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Volumn 8, Issue 4, 2009, Pages 421-429

Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: Implications for a population specific detection strategy of Lynch syndrome

Author keywords

Detection strategy; Lynch syndrome; Microsatellite instability; Mismatch repair genes; Mononucleotide microsatellite markers

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; TUMOR MARKER;

EID: 70449521186     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9258-4     Document Type: Article
Times cited : (25)

References (35)
  • 1
    • 33646918038 scopus 로고    scopus 로고
    • The genetics of HNPCC: Application to diagnosis and screening
    • DOI 10.1016/j.critrevonc.2005.11.001, PII S1040842805002258
    • WM Abdel-Rahman JP Mecklin P Peltomaki 2006 The genetics of HNPCC: application to diagnosis and screening Crit Rev Oncol Hematol 58 208 220 10.1016/j.critrevonc.2005.11.001 10.1016/j.critrevonc.2005.11.001 16434208 (Pubitemid 43796078)
    • (2006) Critical Reviews in Oncology/Hematology , vol.58 , Issue.3 , pp. 208-220
    • Abdel-Rahman, W.M.1    Mecklin, J.-P.2    Peltomaki, P.3
  • 2
    • 0035161440 scopus 로고    scopus 로고
    • Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing
    • 10.1053/gast.2001.20874 10.1053/gast.2001.20874 1:CAS:528: DC%2BD3MXoslCrug%3D%3D 11208710
    • JP Terdiman JR Gum Jr PG Conrad, et al. 2001 Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing Gastroenterology 120 21 30 10.1053/gast.2001.20874 10.1053/gast.2001.20874 1:CAS:528: DC%2BD3MXoslCrug%3D%3D 11208710
    • (2001) Gastroenterology , vol.120 , pp. 21-30
    • Terdiman, J.P.1    Gum Jr, J.R.2    Conrad, P.G.3
  • 3
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition update of ICG-HNPCC/INSiGHT mutation database
    • 15528792
    • P Peltomaki H Vasen 2004 Mutations associated with HNPCC predisposition update of ICG-HNPCC/INSiGHT mutation database Dis Markers 20 269 276 15528792
    • (2004) Dis Markers , vol.20 , pp. 269-276
    • Peltomaki, P.1    Vasen, H.2
  • 4
    • 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
    • 1:CAS:528:DyaK1cXnsFSmtbk%3D 9823339
    • CR Boland SN Thibodeau SR Hamilton, et al. 1998 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 58 5248 5257 1:CAS:528:DyaK1cXnsFSmtbk%3D 9823339
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3
  • 5
    • 0027285475 scopus 로고
    • Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
    • DOI 10.1038/363558a0
    • Y Ionov MA Peinado S Malkhosyan, et al. 1993 Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis Nature 363 558 561 10.1038/363558a0 10.1038/363558a0 1:CAS:528: DyaK3sXks12hu7c%3D 8505985 (Pubitemid 23186645)
    • (1993) Nature , vol.363 , Issue.6429 , pp. 558-561
    • Ionov, Y.1    Peinado, M.A.2    Malkhosyan, S.3    Shibata, D.4    Perucho, M.5
  • 7
    • 17144441735 scopus 로고    scopus 로고
    • Causes of microsatellite instability in colorectal tumors: Implications for hereditary non-polyposis colorectal cancer screening
    • DOI 10.1016/S0165-4608(00)00399-X
    • U Potocnik D Glavac R Golouh, et al. 2001 Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening Cancer Genet Cytogenet 126 85 96 10.1016/S0165-4608(00)00399-X 10.1016/S0165-4608(00)00399-X 1:CAS:528: DC%2BD3MXjslSltrw%3D 11376800 (Pubitemid 32453324)
    • (2001) Cancer Genetics and Cytogenetics , vol.126 , Issue.2 , pp. 85-96
    • Potocnik, U.1    Glavac, D.2    Golouh, R.3    Ravnik-Glavac, M.4
  • 8
    • 1042290354 scopus 로고    scopus 로고
    • Testing guidelines for hereditary non-polyposis colorectal cancer
    • 1:CAS:528:DC%2BD2cXhtlaqu70%3D 14964310
    • A Umar JI Risinger ET Hawk, et al. 2004 Testing guidelines for hereditary non-polyposis colorectal cancer Nat Rev Cancer 4 153 158 1:CAS:528: DC%2BD2cXhtlaqu70%3D 14964310
    • (2004) Nat Rev Cancer , vol.4 , pp. 153-158
    • Umar, A.1    Risinger, J.I.2    Hawk, E.T.3
  • 9
    • 0036893598 scopus 로고    scopus 로고
    • Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR
    • DOI 10.1053/gast.2002.37070
    • N Suraweera A Duval M Reperant, et al. 2002 Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR Gastroenterology 123 1804 1811 10.1053/gast.2002.37070 10.1053/gast.2002.37070 1:CAS:528:DC%2BD38Xps1yktb8%3D 12454837 (Pubitemid 35408304)
    • (2002) Gastroenterology , vol.123 , Issue.6 , pp. 1804-1811
    • Suraweera, N.1    Duval, A.2    Reperant, M.3    Vaury, C.4    Furlan, D.5    Leroy, K.6    Seruca, R.7    Iacopetta, B.8    Hamelin, R.9
  • 11
    • 27944482537 scopus 로고    scopus 로고
    • Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain
    • AA de Sanchez A Tosar J Godino, et al. 2005 Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain World J Gastroenterol 11 5770 5776
    • (2005) World J Gastroenterol , vol.11 , pp. 5770-5776
    • De Sanchez, A.A.1    Tosar, A.2    Godino, J.3
  • 13
    • 0033971669 scopus 로고    scopus 로고
    • Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
    • DOI 10.1002/(SICI)1097-0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B
    • J Plaschke C Kruppa R Tischler, et al. 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer Int J Cancer 85 606 613 10.1002/(SICI)1097- 0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B 10.1002/(SICI)1097- 0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B 1:CAS:528:DC%2BD3cXht1aqs78%3D 10699937 (Pubitemid 30080470)
    • (2000) International Journal of Cancer , vol.85 , Issue.5 , pp. 606-613
    • Plaschke, J.1    Kruppa, C.2    Tischler, R.3    Bocker, T.4    Pistorius, S.5    Dralle, H.6    Ruschoff, J.7    Saeger, H.D.8    Fishel, R.9    Schackert, H.K.10
  • 16
    • 33845601309 scopus 로고    scopus 로고
    • Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability
    • DOI 10.1038/sj.bjc.6603478, PII 6603478
    • CM Kets JH Krieken KM Hebeda, et al. 2006 Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability Br J Cancer 95 1678 1682 10.1038/sj.bjc.6603478 10.1038/sj.bjc.6603478 1:CAS:528:DC%2BD28Xht12ktbfO 17117178 (Pubitemid 44950793)
    • (2006) British Journal of Cancer , vol.95 , Issue.12 , pp. 1678-1682
    • Kets, C.M.1    Van Krieken, J.H.J.M.2    Hebeda, K.M.3    Wezenberg, S.J.4    Goossens, M.5    Brunner, H.G.6    Ligtenberg, M.J.L.7    Hoogerbrugge, N.8
  • 17
    • 0035503698 scopus 로고    scopus 로고
    • The role of hPMS1 and hPMS2 in predisposing to colorectal cancer
    • 1:CAS:528:DC%2BD3MXotlakurg%3D 11691795
    • T Liu H Yan S Kuismanen, et al. 2001 The role of hPMS1 and hPMS2 in predisposing to colorectal cancer Cancer Res 61 7798 7802 1:CAS:528: DC%2BD3MXotlakurg%3D 11691795
    • (2001) Cancer Res , vol.61 , pp. 7798-7802
    • Liu, T.1    Yan, H.2    Kuismanen, S.3
  • 21
    • 26944451323 scopus 로고    scopus 로고
    • Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6
    • 1:CAS:528:DC%2BD2MXhtFGqsbjM 16237223
    • M Hegde M Blazo B Chong, et al. 2005 Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6 J Mol Diagn 7 525 534 1:CAS:528:DC%2BD2MXhtFGqsbjM 16237223
    • (2005) J Mol Diagn , vol.7 , pp. 525-534
    • Hegde, M.1    Blazo, M.2    Chong, B.3
  • 22
    • 1242263318 scopus 로고    scopus 로고
    • Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations
    • DOI 10.1111/j.1399-0004.2004.00214.x
    • E Thompson CJ Meldrum R Crooks, et al. 2004 Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations Clin Genet 65 215 225 10.1111/j.1399-0004.2004.00214.x 10.1111/j.1399-0004.2004.00214.x 1:STN:280:DC%2BD2c%2FpsVShsA%3D%3D 14756672 (Pubitemid 38239753)
    • (2004) Clinical Genetics , vol.65 , Issue.3 , pp. 215-225
    • Thompson, E.1    Meldrum, C.J.2    Crooks, R.3    McPhillips, M.4    Thomas, L.5    Spigelman, A.D.6    Scott, R.J.7
  • 25
    • 33847712926 scopus 로고    scopus 로고
    • Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors
    • 10.1093/jnci/djk033 10.1093/jnci/djk033 1:CAS:528:DC%2BD2sXis1ShtbY%3D 17284719
    • RM Xicola X Llor E Pons, et al. 2007 Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors J Natl Cancer Inst 99 244 252 10.1093/jnci/djk033 10.1093/jnci/djk033 1:CAS:528:DC%2BD2sXis1ShtbY%3D 17284719
    • (2007) J Natl Cancer Inst , vol.99 , pp. 244-252
    • Xicola, R.M.1    Llor, X.2    Pons, E.3
  • 27
    • 34249865623 scopus 로고    scopus 로고
    • The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer
    • DOI 10.1007/s00384-006-0228-0
    • J Warusavitarne M Schnitzler 2007 The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer Int J Colorectal Dis 22 739 748 10.1007/s00384-006-0228-0 10.1007/s00384-006-0228-0 17109103 (Pubitemid 46863751)
    • (2007) International Journal of Colorectal Disease , vol.22 , Issue.7 , pp. 739-748
    • Warusavitarne, J.1    Schnitzler, M.2
  • 28
    • 0033916953 scopus 로고    scopus 로고
    • Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population
    • 10.1136/jmg.37.7.533 10.1136/jmg.37.7.533 1:CAS:528:DC%2BD3cXlsFGksbc%3D 10970186
    • M Ravnik-Glavac U Potocnik D Glavac 2000 Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population J Med Genet 37 533 536 10.1136/jmg.37.7.533 10.1136/jmg.37.7.533 1:CAS:528:DC%2BD3cXlsFGksbc%3D 10970186
    • (2000) J Med Genet , vol.37 , pp. 533-536
    • Ravnik-Glavac, M.1    Potocnik, U.2    Glavac, D.3
  • 30
    • 33747891736 scopus 로고    scopus 로고
    • An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
    • DOI 10.1093/hmg/ddl171
    • PJ Smith C Zhang JC Wang 2006 An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers Hum Mol Genet 15 2490 2508 10.1093/hmg/ddl171 10.1093/hmg/ddl171 1:CAS:528:DC%2BD28XotlaisL4%3D 16825284 (Pubitemid 44288702)
    • (2006) Human Molecular Genetics , vol.15 , Issue.16 , pp. 2490-2508
    • Smith, P.J.1    Zhang, C.2    Wang, J.3    Chew, S.L.4    Zhang, M.Q.5    Krainer, A.R.6
  • 31
    • 0242522413 scopus 로고    scopus 로고
    • Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers
    • DOI 10.1086/378819
    • IP Gorlov OY Gorlova ML Frazier, et al. 2003 Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers Am J Hum Genet 73 1157 1161 10.1086/378819 10.1086/378819 1:CAS:528:DC%2BD3sXptVGns7c%3D 14526391 (Pubitemid 37414227)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.5 , pp. 1157-1161
    • Gorlov, I.P.1    Gorlova, O.Y.2    Frazier, M.L.3    Amos, C.I.4
  • 32
    • 0036164386 scopus 로고    scopus 로고
    • Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms
    • DOI 10.1002/humu.10040
    • ZQ Yuan B Gottlieb LK Beitel, et al. 2002 Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms Hum Mutat 19 108 113 10.1002/humu.10040 10.1002/humu.10040 1:CAS:528: DC%2BD38XhsVKrs7c%3D 11793469 (Pubitemid 34121801)
    • (2002) Human Mutation , vol.19 , Issue.2 , pp. 108-113
    • Yuan, Z.Q.1    Gottlieb, B.2    Beitel, L.K.3    Wong, N.4    Gordon, P.H.5    Wang, Q.6    Puisieux, A.7    Foulkes, W.D.8    Trifiro, M.9
  • 33
    • 0029741089 scopus 로고    scopus 로고
    • Frameshift mutator mutations [1]
    • DOI 10.1038/382499a0
    • S Malkhosyan N Rampino H Yamamoto, et al. 1996 Frameshift mutator mutations Nature 382 499 500 10.1038/382499a0 10.1038/382499a0 1:CAS:528:DyaK28XkvFGjsbg%3D 8700220 (Pubitemid 26260679)
    • (1996) Nature , vol.382 , Issue.6591 , pp. 499-500
    • Malkhosyan, S.1    Rampino, N.2    Yamamoto, H.3    Perucho, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.