3
  • 25
    • 0027515695 scopus 로고
    • DNA isolation by rapid methods from human blood samples: Effects of MgCl 2, EDTA, storage time, and temperature on DNA yield and quality
    • Lahiri DK, Schnabel B. DNA isolation by rapid methods from human blood samples: Effects of MgCl 2, EDTA, storage time, and temperature on DNA yield and quality. Biochem Genet 1993: 31: 321-328.
    • (1993) Biochem Genet , vol.31 , pp. 321-328
    • Lahiri, D.K.1    Schnabel, B.2
  • 27
    • 0028833856 scopus 로고
    • Structure of the human HMLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for hMLH1 mutations
    • Kolodner R, Hall NR, Lipford J et al. Structure of the human HMLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for hMLH1 mutations. Cancer Res 1995: 55: 242-248.
    • (1995) Cancer Res , vol.55 , pp. 242-248
    • Kolodner, R.1    Hall, N.R.2    Lipford, J.3
  • 28
    • 0028955451 scopus 로고
    • Seven new mutations in hHMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis
    • Wijnen J, Vasen H, Khan PM et al. Seven new mutations in hHMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am J Hum Genet 1995: 56: 1060-1066.
    • (1995) Am J Hum Genet , vol.56 , pp. 1060-1066
    • Wijnen, J.1    Vasen, H.2    Khan, P.M.3
  • 30
    • 33644862758 scopus 로고    scopus 로고
    • CpG dinucleotides in the hHMSH2 and hHMLH1 genes
    • Maliaka YK, Chudina AP, Belev NF et al. CpG dinucleotides in the hHMSH2 and hHMLH1 genes. Hum Genet 1996: 97: 251255.
    • (1996) Hum Genet , vol.97 , pp. 251255
    • Maliaka, Y.K.1    Chudina, A.P.2    Belev, N.F.3
  • 31
    • 0037389344 scopus 로고    scopus 로고
    • Novel HMLH1 and HMSH2 germline mutations in the first HNPCC families identified in Slovakia
    • Bartosova Z, Fridrichova I, Bujalkova M et al. Novel HMLH1 and HMSH2 germline mutations in the first HNPCC families identified in Slovakia. Hum Mutat 2003: 21: 449.
    • (2003) Hum Mutat , vol.21 , pp. 449
    • Bartosova, Z.1    Fridrichova, I.2    Bujalkova, M.3
  • 32
    • 0031771913 scopus 로고    scopus 로고
    • Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer
    • Hutter P, Couturier A, Membrez V et al. Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. Int J Cancer 1998: 78: 680-684.
    • (1998) Int J Cancer , vol.78 , pp. 680-684
    • Hutter, P.1    Couturier, A.2    Membrez, V.3


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