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Volumn 1, Issue 2, 2001, Pages 93-99

Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer

Author keywords

Colorectal cancer; DNA mismatch repair; Familial cancer; Hereditary cancer; Microsatellite instability

Indexed keywords

ADULT; AGED; ALTERNATIVE RNA SPLICING; ARTICLE; BASE MISPAIRING; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; COLORECTAL CANCER; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; MALE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MULTIGENE FAMILY; PHENOTYPE; PRIORITY JOURNAL; TANDEM REPEAT;

EID: 6444245379     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (28)

References (36)
  • 1
    • 0032555020 scopus 로고    scopus 로고
    • Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
    • 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
  • 2
    • 2942569549 scopus 로고    scopus 로고
    • Analysis of mismatch repair gene in hereditary non polyposis colorectal cancer patients
    • Liu B, Parsons R, Papadopoulos N et al. Analysis of mismatch repair gene in hereditary non polyposis colorectal cancer patients. Nat Med 1996; 2: 169-74.
    • (1996) Nat Med , vol.2 , pp. 169-174
    • Liu, B.1    Parsons, R.2    Papadopoulos, N.3
  • 3
    • 0345050350 scopus 로고    scopus 로고
    • DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
    • Nyström-Lahti M, Wu Y, Moisio et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 1996; 38: 763-76
    • (1996) Hum Mol Genet , vol.38 , pp. 763-776
    • Nyström-Lahti, M.1    Wu, Y.2    Moisio3
  • 4
    • 0031023545 scopus 로고    scopus 로고
    • Characterization of MSH2 and MLH1 mutations in Italian families with hereditary non-polyposis colorectal cancer
    • Viel A, Genuardi M, Capozzi E et al. Characterization of MSH2 and MLH1 mutations in Italian families with hereditary non-polyposis colorectal cancer. Genes Chromosom Cancer 1997; 18: 8-18.
    • (1997) Genes Chromosom Cancer , vol.18 , pp. 8-18
    • Viel, A.1    Genuardi, M.2    Capozzi, E.3
  • 5
    • 15444355648 scopus 로고    scopus 로고
    • Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 eastern United States hereditary nonpolyposis colorectal cancer pedigrees
    • Weber TK, Conlon W, Petrelli NJ et al. Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 1997; 57: 3798-803.
    • (1997) Cancer Res , vol.57 , pp. 3798-3803
    • Weber, T.K.1    Conlon, W.2    Petrelli, N.J.3
  • 6
    • 0027158031 scopus 로고
    • Clues to the pathogenesis of familial colorectal cancer
    • Aaltonen LA, Peltomäki P, Leach FS et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260: 812-6.
    • (1993) Science , vol.260 , pp. 812-816
    • Aaltonen, L.A.1    Peltomäki, P.2    Leach, F.S.3
  • 7
    • 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 et al. 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 Res 1998; 58: 5248-57.
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3
  • 8
    • 0034677493 scopus 로고    scopus 로고
    • Conversion of diploidy to haploidy
    • Yan H, Papadopoulos N, Marra G et al. Conversion of diploidy to haploidy. Nature 2000; 403: 723-4.
    • (2000) Nature , vol.403 , pp. 723-724
    • Yan, H.1    Papadopoulos, N.2    Marra, G.3
  • 9
    • 16944364360 scopus 로고    scopus 로고
    • Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations
    • Wijnen J, Khan PM, Vasen H et al. Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet 1997; 61: 329-35.
    • (1997) Am J Hum Genet , vol.61 , pp. 329-335
    • Wijnen, J.1    Khan, P.M.2    Vasen, H.3
  • 10
    • 0031916753 scopus 로고    scopus 로고
    • MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer
    • Genuardi M, Anti M, Capozzi E et al. MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. Int J Cancer 1998; 75: 835-9.
    • (1998) Int J Cancer , vol.75 , pp. 835-839
    • Genuardi, M.1    Anti, M.2    Capozzi, E.3
  • 11
    • 0034948352 scopus 로고    scopus 로고
    • Familial microsatellite-stable non-polyposis colorectal cancer: Incidence and characteristics in a clinic-based population
    • Rovella V, Carrara S, Cogliandolo S et al. Familial microsatellite-stable non-polyposis colorectal cancer: Incidence and characteristics in a clinic-based population. Ann Oncol 2000; 12: 813-8.
    • (2000) Ann Oncol , vol.12 , pp. 813-818
    • Rovella, V.1    Carrara, S.2    Cogliandolo, S.3
  • 12
    • 0032749569 scopus 로고    scopus 로고
    • Germline msh6 mutations in colorectal cancer families
    • Kolodner RD, Tytell JD, Schmeits JL et al. Germline msh6 mutations in colorectal cancer families. Cancer Res 1999; 59: 5068-74.
    • (1999) Cancer Res , vol.59 , pp. 5068-5074
    • Kolodner, R.D.1    Tytell, J.D.2    Schmeits, J.L.3
  • 13
    • 0032830214 scopus 로고    scopus 로고
    • Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer
    • Verma L, Kane MF, Brassett C et al. Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer. J Med Genet 1999; 36: 678-82.
    • (1999) J Med Genet , vol.36 , pp. 678-682
    • Verma, L.1    Kane, M.F.2    Brassett, C.3
  • 14
    • 0001628596 scopus 로고    scopus 로고
    • Familial endometrial cancer in female carriers of MSH6 germline mutations
    • Wijnen J, de Leeuw W, Vasen H et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999; 23: 142-4.
    • (1999) Nat Genet , vol.23 , pp. 142-144
    • Wijnen, J.1    De Leeuw, W.2    Vasen, H.3
  • 15
    • 0033361894 scopus 로고    scopus 로고
    • Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations
    • Wu Y, Berends MJW, Mensink GJ et al. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 1999; 65: 1291-8.
    • (1999) Am J Hum Genet , vol.65 , pp. 1291-1298
    • Wu, Y.1    Berends, M.J.W.2    Mensink, G.J.3
  • 16
    • 0033971669 scopus 로고    scopus 로고
    • Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
    • Plaschke J, Kruppa C, Tischler R et al. Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer. Int J Cancer 2000; 85: 606-13.
    • (2000) Int J Cancer , vol.85 , pp. 606-613
    • Plaschke, J.1    Kruppa, C.2    Tischler, R.3
  • 17
    • 0029070143 scopus 로고
    • Mismatch recognition by an hMSH2-GTBP heterodimer and differential repair defects in tumor cells
    • Drummond JT, Li GM, Longley MJ, Modrich P. Mismatch recognition by an hMSH2-GTBP heterodimer and differential repair defects in tumor cells. Science 1995; 268: 1909-12.
    • (1995) Science , vol.268 , pp. 1909-1912
    • Drummond, J.T.1    Li, G.M.2    Longley, M.J.3    Modrich, P.4
  • 18
    • 0029870366 scopus 로고    scopus 로고
    • Requirement of the yeast MSH3 and MSH6 genes for MSH2-dependent genomic stability
    • Johnson RE, Kovvali GK, Prakash L, Prakash S. Requirement of the yeast MSH3 and MSH6 genes for MSH2-dependent genomic stability. J Biol Chem 1996; 271: 7285-8.
    • (1996) J Biol Chem , vol.271 , pp. 7285-7288
    • Johnson, R.E.1    Kovvali, G.K.2    Prakash, L.3    Prakash, S.4
  • 19
    • 0029868110 scopus 로고    scopus 로고
    • Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair
    • Marsischky GT, Filosi N, Kane MF, Kolodner R. Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair. Genes Dev 1996; 10: 407-20.
    • (1996) Genes Dev , vol.10 , pp. 407-420
    • Marsischky, G.T.1    Filosi, N.2    Kane, M.F.3    Kolodner, R.4
  • 20
    • 0030709433 scopus 로고    scopus 로고
    • Mutation in the mismatch repair gene Msh6 causes cancer susceptibility
    • Edelmann W, Yang K, Umar A et al. Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell 1997; 91: 467-77.
    • (1997) Cell , vol.91 , pp. 467-477
    • Edelmann, W.1    Yang, K.2    Umar, A.3
  • 21
    • 0030870631 scopus 로고    scopus 로고
    • Germ line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred
    • Akiyama Y, Sato H, Yamada T et al. Germ line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997; 57: 3920-3.
    • (1997) Cancer Res , vol.57 , pp. 3920-3923
    • Akiyama, Y.1    Sato, H.2    Yamada, T.3
  • 22
    • 0031278322 scopus 로고    scopus 로고
    • Germ-line mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
    • Miyaki M, Konishi M, Kikuchi-Yanoshita R et al. Germ-line mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997; 17: 271-2.
    • (1997) Nat Genet , vol.17 , pp. 271-272
    • Miyaki, M.1    Konishi, M.2    Kikuchi-Yanoshita, R.3
  • 23
    • 0032870177 scopus 로고    scopus 로고
    • hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from Southern Sweden
    • Planck M, Koul A, Fernebro E et al. hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from Southern Sweden. Int J Cancer 1999; 83: 197-202.
    • (1999) Int J Cancer , vol.83 , pp. 197-202
    • Planck, M.1    Koul, A.2    Fernebro, E.3
  • 24
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • Vasen HFA, Mecklin JP, Kahn PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991; 34: 424-5.
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.A.1    Mecklin, J.P.2    Kahn, P.M.3    Lynch, H.T.4
  • 25
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC. Lynch syndrome) proposed by the International Collaborative Group on HNPCC
    • Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC. Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterol 1999; 116: 1453-6.
    • (1999) Gastroenterol , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 26
    • 0032537849 scopus 로고    scopus 로고
    • Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability
    • Percesepe A, Kristo P, Aaltonen LA et al. Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability. Oncogene 1998; 17: 157-63.
    • (1998) Oncogene , vol.17 , pp. 157-163
    • Percesepe, A.1    Kristo, P.2    Aaltonen, L.A.3
  • 27
    • 0029066689 scopus 로고
    • Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability
    • Markowitz S, Wang J, Myeroff L et al. Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science 1995; 268: 1336-8.
    • (1995) Science , vol.268 , pp. 1336-1338
    • Markowitz, S.1    Wang, J.2    Myeroff, L.3
  • 28
    • 0029994532 scopus 로고    scopus 로고
    • Somatic microsatellite mutations as molecular clocks
    • Shibata D, Navidi W, Salovaara et al. Somatic microsatellite mutations as molecular clocks. Nat Med 1996; 2: 676-81.
    • (1996) Nat Med , vol.2 , pp. 676-681
    • Shibata, D.1    Navidi, W.2    Salovaara3
  • 30
    • 16944361874 scopus 로고    scopus 로고
    • Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas
    • Yin J, Komg D, Wang S et al. Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas. Hum Mutat 1997; 10: 474-8.
    • (1997) Hum Mutat , vol.10 , pp. 474-478
    • Yin, J.1    Komg, D.2    Wang, S.3
  • 31
    • 0032032682 scopus 로고    scopus 로고
    • Somatic frameshift mutations in DNA mismatch repair and proapoptosis genes in hereditary nonpolyposis colorectal cancer
    • Yamamoto H, Sawai H, Weber TK et al. Somatic frameshift mutations in DNA mismatch repair and proapoptosis genes in hereditary nonpolyposis colorectal cancer. Cancer Res 1998; 58: 997-1003.
    • (1998) Cancer Res , vol.58 , pp. 997-1003
    • Yamamoto, H.1    Sawai, H.2    Weber, T.K.3
  • 32
    • 0033581835 scopus 로고    scopus 로고
    • Variable mutation frequencies in coding repeats of TCF-4 and other target genes in colon, gastric and endometrial carcinoma showing microsatellite instability
    • Duval A, Iacopetta B, Ranzani GN et al. Variable mutation frequencies in coding repeats of TCF-4 and other target genes in colon, gastric and endometrial carcinoma showing microsatellite instability. Oncogene 1999; 18: 6806-9.
    • (1999) Oncogene , vol.18 , pp. 6806-6809
    • Duval, A.1    Iacopetta, B.2    Ranzani, G.N.3
  • 33
    • 0029793062 scopus 로고    scopus 로고
    • Genomic structure of the transforming growth factor β type II receptor gene and its mutations in hereditary nonpolyposis colorectal cancers
    • Lu SL, Zhang WC, Akiyama Y et al. Genomic structure of the transforming growth factor β type II receptor gene and its mutations in hereditary nonpolyposis colorectal cancers. Cancer Res 1996; 56: 4595-8.
    • (1996) Cancer Res , vol.56 , pp. 4595-4598
    • Lu, S.L.1    Zhang, W.C.2    Akiyama, Y.3
  • 34
    • 0000151696 scopus 로고    scopus 로고
    • Hereditary non-polyposis colorectal cancer: An approach to the selection of candidates to genetic testing based on clinical and molecular characteristics
    • Viel A, Genuardi M, Lucci-Cordisco E et al. Hereditary non-polyposis colorectal cancer: An approach to the selection of candidates to genetic testing based on clinical and molecular characteristics. Community Genet 1998; 1: 229-36.
    • (1998) Community Genet , vol.1 , pp. 229-236
    • Viel, A.1    Genuardi, M.2    Lucci-Cordisco, E.3
  • 35
    • 0032552239 scopus 로고    scopus 로고
    • Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
    • Wijnen JT, Vasen HF, Khan PM et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998; 20: 511-8.
    • (1998) N Engl J Med , vol.20 , pp. 511-518
    • Wijnen, J.T.1    Vasen, H.F.2    Khan, P.M.3
  • 36
    • 0033055150 scopus 로고    scopus 로고
    • Microsatellite instability a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: A study in different groups of patients with colorectal cancer
    • Lamberti C, Kruse R, Ruelfs C et al. Microsatellite instability a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: A study in different groups of patients with colorectal cancer. Gut 1999; 44: 839-43.
    • (1999) Gut , vol.44 , pp. 839-843
    • Lamberti, C.1    Kruse, R.2    Ruelfs, C.3


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