메뉴 건너뛰기




Volumn 13, Issue 19, 2007, Pages 2727-2732

Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: Implications for genetic testing

Author keywords

Germline mutation; Hereditary non polyposis colorectal cancer; MLH1; MSH2; Rearrangement

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

EID: 34250783569     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v13.i19.2727     Document Type: Article
Times cited : (26)

References (32)
  • 2
    • 4944240144 scopus 로고    scopus 로고
    • Genetic predisposition to colorectal cancer
    • de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004; 4: 769-780
    • (2004) Nat Rev Cancer , vol.4 , pp. 769-780
    • de la Chapelle, A.1
  • 3
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991; 34: 424-425
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3    Lynch, H.T.4
  • 4
    • 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. Gastroenterology 1999; 116: 1453-1456
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 5
    • 0031551963 scopus 로고    scopus 로고
    • Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997; 89: 1758-1762
    • Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997; 89: 1758-1762
  • 6
    • 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
  • 7
    • 0142124795 scopus 로고    scopus 로고
    • Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques
    • Nakagawa H, Hampel H, de la Chapelle A. Identification and characterization of genomic rearrangements of MSH2 and MLH1 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
  • 8
    • 0346363771 scopus 로고    scopus 로고
    • Genomic deletions in MSH2 or MLH1 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 MSH2 or MLH1 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
  • 10
    • 0005113978 scopus 로고    scopus 로고
    • Kurzawski G, Suchy J, Kladny J, Safranow K, Jakubowska A, Elsakov P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Gozdz S, Niepsuj S, Slomski R, Plawski A, Lacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska L, Bebenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Jawien A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki PE, Moeslein G, Lubinski J. Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. J Med Genet 2002; 39: E65
    • Kurzawski G, Suchy J, Kladny J, Safranow K, Jakubowska A, Elsakov P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Gozdz S, Niepsuj S, Slomski R, Plawski A, Lacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska L, Bebenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Jawien A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki PE, Moeslein G, Lubinski J. Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. J Med Genet 2002; 39: E65
  • 11
    • 0037730214 scopus 로고    scopus 로고
    • Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R. 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 MSH2 gene. Am J Hum Genet 2003; 72: 1088-1100
    • Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R. 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 MSH2 gene. Am J Hum Genet 2003; 72: 1088-1100
  • 12
    • 0031023727 scopus 로고    scopus 로고
    • Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled
    • Beek NE, Tomlinson IP, Homfray T, Hodgson SV, Harocopos CJ, Bodmer WF. Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled. Br J Surg 1997; 84: 233-237
    • (1997) Br J Surg , vol.84 , pp. 233-237
    • Beek, N.E.1    Tomlinson, I.P.2    Homfray, T.3    Hodgson, S.V.4    Harocopos, C.J.5    Bodmer, W.F.6
  • 13
    • 1042290354 scopus 로고    scopus 로고
    • Testing guidelines for hereditary non-polyposis colorectal cancer
    • Umar A, Risinger JI, Hawk ET, Barrett JC. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer 2004; 4: 153-158
    • (2004) Nat Rev Cancer , vol.4 , pp. 153-158
    • Umar, A.1    Risinger, J.I.2    Hawk, E.T.3    Barrett, J.C.4
  • 16
    • 0033938641 scopus 로고    scopus 로고
    • Sequence alterations can mask each other's presence during screening with SSCP or heteroduplex analysis: BRCA genes as examples
    • Orban TI, Csokay B, Olah E. Sequence alterations can mask each other's presence during screening with SSCP or heteroduplex analysis: BRCA genes as examples. Biotechniques 2000; 29: 94-98
    • (2000) Biotechniques , vol.29 , pp. 94-98
    • Orban, T.I.1    Csokay, B.2    Olah, E.3
  • 19
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7-12
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 20
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109: 121-124
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 21
    • 0742323558 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
    • Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004; 5: 89-99
    • (2004) Nat Rev Mol Cell Biol , vol.5 , pp. 89-99
    • Maquat, L.E.1
  • 26
    • 19444379003 scopus 로고    scopus 로고
    • hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair
    • Vo AT, Zhu F, Wu X, Yuan F, Gao Y, Gu L, Li GM, Lee TH, Her C. hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair. EMBO Rep 2005; 6: 438-444
    • (2005) EMBO Rep , vol.6 , pp. 438-444
    • Vo, A.T.1    Zhu, F.2    Wu, X.3    Yuan, F.4    Gao, Y.5    Gu, L.6    Li, G.M.7    Lee, T.H.8    Her, C.9
  • 27
    • 17144362174 scopus 로고    scopus 로고
    • Automated splicing mutation analysis by information theory
    • Nalla VK, Rogan PK. Automated splicing mutation analysis by information theory. Hum Mutat 2005; 25: 334-342
    • (2005) Hum Mutat , vol.25 , pp. 334-342
    • Nalla, V.K.1    Rogan, P.K.2
  • 30
    • 0037077309 scopus 로고    scopus 로고
    • Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha
    • Raschle M, Dufner P, Marra G, Jiricny J. Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha. J Biol Chem 2002; 277: 21810-21820
    • (2002) J Biol Chem , vol.277 , pp. 21810-21820
    • Raschle, M.1    Dufner, P.2    Marra, G.3    Jiricny, J.4
  • 31
    • 0030612650 scopus 로고    scopus 로고
    • Photocross-linking of the NH2-terminal region of Taq MutS protein to the major groove of a heteroduplex DNA
    • Malkov VA, Biswas I, Camerini-Otero RD, Hsieh P. Photocross-linking of the NH2-terminal region of Taq MutS protein to the major groove of a heteroduplex DNA. J Biol Chem 1997; 272: 23811-23817
    • (1997) J Biol Chem , vol.272 , pp. 23811-23817
    • Malkov, V.A.1    Biswas, I.2    Camerini-Otero, R.D.3    Hsieh, P.4
  • 32
    • 0034711294 scopus 로고    scopus 로고
    • Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit
    • Dufner P, Marra G, Raschle M, Jiricny J. Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit. J Biol Chem 2000; 275: 36550-36555
    • (2000) J Biol Chem , vol.275 , pp. 36550-36555
    • Dufner, P.1    Marra, G.2    Raschle, M.3    Jiricny, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.