메뉴 건너뛰기




Volumn 36, Issue 1, 2000, Pages 49-54

Value of pedigree/clinical data, immunohistochemistry and microsatellite instability analyses in reducing the cost of determining hMLH1 and hMSH2 gene mutations in patients with colorectal cancer

Author keywords

Clinical criteria; hMLH1; hMSH2; Immunohistochemistry; Microsatellite instability; Mutation detection

Indexed keywords

ARTICLE; COLORECTAL CANCER; COST; GENE MUTATION; GENE SEQUENCE; GERM LINE; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0033971331     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-8049(99)00208-7     Document Type: Article
Times cited : (99)

References (30)
  • 1
    • 0023513650 scopus 로고
    • Frequency of hereditary colorectal cancer
    • Mecklin J.K. Frequency of hereditary colorectal cancer. Gastroenterology. 93:1987;1021-1025.
    • (1987) Gastroenterology , vol.93 , pp. 1021-1025
    • Mecklin, J.K.1
  • 2
    • 0027966880 scopus 로고
    • A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden
    • Aaltonen L.A., Sankila R., Mecklin J.K.et al. A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden. Cancer Detect. Prev. 18:1994;57-63.
    • (1994) Cancer Detect. Prev. , vol.18 , pp. 57-63
    • Aaltonen, L.A.1    Sankila, R.2    Mecklin, J.K.3
  • 3
    • 0029089259 scopus 로고
    • Hereditary nonpolyposis colorectal cancer - The syndrome, the genes, and historical perspectives
    • Marra G., Boland C.R. Hereditary nonpolyposis colorectal cancer - the syndrome, the genes, and historical perspectives. J. Natl. Cancer Inst. 87:1995;1114-1124.
    • (1995) J. Natl. Cancer Inst. , vol.87 , pp. 1114-1124
    • Marra, G.1    Boland, C.R.2
  • 4
    • 0028350601 scopus 로고
    • Mutation of a mutL homolog in hereditary colon cancer
    • Papadopoulos N., Nicolaides N.C., Wei Y.F.et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 263:1994;1625-1628.
    • (1994) Science , vol.263 , pp. 1625-1628
    • Papadopoulos, N.1    Nicolaides, N.C.2    Wei, Y.F.3
  • 5
    • 0027145633 scopus 로고
    • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
    • Leach F.S., Nicolaides N.C., Papadopoulos N.et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 75:1993;1215-1225.
    • (1993) Cell , vol.75 , pp. 1215-1225
    • Leach, F.S.1    Nicolaides, N.C.2    Papadopoulos, N.3
  • 6
    • 0027933070 scopus 로고
    • Mutations of two PMS homologues in HNPCC
    • Nicolaides N.C., Papadopoulos N., Liu B.et al. Mutations of two PMS homologues in HNPCC. Nature. 371:1994;75-80.
    • (1994) Nature , vol.371 , pp. 75-80
    • Nicolaides, N.C.1    Papadopoulos, N.2    Liu, B.3
  • 7
    • 0030870631 scopus 로고    scopus 로고
    • Germline mutation of the hMSH6/GTBP gene in an atypical HNPCC kindred
    • Akiyama Y., Sato H., Yamada T.et al. Germline mutation of the hMSH6/GTBP gene in an atypical HNPCC kindred. Cancer Res. 57:1997;3920-3923.
    • (1997) Cancer Res. , vol.57 , pp. 3920-3923
    • Akiyama, Y.1    Sato, H.2    Yamada, T.3
  • 8
    • 0032065913 scopus 로고    scopus 로고
    • HNPCC associated with germline mutation in the TGF-B type II receptor gene
    • Lu S.L., Kawabata M., Imamura T.et al. HNPCC associated with germline mutation in the TGF-B type II receptor gene. Nature Genet. 19:1998;17-18.
    • (1998) Nature Genet. , vol.19 , pp. 17-18
    • Lu, S.L.1    Kawabata, M.2    Imamura, T.3
  • 9
    • 0029990917 scopus 로고    scopus 로고
    • Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma
    • Rhyu M.S. Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma. J. Natl. Cancer Inst. 88:1996;240-251.
    • (1996) J. Natl. Cancer Inst. , vol.88 , pp. 240-251
    • Rhyu, M.S.1
  • 10
    • 0028070771 scopus 로고
    • Role of clinical criteria in the diagnosis of hereditary nonpolyposis colorectal cancer: Results of a multivariate analysis
    • Percesepe A., Anti M., Marra G.et al. Role of clinical criteria in the diagnosis of hereditary nonpolyposis colorectal cancer. results of a multivariate analysis Int. J. Cancer. 58:1994;799.
    • (1994) Int. J. Cancer , vol.58 , pp. 799
    • Percesepe, A.1    Anti, M.2    Marra, G.3
  • 11
    • 0028226295 scopus 로고
    • Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients
    • Aaltonen L.A., Peltomaki P., Mecklin J.P.et al. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res. 54:1994;1645-1648.
    • (1994) Cancer Res. , vol.54 , pp. 1645-1648
    • Aaltonen, L.A.1    Peltomaki, P.2    Mecklin, J.P.3
  • 12
    • 10144250305 scopus 로고    scopus 로고
    • Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer
    • Moslein G., Tester D.J., Lindor N.M.et al. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum. Mol. Gen. 5:1996;1245-1252.
    • (1996) Hum. Mol. Gen. , vol.5 , pp. 1245-1252
    • Moslein, G.1    Tester, D.J.2    Lindor, N.M.3
  • 13
    • 10344228783 scopus 로고    scopus 로고
    • Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes
    • Thibodeau S.N., French A.J., Roche P.C.et al. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res. 56:1996;4836-4840.
    • (1996) Cancer Res. , vol.56 , pp. 4836-4840
    • Thibodeau, S.N.1    French, A.J.2    Roche, P.C.3
  • 14
    • 0030778613 scopus 로고    scopus 로고
    • Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression
    • Dietmaier W., Wallinger S., Bocker T.et al. Diagnostic microsatellite instability. definition and correlation with mismatch repair protein expression Cancer Res. 57:1997-4756. 4749.
    • Cancer Res. , vol.57 , pp. 4749
    • Dietmaier, W.1    Wallinger, S.2    Bocker, T.3
  • 15
    • 2942569549 scopus 로고    scopus 로고
    • Analysis of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients
    • Liu B., Parsons R., Papadopoulos N.et al. Analysis of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients. Nature Med. 2:1996;169-174.
    • (1996) Nature Med. , vol.2 , pp. 169-174
    • Liu, B.1    Parsons, R.2    Papadopoulos, N.3
  • 16
    • 77958412178 scopus 로고
    • Dinucleotide repeat polymorphism in the human DCC gene at chromosome 18q21
    • Risinger J.I., Boyd J. Dinucleotide repeat polymorphism in the human DCC gene at chromosome 18q21. Hum. Mol. Genet. 1:1994;657.
    • (1994) Hum. Mol. Genet. , vol.1 , pp. 657
    • Risinger, J.I.1    Boyd, J.2
  • 17
    • 0025010998 scopus 로고
    • Dinucleotide repeat polymorphism at the D18S35 locus
    • Weber J.L., May P.E. Dinucleotide repeat polymorphism at the D18S35 locus. Nucleic Acids Res. 18:1994;6465.
    • (1994) Nucleic Acids Res. , vol.18 , pp. 6465
    • Weber, J.L.1    May, P.E.2
  • 18
    • 0028152314 scopus 로고
    • Loss of the wild type MLH1 gene is a feature of HNPCC
    • Hemminki A., Peltomaki P., Mecklin J.K.et al. Loss of the wild type MLH1 gene is a feature of HNPCC. Nature Genet. 8:1994;405-410.
    • (1994) Nature Genet. , vol.8 , pp. 405-410
    • Hemminki, A.1    Peltomaki, P.2    Mecklin, J.K.3
  • 19
    • 0028231090 scopus 로고
    • The 1993-94 genethon human genetic linkage map
    • Gyapay G., Morissette J., Vignal A.et al. The 1993-94 genethon human genetic linkage map. Nature Genet. 7:1994;246-339.
    • (1994) Nature Genet. , vol.7 , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 21
    • 0032555020 scopus 로고    scopus 로고
    • Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
    • Aaltonen L.A., Salovaara R., Kristo P.et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N. Engl. J. Med. 338:1998;1481-1487.
    • (1998) N. Engl. J. Med. , vol.338 , pp. 1481-1487
    • Aaltonen, L.A.1    Salovaara, R.2    Kristo, P.3
  • 22
    • 0031916753 scopus 로고    scopus 로고
    • MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer
    • Genuardi M., Anti M., Capozzi E.et al. MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. Int. J. Cancer. 75:1998;835-839.
    • (1998) Int. J. Cancer , vol.75 , pp. 835-839
    • Genuardi, M.1    Anti, M.2    Capozzi, E.3
  • 23
    • 0031015440 scopus 로고    scopus 로고
    • Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability
    • Herfarth K., Kodner I., Whelan A.et al. Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability. Genes Chromosomes Cancer. 18:1997;42-49.
    • (1997) Genes Chromosomes Cancer , vol.18 , pp. 42-49
    • Herfarth, K.1    Kodner, I.2    Whelan, A.3
  • 24
    • 0028859671 scopus 로고
    • Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability
    • Liu B., Nicolaides N., Markowitz S.et al. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet. 9:1995;48-55.
    • (1995) Nature Genet. , vol.9 , pp. 48-55
    • Liu, B.1    Nicolaides, N.2    Markowitz, S.3
  • 25
    • 0032552239 scopus 로고    scopus 로고
    • Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
    • Wijnen J.T., Vasen H., Khan P.M.et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N. Engl. J. Med. 339:1998;511-518.
    • (1998) N. Engl. J. Med. , vol.339 , pp. 511-518
    • Wijnen, J.T.1    Vasen, H.2    Khan, P.M.3
  • 26
    • 0033039409 scopus 로고    scopus 로고
    • Suspected hereditary nonopolyposis colorectal cancer: The international collaborative group on hereditary nonpolyposis colorectal cancer criteria and results of genetic diagnosis
    • Park J.G., Vasen H., Park K.J.,et al. Suspected hereditary nonopolyposis colorectal cancer. the international collaborative group on hereditary nonpolyposis colorectal cancer criteria and results of genetic diagnosis Dis. Colon. Rect. 42:1999;710-716.
    • (1999) Dis. Colon. Rect. , vol.42 , pp. 710-716
    • Park, J.G.1    Vasen, H.2    Park, K.J.3
  • 27
    • 0030882381 scopus 로고    scopus 로고
    • Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study
    • Peltomaki P., Vasen H. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology. 113:1997;1146-1158.
    • (1997) Gastroenterology , vol.113 , pp. 1146-1158
    • Peltomaki, P.1    Vasen, H.2
  • 28
    • 0032146118 scopus 로고    scopus 로고
    • Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability
    • Cunningham J.M., Christensen E.R., Tester D.J.et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 58:1998;3455-3460.
    • (1998) Cancer Res. , vol.58 , pp. 3455-3460
    • Cunningham, J.M.1    Christensen, E.R.2    Tester, D.J.3
  • 29
    • 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
    • Boland C.R., Thibodeau S., Hamilton S.et al. 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. 58:1998;5248-5257.
    • (1998) Cancer Res. , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.2    Hamilton, S.3
  • 30
    • 0030727515 scopus 로고    scopus 로고
    • Microsatellite instability analysis: A multicenter study for reliability and quality control
    • Bocker T., Diermann J., Friedl W.et al. Microsatellite instability analysis. a multicenter study for reliability and quality control Cancer Res. 57:1997;4739-4743.
    • (1997) Cancer Res. , vol.57 , pp. 4739-4743
    • Bocker, T.1    Diermann, J.2    Friedl, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.