메뉴 건너뛰기




Volumn 34, Issue 11, 2004, Pages 660-666

Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR

Author keywords

Hereditary non polyposis colorectal cancer (HNPCC); hMLH1 gene; hMSH2 gene point mutation; Large genomic deletions

Indexed keywords

GENOMIC DNA; PROTEIN MLH1; PROTEIN MLH2; TUMOR PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; DNA BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; ONCOPROTEIN; PROTEIN MSH2;

EID: 16644382569     PISSN: 03682811     EISSN: 14653621     Source Type: Journal    
DOI: 10.1093/jjco/hyh121     Document Type: Article
Times cited : (15)

References (35)
  • 1
    • 0031889825 scopus 로고    scopus 로고
    • Genetic identification and management of hereditary nonpolyposis colorectal cancer (Review)
    • Park JG, Yuan Y. Genetic identification and management of hereditary nonpolyposis colorectal cancer (Review). Int J Oncol 1998;12:947-55.
    • (1998) Int J Oncol , vol.12 , pp. 947-955
    • Park, J.G.1    Yuan, Y.2
  • 2
    • 0035054387 scopus 로고    scopus 로고
    • Deficient DNA mismatch repair: A common etiologic factor for colon cancer
    • Peltomaki P. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Mol Genet 2001;10:735-40.
    • (2001) Hum Mol Genet , vol.10 , pp. 735-740
    • Peltomaki, P.1
  • 3
    • 2942569549 scopus 로고    scopus 로고
    • Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients
    • Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, et al. Analysis of mismatch repair genes 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    Nicolaides, N.C.4    Lynch, H.T.5    Watson, P.6
  • 6
    • 0032487831 scopus 로고    scopus 로고
    • MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas
    • Esteller M, Levine R, Baylin SB, Ellenson LH, Herman JG. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 1998;17:2413-7.
    • (1998) Oncogene , vol.17 , pp. 2413-2417
    • Esteller, M.1    Levine, R.2    Baylin, S.B.3    Ellenson, L.H.4    Herman, J.G.5
  • 7
    • 0034827025 scopus 로고    scopus 로고
    • The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas
    • Cunningham JM, Kim CY, Christensen ER, Tester DJ, Pare Y, Burgart LJ, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001;69:780-90.
    • (2001) Am J Hum Genet , vol.69 , pp. 780-790
    • Cunningham, J.M.1    Kim, C.Y.2    Christensen, E.R.3    Tester, D.J.4    Pare, Y.5    Burgart, L.J.6
  • 8
    • 0031016750 scopus 로고    scopus 로고
    • Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria
    • Beck NE, Tomlinson IP, Homfray T, Frayling I, Hodgson SV, Harocopos C, et al. Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. Hum Genet 1997;99: 219-24.
    • (1997) Hum Genet , vol.99 , pp. 219-224
    • Beck, N.E.1    Tomlinson, I.P.2    Homfray, T.3    Frayling, I.4    Hodgson, S.V.5    Harocopos, C.6
  • 9
    • 0028955451 scopus 로고
    • Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis
    • Wijnen J, Vasen H, Khan PM, Menko FH, van der Klift H, van Leeuwen C, et al. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am J Hum Genet 1995;56: 1060-6.
    • (1995) Am J Hum Genet , vol.56 , pp. 1060-1066
    • Wijnen, J.1    Vasen, H.2    Khan, P.M.3    Menko, F.H.4    Van Der Klift, H.5    Van Leeuwen, C.6
  • 10
    • 0032820317 scopus 로고    scopus 로고
    • Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1
    • Wahlberg S, Liu T, Lndblom P, Lindblom A. Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1. Genet Test 1999;3:259-64.
    • (1999) Genet Test , vol.3 , pp. 259-264
    • Wahlberg, S.1    Liu, T.2    Lndblom, P.3    Lindblom, A.4
  • 12
    • 0037455807 scopus 로고    scopus 로고
    • Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes
    • Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, et al. Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer 2003;103:636-41.
    • (2003) Int J Cancer , vol.103 , pp. 636-641
    • Wang, Y.1    Friedl, W.2    Lamberti, C.3    Jungck, M.4    Mathiak, M.5    Pagenstecher, C.6
  • 14
    • 0036468254 scopus 로고    scopus 로고
    • MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer
    • Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, et al. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 2002;62:848-53.
    • (2002) Cancer Res , vol.62 , pp. 848-853
    • Charbonnier, F.1    Olschwang, S.2    Wang, Q.3    Boisson, C.4    Martin, C.5    Buisine, M.P.6
  • 15
    • 0025848680 scopus 로고
    • The International Collaborative Group on hereditary nonpolyposis colorectal cancer
    • Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on hereditary nonpolyposis colorectal cancer. Dis Colon Rectum 1991;34:424-5.
    • (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
  • 16
    • 0003165575 scopus 로고    scopus 로고
    • Clinical applications of genetic studies in hereditary colorectal cancer
    • Baba S, editor. Tokyo: Churchill Livingston
    • Baba S. Clinical applications of genetic studies in hereditary colorectal cancer. In: Baba S, editor. New Strategies for Treatment of Hereditary Colorectal Cancer. Tokyo: Churchill Livingston 1996;137-52.
    • (1996) New Strategies for Treatment of Hereditary Colorectal Cancer , pp. 137-152
    • Baba, S.1
  • 17
    • 0031942514 scopus 로고    scopus 로고
    • Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early onset colorectal cancer
    • Yuan Y, Han HJ, Zheng S, Park JG. Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early onset colorectal cancer. Dis Colon Rectum 1998;41:434-40.
    • (1998) Dis Colon Rectum , vol.41 , pp. 434-440
    • Yuan, Y.1    Han, H.J.2    Zheng, S.3    Park, J.G.4
  • 18
    • 0031551963 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda Guidelines
    • Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda Guidelines. J Natl Cancer Inst 1997;89: 1758-62.
    • (1997) J Natl Cancer Inst , vol.89 , pp. 1758-1762
    • Rodriguez-Bigas, M.A.1    Boland, C.R.2    Hamilton, S.R.3    Henson, D.E.4    Jass, J.R.5    Khan, P.M.6
  • 19
    • 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;116:1453-6.
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 20
    • 29944436312 scopus 로고    scopus 로고
    • Criteria for Chinese hereditary colon cancer
    • Yuan Y, Zhang SZ, Zheng S. Criteria for Chinese hereditary colon cancer. Chin J Oncol 2004;26:191-2.
    • (2004) Chin J Oncol , vol.26 , pp. 191-192
    • Yuan, Y.1    Zhang, S.Z.2    Zheng, S.3
  • 22
    • 0037442154 scopus 로고    scopus 로고
    • Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer
    • Cai SJ, Xu Y, Cai GX, Lian P, Guan ZQ, Mo SJ, et al. Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer. World J Gastroenterol 2003;9:284-7.
    • (2003) World J Gastroenterol , vol.9 , pp. 284-287
    • Cai, S.J.1    Xu, Y.2    Cai, G.X.3    Lian, P.4    Guan, Z.Q.5    Mo, S.J.6
  • 23
    • 0036790504 scopus 로고    scopus 로고
    • Analysis for phenotype of HNPCC in China
    • Song YM, Zheng S. Analysis for phenotype of HNPCC in China. World J Gastroenterol 2002;8:830-40.
    • (2002) World J Gastroenterol , vol.8 , pp. 830-840
    • Song, Y.M.1    Zheng, S.2
  • 24
    • 0035683559 scopus 로고    scopus 로고
    • Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families
    • Cai Q, Sun MH, Lu HF, Zhang TM, Mo SJ, Xu Y, et al. Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. World J Gastroenterol 2001;7:805-10.
    • (2001) World J Gastroenterol , vol.7 , pp. 805-810
    • Cai, Q.1    Sun, M.H.2    Lu, H.F.3    Zhang, T.M.4    Mo, S.J.5    Xu, Y.6
  • 27
    • 9544241423 scopus 로고    scopus 로고
    • Germline mutations of h1MLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer
    • Han HJ, Yuan Y, Ku JL, Oh JH, Won YJ, Kang KJ, et al. Germline mutations of h1MLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. J Natl Cancer Inst 1996;88:1317-9.
    • (1996) J Natl Cancer Inst , vol.88 , pp. 1317-1319
    • Han, H.J.1    Yuan, Y.2    Ku, J.L.3    Oh, J.H.4    Won, Y.J.5    Kang, K.J.6
  • 28
    • 0028818819 scopus 로고
    • Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): Usefulness of DNA analysis for screening and diagnosis of HNPCC patients
    • Miyaki M, Konishi M, Muraoka M, Kikuchi-Yanoshita R, Tanaka K, Iwama T, et al. Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. J Mol Med 1995;73:515-20.
    • (1995) J Mol Med , vol.73 , pp. 515-520
    • Miyaki, M.1    Konishi, M.2    Muraoka, M.3    Kikuchi-Yanoshita, R.4    Tanaka, K.5    Iwama, T.6
  • 29
    • 0033123446 scopus 로고    scopus 로고
    • Mutations of hMLH1 and hMSH2 genes in suspected hereditary nonpolyposis colorectal cancer
    • Yuan Y, Zheng S. Mutations of hMLH1 and hMSH2 genes in suspected hereditary nonpolyposis colorectal cancer. Natl Med J China 1999;79:346-8.
    • (1999) Natl Med J China , vol.79 , pp. 346-348
    • Yuan, Y.1    Zheng, S.2
  • 30
    • 0033039409 scopus 로고    scopus 로고
    • Suspected hereditary nonpolyposis colorectal cancer: International Collaborative Group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC) criteria and results of genetic diagnosis
    • Park JG, Vasen HFA, Park KJ, Peltomaki P, Ponz de Leon M, Rodriguez-Bigas MA, et al. Suspected hereditary nonpolyposis colorectal cancer: International Collaborative Group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC) criteria and results of genetic diagnosis. Dis Colon Rectum 1999;42:710-6.
    • (1999) Dis Colon Rectum , vol.42 , pp. 710-716
    • Park, J.G.1    Vasen, H.F.A.2    Park, K.J.3    Peltomaki, P.4    Ponz De Leon, M.5    Rodriguez-Bigas, M.A.6
  • 31
    • 0034213622 scopus 로고    scopus 로고
    • Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments
    • Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, et al. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 2000;60:2760-3.
    • (2000) Cancer Res , vol.60 , pp. 2760-2763
    • Charbonnier, F.1    Raux, G.2    Wang, Q.3    Drouot, N.4    Cordier, F.5    Limacher, J.M.6
  • 33
    • 10544229341 scopus 로고    scopus 로고
    • Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer
    • Mauillon JL, Michel P, Limacher JM, Latouche JB, Dechelotte P, Charbonnier F, et al. Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer. Cancer Res 1996;56:5728-33.
    • (1996) Cancer Res , vol.56 , pp. 5728-5733
    • Mauillon, J.L.1    Michel, P.2    Limacher, J.M.3    Latouche, J.B.4    Dechelotte, P.5    Charbonnier, F.6
  • 34
    • 0000520709 scopus 로고
    • Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)
    • Oefner PJ, Underhill PA. Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am J Hum Genet 1995;57(Suppl):A266.
    • (1995) Am J Hum Genet , vol.57 , Issue.SUPPL.
    • Oefner, P.J.1    Underhill, P.A.2
  • 35
    • 0033825587 scopus 로고    scopus 로고
    • Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MHS2 and MLH1
    • Syngal S, Fox EA, Eng C, Kolodner RD, Garber JE. Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MHS2 and MLH1. J Med Genet 2000;37:641-5.
    • (2000) J Med Genet , vol.37 , pp. 641-645
    • Syngal, S.1    Fox, E.A.2    Eng, C.3    Kolodner, R.D.4    Garber, J.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.