메뉴 건너뛰기




Volumn 8, Issue 3, 2009, Pages 187-194

Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type i

Author keywords

Ashkenazi; Bi allelic; HNPCC, NF1; MMR; MSH2; MSI

Indexed keywords

BEVACIZUMAB; FLUOROURACIL; FOLINIC ACID; GENOMIC DNA; IRINOTECAN; OXALIPLATIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

EID: 68449100729     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-008-9227-3     Document Type: Article
Times cited : (21)

References (34)
  • 1
    • 0027248156 scopus 로고
    • Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review
    • HT Lynch TC Smyrk P Watson 1993 Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review Gastroenterology 104 1535 1549
    • (1993) Gastroenterology , vol.104 , pp. 1535-1549
    • Lynch, H.T.1    Smyrk, T.C.2    Watson, P.3
  • 4
    • 0033913644 scopus 로고    scopus 로고
    • Molecular genetics of hereditary nonpolyposis colorectal cancer
    • discussion 59-61
    • Boland CR (2000) Molecular genetics of hereditary nonpolyposis colorectal cancer. Ann N Y Acad Sci 910:50-59. discussion 59-61
    • (2000) Ann N y Acad Sci , vol.910 , pp. 50-59
    • Boland, C.R.1
  • 5
    • 2342506542 scopus 로고    scopus 로고
    • Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome
    • DOI 10.1086/420796
    • M De Vos BE Hayward S Picton 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome Am J Hum Genet 74 954 964 10.1086/420796 (Pubitemid 38568968)
    • (2004) American Journal of Human Genetics , vol.74 , Issue.5 , pp. 954-964
    • De Vos, M.1    Hayward, B.E.2    Picton, S.3    Sheridan, E.4    Bonthron, D.T.5
  • 7
    • 0033556009 scopus 로고    scopus 로고
    • Neurofibromatosis and Early Onset of Cancers in hMLH1-deficient Children
    • Q Wang C Lasset F Desseigne 1999 Neurofibromatosis and Early Onset of Cancers in hMLH1-deficient Children Cancer Res 59 294 297
    • (1999) Cancer Res , vol.59 , pp. 294-297
    • Wang, Q.1    Lasset, C.2    Desseigne, F.3
  • 8
    • 16544395180 scopus 로고    scopus 로고
    • A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer
    • DOI 10.1023/B:FAME.0000039893.19289.18
    • FH Menko GL Kaspers GA Meijer 2004 A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer Fam Cancer 3 123 127 10.1023/B:FAME.0000039893.19289.18 (Pubitemid 40645894)
    • (2004) Familial Cancer , vol.3 , Issue.2 , pp. 123-127
    • Menko, F.H.1    Kaspers, G.L.2    Meijer, G.A.3    Claes, K.4    Van Hagen, J.M.5    Gille, J.J.P.6
  • 10
    • 0029101616 scopus 로고
    • Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer
    • 10.1016/0092-8674(95)90319-4
    • N de Wind M Dekker A Berns 1995 Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer Cell 82 321 330 10.1016/0092-8674(95)90319-4
    • (1995) Cell , vol.82 , pp. 321-330
    • De Wind, N.1    Dekker, M.2    Berns, A.3
  • 11
    • 0029111463 scopus 로고
    • MSH2 deficient mice are viable and susceptible to lymphoid tumours
    • 10.1038/ng0995-64
    • AH Reitmair R Schmits A Ewel 1995 MSH2 deficient mice are viable and susceptible to lymphoid tumours Nat Genet 11 64 70 10.1038/ng0995-64
    • (1995) Nat Genet , vol.11 , pp. 64-70
    • Reitmair, A.H.1    Schmits, R.2    Ewel, A.3
  • 12
    • 9444271133 scopus 로고    scopus 로고
    • Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice
    • AH Reitmair M Redston JC Cai 1996 Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice Cancer Res 56 3842 3849
    • (1996) Cancer Res , vol.56 , pp. 3842-3849
    • Reitmair, A.H.1    Redston, M.2    Cai, J.C.3
  • 13
    • 0037325915 scopus 로고    scopus 로고
    • Msh2 deficiency enhances somatic Apc and p53 mutations in Apc ± Msh2-/- mice
    • Sohn KJ, Choi M, Song J et al (2003) Msh2 deficiency enhances somatic Apc and p53 mutations in Apc ± Msh2-/- mice. Carcinogenesis. 24(2):217-224
    • (2003) Carcinogenesis , vol.24 , Issue.2 , pp. 217-224
    • Sohn, K.J.1    Choi, M.2    Song, J.3
  • 14
    • 48549088063 scopus 로고    scopus 로고
    • Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors
    • 10.1158/0008-5472.CAN-08-0019
    • H Feitsma RV Kuiper J Korving 2008 Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors Cancer Res 68 13 5059 5066 10.1158/0008-5472.CAN-08-0019
    • (2008) Cancer Res , vol.68 , Issue.13 , pp. 5059-5066
    • Feitsma, H.1    Kuiper, R.V.2    Korving, J.3
  • 15
    • 0028845693 scopus 로고
    • Founding mutations and Alu-mediated recombination in herediatry colon cancer
    • 10.1038/nm1195-1203
    • M Nystrom-Lahti P Kristo NC Nicolaides 1995 Founding mutations and Alu-mediated recombination in herediatry colon cancer Nat Med 1 1203 1206 10.1038/nm1195-1203
    • (1995) Nat Med , vol.1 , pp. 1203-1206
    • Nystrom-Lahti, M.1    Kristo, P.2    Nicolaides, N.C.3
  • 16
    • 0032862677 scopus 로고    scopus 로고
    • A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: Implications for clinical screening
    • ZQ Yuan N Wong WD Foulkes 1999 A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening J Med Genet 36 790 793
    • (1999) J Med Genet , vol.36 , pp. 790-793
    • Yuan, Z.Q.1    Wong, N.2    Foulkes, W.D.3
  • 18
    • 55949091468 scopus 로고    scopus 로고
    • Mutation spectrum in HNPCC in the Israeli population
    • Apr
    • Goldberg Y, Porat RM, Kedar I et al (2008) Mutation spectrum in HNPCC in the Israeli population. Fam Cancer (Apr):4
    • (2008) Fam Cancer , pp. 4
    • Goldberg, Y.1    Porat, R.M.2    Kedar, I.3
  • 19
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • 10.1007/BF02053699
    • HF Vasen JP Mecklin PM Khan 1991 The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) Dis Colon Rectum 34 424 425 10.1007/BF02053699
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3
  • 20
    • 0029138106 scopus 로고
    • Microwave-based DNA extraction from paraffin-embedded tissue for PCR amplification
    • SK Banjerjee WF Maldisi AP Weston 1995 Microwave-based DNA extraction from paraffin-embedded tissue for PCR amplification Biotechniques 18 5 768 773
    • (1995) Biotechniques , vol.18 , Issue.5 , pp. 768-773
    • Banjerjee, S.K.1    Maldisi, W.F.2    Weston, A.P.3
  • 22
    • 0036790143 scopus 로고    scopus 로고
    • Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign
    • 10.1128/JCM.40.10.3565-3571.2002
    • LI Shlush DM Behar A Zelazny 2002 Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign J Clin Microbiol 40 10 3565 3571 10.1128/JCM.40.10.3565-3571.2002
    • (2002) J Clin Microbiol , vol.40 , Issue.10 , pp. 3565-3571
    • Shlush, L.I.1    Behar, D.M.2    Zelazny, A.3
  • 23
    • 0242266952 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A
    • Bercovich D, Beaudet AL (2003) Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A. Genet Test Fall 7(3):189-194
    • (2003) Genet Test Fall , vol.7 , Issue.3 , pp. 189-194
    • Bercovich, D.1    Beaudet, A.L.2
  • 25
    • 68449098320 scopus 로고    scopus 로고
    • A homozygous germ-line mutation in the human MSH2 gene predisposes to haematological malignancy and multiple
    • D Whiteside R [tmp] McLeod G Graham 2002 A homozygous germ-line mutation in the human MSH2 gene predisposes to haematological malignancy and multiple Cancer Res 62 352 362
    • (2002) Cancer Res , vol.62 , pp. 352-362
    • Whiteside, D.1    McLeod, R.2    Graham, G.3
  • 26
    • 0032734460 scopus 로고    scopus 로고
    • HNPCC syndrome, microsatellite instability and NF1 gene alteration (French)
    • Puisieux A (1999) HNPCC syndrome, microsatellite instability and NF1 gene alteration (French). Bull Cancer Oct Rev 86(10):812-814
    • (1999) Bull Cancer Oct Rev , vol.86 , Issue.10 , pp. 812-814
    • Puisieux, A.1
  • 27
    • 0037315934 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type
    • Q Wang G Montmain E Ruano 2003 Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type Hum Genet 112 117 123
    • (2003) Hum Genet , vol.112 , pp. 117-123
    • Wang, Q.1    Montmain, G.2    Ruano, E.3
  • 29
    • 27644596327 scopus 로고    scopus 로고
    • A homozygous mutation in MSH6 causes Turcot syndrome
    • MR Hegde B Chong ME Blazo 2005 A homozygous mutation in MSH6 causes Turcot syndrome Clin Cancer Res 11 13 4689 4693
    • (2005) Clin Cancer Res , vol.11 , Issue.13 , pp. 4689-4693
    • Hegde, M.R.1    Chong, B.2    Blazo, M.E.3
  • 30
    • 9044245700 scopus 로고    scopus 로고
    • Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues
    • FS Leach K Polyak M Burrell 1996 Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues Cancer Res 56 2 235 240
    • (1996) Cancer Res , vol.56 , Issue.2 , pp. 235-240
    • Leach, F.S.1    Polyak, K.2    Burrell, M.3
  • 31
    • 10344228783 scopus 로고    scopus 로고
    • Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes
    • SN Thibodeau AJ French PC Roche 1996 Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes Cancer Res 56 21 4836 4840
    • (1996) Cancer Res , vol.56 , Issue.21 , pp. 4836-4840
    • Thibodeau, S.N.1    French, A.J.2    Roche, P.C.3
  • 34
    • 34249030956 scopus 로고    scopus 로고
    • Biallelic germline mutations of mismatch-repair genes: A possible cause for multiple pediatric malignancies
    • Rotterdam Initiative on Gastrointestinal Hereditary Tumors
    • Poley JW, Wagner A, Hoogmans MM et al (2007) Rotterdam Initiative on Gastrointestinal Hereditary Tumors. Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer 109(11):234
    • (2007) Cancer , vol.109 , Issue.11 , pp. 234
    • Poley, J.W.1    Wagner, A.2    Hoogmans, M.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.