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Volumn 34, Issue 6, 2002, Pages 529-533

Mutation searching in colorectal cancer studies: Experience with a denaturing high-pressure liquid chromatography system for exon-by-exon scanning of tumour suppressor genes

Author keywords

Colorectal cancer; HNPCC; Mutation

Indexed keywords

GENE PRODUCT; PROTEIN MLH1; PROTEIN MLH2; UNCLASSIFIED DRUG;

EID: 12244311160     PISSN: 00313025     EISSN: None     Source Type: Journal    
DOI: 10.1080/0031302021000035965-1     Document Type: Article
Times cited : (17)

References (27)
  • 1
    • 0027738023 scopus 로고
    • Association of the APC gene product with beta-catenin
    • Rubinfeld B, Souza B, Albert I, et al. Association of the APC gene product with beta-catenin. Science 1993; 262: 1731-4.
    • (1993) Science , vol.262 , pp. 1731-1734
    • Rubinfeld, B.1    Souza, B.2    Albert, I.3
  • 2
    • 0025938038 scopus 로고
    • Identification and characterization of the familial adenomatous polyposis coli gene
    • Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66: 589-600.
    • (1991) Cell , vol.66 , pp. 589-600
    • Groden, J.1    Thliveris, A.2    Samowitz, W.3
  • 3
    • 0025941471 scopus 로고
    • Identification of deletion mutations and three new genes at the familial polyposis locus
    • Joslyn G, Carlson M, Thliveris A, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991; 66: 601-13.
    • (1991) Cell , vol.66 , pp. 601-613
    • Joslyn, G.1    Carlson, M.2    Thliveris, A.3
  • 4
    • 0026361456 scopus 로고
    • Mutations of the adenomatous polyposis coli gene in familial polyposis coli patients and sporadic colorectal tumors
    • Nakamura Y, Nishisho I, Kinzler KW, et al. Mutations of the adenomatous polyposis coli gene in familial polyposis coli patients and sporadic colorectal tumors. Princess Takamatsu Symp 1991; 22: 285-92.
    • (1991) Princess Takamatsu Symp , vol.22 , pp. 285-292
    • Nakamura, Y.1    Nishisho, I.2    Kinzler, K.W.3
  • 5
    • 0026894053 scopus 로고
    • Somatic mutations of the APC gene in colorectal tumors: Mutation cluster region in the APC gene
    • Miyoshi Y, Nagase H, Ando H, et al. Somatic mutations of the APC gene in colorectal tumors: Mutation cluster region in the APC gene. Hum Mol Genet 1992; 1: 229-33.
    • (1992) Hum Mol Genet , vol.1 , pp. 229-233
    • Miyoshi, Y.1    Nagase, H.2    Ando, H.3
  • 6
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
    • van der Luijt R, Khan PM, Vasen H, et al. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 1994; 20: 1-4.
    • (1994) Genomics , vol.20 , pp. 1-4
    • Van der Luijt, R.1    Khan, P.M.2    Vasen, H.3
  • 7
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993; 75: 1027-38.
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.K.2    Rao, M.R.3
  • 8
    • 0028595722 scopus 로고
    • Binding of mismatched microsatellite DNA sequences by the human MSH2 protein
    • Fishel R, Ewel A, Lee S, Lescoe MK, Griffith J. Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science 1994; 266: 1403-5.
    • (1994) Science , vol.266 , pp. 1403-1405
    • Fishel, R.1    Ewel, A.2    Lee, S.3    Lescoe, M.K.4    Griffith, J.5
  • 9
    • 0028053411 scopus 로고
    • Purified human MSH2 protein binds to DNA containing mismatched nucleotides
    • Fishel R, Ewel A, Lescoe MK. Purified human MSH2 protein binds to DNA containing mismatched nucleotides. Cancer Res 1994; 54: 5539-42.
    • (1994) Cancer Res , vol.54 , pp. 5539-5542
    • Fishel, R.1    Ewel, A.2    Lescoe, M.K.3
  • 10
    • 0037093496 scopus 로고    scopus 로고
    • Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome
    • Kariola R, Raevaara TE, Lonnqvist KE, Nystrom-Lahti M. Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. Hum Mol Genet 2002; 11: 1303-10.
    • (2002) Hum Mol Genet , vol.11 , pp. 1303-1310
    • Kariola, R.1    Raevaara, T.E.2    Lonnqvist, K.E.3    Nystrom-Lahti, M.4
  • 11
    • 0028673197 scopus 로고
    • Human mismatch repair genes and their association with hereditary non- polyposis colon cancer
    • Kolodner RD, Hall NR, Lipford J, et al. Human mismatch repair genes and their association with hereditary non- polyposis colon cancer. Cold Spring Harbor Symp Quant Biol 1994; 59: 331-8.
    • (1994) Cold Spring Harbor Symp Quant Biol , vol.59 , pp. 331-338
    • Kolodner, R.D.1    Hall, N.R.2    Lipford, J.3
  • 12
    • 0027145633 scopus 로고
    • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
    • Leach FS, Nicolaides NC, Papadopoulos N, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993; 75: 1215-25.
    • (1993) Cell , vol.75 , pp. 1215-1225
    • Leach, F.S.1    Nicolaides, N.C.2    Papadopoulos, N.3
  • 13
    • 0033986475 scopus 로고    scopus 로고
    • MLH3: A DNA mismatch repair gene associated with mammalian microsatellite instability
    • Lipkin SM, Wang V, Jacoby R, et al. MLH3: A DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet 2000; 24: 27-35.
    • (2000) Nat Genet , vol.24 , pp. 27-35
    • Lipkin, S.M.1    Wang, V.2    Jacoby, R.3
  • 14
    • 0028350601 scopus 로고
    • Mutation of a mutL homolog in hereditary colon cancer
    • Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutation of a mutL homolog in hereditary colon cancer. Science 1994; 263: 1625-9.
    • (1994) Science , vol.263 , pp. 1625-1629
    • Papadopoulos, N.1    Nicolaides, N.C.2    Wei, Y.F.3
  • 15
    • 0027137935 scopus 로고
    • Hypermutability and mismatch repair deficiency in RER+ tumor cells
    • Parsons R, Li GM, Longley MJ, et al. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 1993; 75: 1227-36.
    • (1993) Cell , vol.75 , pp. 1227-1236
    • Parsons, R.1    Li, G.M.2    Longley, M.J.3
  • 16
    • 0028128601 scopus 로고
    • MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast
    • Prolla TA, Pang Q, Alani E, Kolodner RD, Liskay RM. MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast. Science 1994; 265: 1091-3.
    • (1994) Science , vol.265 , pp. 1091-1093
    • Prolla, T.A.1    Pang, Q.2    Alani, E.3    Kolodner, R.D.4    Liskay, R.M.5
  • 17
    • 0034795933 scopus 로고    scopus 로고
    • A role for MLH3 in hereditary nonpolyposis colorectal cancer
    • Wu Y, Berends MJ, Sijmons RH, et al. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 2001; 29: 137-8.
    • (2001) Nat Genet , vol.29 , pp. 137-138
    • Wu, Y.1    Berends, M.J.2    Sijmons, R.H.3
  • 18
    • 0037083484 scopus 로고    scopus 로고
    • Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
    • Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002; 20: 1043-8.
    • (2002) J Clin Oncol , vol.20 , pp. 1043-1048
    • Lindor, N.M.1    Burgart, L.J.2    Leontovich, O.3
  • 19
    • 7144256236 scopus 로고    scopus 로고
    • Morphology of sporadic colorectal cancer with DNA replication errors
    • Jass J, Do K-A, Simms LA, et al. Morphology of sporadic colorectal cancer with DNA replication errors. Gut 1998; 42: 673-9.
    • (1998) Gut , vol.42 , pp. 673-679
    • Jass, J.1    Do, K.-A.2    Simms, L.A.3
  • 20
    • 0035969935 scopus 로고    scopus 로고
    • DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2
    • Holinski-Feder E, Muller-Koch Y, Friedl W, et al. DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem Biophys Methods 2001; 47: 21-32.
    • (2001) J Biochem Biophys Methods , vol.47 , pp. 21-32
    • Holinski-Feder, E.1    Muller-Koch, Y.2    Friedl, W.3
  • 21
    • 0035746670 scopus 로고    scopus 로고
    • Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy
    • Takashima H, Boerkoel CF, Lupski JR. Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med 2001; 3: 335-42.
    • (2001) Genet Med , vol.3 , pp. 335-342
    • Takashima, H.1    Boerkoel, C.F.2    Lupski, J.R.3
  • 22
    • 0035726850 scopus 로고    scopus 로고
    • Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography
    • Wu G, Wu W, Hegde M, et al. Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. Genet Test 2001; 5: 281-90.
    • (2001) Genet Test , vol.5 , pp. 281-290
    • Wu, G.1    Wu, W.2    Hegde, M.3
  • 23
    • 0036511614 scopus 로고    scopus 로고
    • Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort
    • Bunn CF, Lintott CJ, Scott RS, George PM. Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. Hum Mutat 2002; 19: 311.
    • (2002) Hum Mutat , vol.19 , pp. 311
    • Bunn, C.F.1    Lintott, C.J.2    Scott, R.S.3    George, P.M.4
  • 24
    • 0036197411 scopus 로고    scopus 로고
    • Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
    • Matyas G, De Paepe A, Halliday D, et al. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum Mutat 2002; 19: 443-56.
    • (2002) Hum Mutat , vol.19 , pp. 443-456
    • Matyas, G.1    De Paepe, A.2    Halliday, D.3
  • 25
    • 0034961001 scopus 로고    scopus 로고
    • Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)
    • Lin D, Goldstein JA, Mhatre AN, et al. Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat 2001; 18: 42-51.
    • (2001) Hum Mutat , vol.18 , pp. 42-51
    • Lin, D.1    Goldstein, J.A.2    Mhatre, A.N.3
  • 26
    • 0035793108 scopus 로고    scopus 로고
    • HPP1: A transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancers
    • Young J, Biden KG, Simms LA, et al. HPP1: A transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancers. Proc Natl Acad Sci USA 2001; 98: 265-70.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 265-270
    • Young, J.1    Biden, K.G.2    Simms, L.A.3
  • 27
    • 0031795020 scopus 로고    scopus 로고
    • MSH2 genomic deletions are a frequent cause of HNPCC
    • Wijnen J, van der Klift H, Vasen H, et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 1998; 20: 326-8.
    • (1998) Nat Genet , vol.20 , pp. 326-328
    • Wijnen, J.1    Van der Klift, H.2    Vasen, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.