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Volumn 54, Issue 11, 2008, Pages 1844-1854

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MUTL; SNARE PROTEIN;

EID: 55349101227     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2008.108902     Document Type: Article
Times cited : (20)

References (38)
  • 1
    • 33646187811 scopus 로고    scopus 로고
    • The multifaceted mismatch-repair system [Review]
    • Jiricny J. The multifaceted mismatch-repair system [Review]. Nat Rev Mol Cell Biol 2006;7:335-46.
    • (2006) Nat Rev Mol Cell Biol , vol.7 , pp. 335-346
    • Jiricny, J.1
  • 4
    • 0036304753 scopus 로고    scopus 로고
    • Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia
    • Krajinovic M, Labuda D, Mathonnet G, Labuda M, Moghrabi A, Champagne J, Sinnett D. Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia. Clin Cancer Res 2002;8:802-10.
    • (2002) Clin Cancer Res , vol.8 , pp. 802-810
    • Krajinovic, M.1    Labuda, D.2    Mathonnet, G.3    Labuda, M.4    Moghrabi, A.5    Champagne, J.6    Sinnett, D.7
  • 5
    • 0141707710 scopus 로고    scopus 로고
    • Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia
    • Mathonnet G, Krajinovic M, Labuda D, Sinnett D. Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia. Br J Haematol 2003;123:45-8.
    • (2003) Br J Haematol , vol.123 , pp. 45-48
    • Mathonnet, G.1    Krajinovic, M.2    Labuda, D.3    Sinnett, D.4
  • 6
    • 12444329767 scopus 로고    scopus 로고
    • An intron splice acceptor polymorphism in hMSH2 and risk of leukemia after treatment with chemotherapeutic alkylating agents
    • Worrillow LJ, Travis LB, Smith AG, Rollinson S, Smith AJ, Wild CP, et al. An intron splice acceptor polymorphism in hMSH2 and risk of leukemia after treatment with chemotherapeutic alkylating agents. Clin Cancer Res 2003;9:3012-20.
    • (2003) Clin Cancer Res , vol.9 , pp. 3012-3020
    • Worrillow, L.J.1    Travis, L.B.2    Smith, A.G.3    Rollinson, S.4    Smith, A.J.5    Wild, C.P.6
  • 8
    • 0033951489 scopus 로고    scopus 로고
    • Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer
    • Palicio M, Blanco I, Tortola S, Gonzalez I, Marcuello E, Brunet J, et al. Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer. Br J Cancer 2000;82:535-7.
    • (2000) Br J Cancer , vol.82 , pp. 535-537
    • Palicio, M.1    Blanco, I.2    Tortola, S.3    Gonzalez, I.4    Marcuello, E.5    Brunet, J.6
  • 9
    • 34047272113 scopus 로고    scopus 로고
    • MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer
    • Raptis S, Mrkonjic M, Green RC, Pethe VV, Monga N, Chan YM, et al. MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J Natl Cancer Inst 2007;99:463-74.
    • (2007) J Natl Cancer Inst , vol.99 , pp. 463-474
    • Raptis, S.1    Mrkonjic, M.2    Green, R.C.3    Pethe, V.V.4    Monga, N.5    Chan, Y.M.6
  • 13
    • 24144493178 scopus 로고    scopus 로고
    • Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome
    • Baudhuin LM, Burgart LJ, Leontovich O, Thibodeau SN. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer 2005;4:255-65.
    • (2005) Fam Cancer , vol.4 , pp. 255-265
    • Baudhuin, L.M.1    Burgart, L.J.2    Leontovich, O.3    Thibodeau, S.N.4
  • 14
    • 33747871345 scopus 로고    scopus 로고
    • Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    • Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006;66:7810-7.
    • (2006) Cancer Res , vol.66 , pp. 7810-7817
    • Hampel, H.1    Frankel, W.2    Panescu, J.3    Lockman, J.4    Sotamaa, K.5    Fix, D.6
  • 16
    • 35348836941 scopus 로고    scopus 로고
    • The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome
    • Lucci-Cordisco E, Boccuto L, Neri G, Genuardi M. The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. Cancer Biomark 2006;2:11-27.
    • (2006) Cancer Biomark , vol.2 , pp. 11-27
    • Lucci-Cordisco, E.1    Boccuto, L.2    Neri, G.3    Genuardi, M.4
  • 17
    • 34250715384 scopus 로고    scopus 로고
    • Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) [Review]
    • Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) [Review]. J Med Genet 2007;44:353-62.
    • (2007) J Med Genet , vol.44 , pp. 353-362
    • Vasen, H.F.1    Moslein, G.2    Alonso, A.3    Bernstein, I.4    Bertario, L.5    Blanco, I.6
  • 18
    • 1242317792 scopus 로고    scopus 로고
    • Germline testing of mismatch repair genes is not aided by prescreening tumours for allelic loss
    • Ward RL, Mokany E. Germline testing of mismatch repair genes is not aided by prescreening tumours for allelic loss. Gut 2004;53:471-2.
    • (2004) Gut , vol.53 , pp. 471-472
    • Ward, R.L.1    Mokany, E.2
  • 19
    • 34447132378 scopus 로고    scopus 로고
    • Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: A novel approach
    • Ollikainen M, Hannelius U, Lindgren CM, Abdel-Rahman WM, Kere J, Peltomaki P. Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach. Oncogene 2007;26:4541-9.
    • (2007) Oncogene , vol.26 , pp. 4541-4549
    • Ollikainen, M.1    Hannelius, U.2    Lindgren, C.M.3    Abdel-Rahman, W.M.4    Kere, J.5    Peltomaki, P.6
  • 20
    • 0037389344 scopus 로고    scopus 로고
    • Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia
    • Bartosova Z, Fridrichova I, Bujalkova M, Wolf B, Ilencikova D, Krizan P, et al. Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. Hum Mutat 2003;21:449-54.
    • (2003) Hum Mutat , vol.21 , pp. 449-454
    • Bartosova, Z.1    Fridrichova, I.2    Bujalkova, M.3    Wolf, B.4    Ilencikova, D.5    Krizan, P.6
  • 21
    • 33746318687 scopus 로고    scopus 로고
    • Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia
    • Zavodna K, Bujalkova M, Krivulcik T, Alemayehu A, Skorvaga M, Marra G, et al. Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia. Neoplasma 2006;53:269-76.
    • (2006) Neoplasma , vol.53 , pp. 269-276
    • Zavodna, K.1    Bujalkova, M.2    Krivulcik, T.3    Alemayehu, A.4    Skorvaga, M.5    Marra, G.6
  • 22
    • 20044365644 scopus 로고    scopus 로고
    • Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer
    • Wolf B, Henglmueller S, Janschek E, Ilencikova D, Ludwig-Papst C, Bergmann M, et al. Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer. Wien Klin Wochenschr 2005;117:269-77.
    • (2005) Wien Klin Wochenschr , vol.117 , pp. 269-277
    • Wolf, B.1    Henglmueller, S.2    Janschek, E.3    Ilencikova, D.4    Ludwig-Papst, C.5    Bergmann, M.6
  • 23
    • 33644558027 scopus 로고    scopus 로고
    • Efficiency of the revised Bethesda guidelines (2003) for the detection of mutations in mismatch repair genes in Austrian HNPCC patients
    • Wolf B, Gruber S, Henglmueller S, Kappel S, Bergmann M, Wrba F, Karner-Hanusch J. Efficiency of the revised Bethesda guidelines (2003) for the detection of mutations in mismatch repair genes in Austrian HNPCC patients. Int J Cancer 2006;118:1465-70.
    • (2006) Int J Cancer , vol.118 , pp. 1465-1470
    • Wolf, B.1    Gruber, S.2    Henglmueller, S.3    Kappel, S.4    Bergmann, M.5    Wrba, F.6    Karner-Hanusch, J.7
  • 24
    • 0028851542 scopus 로고
    • Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes
    • Buerstedde JM, Alday P, Torhorst J, Weber W, Muller H, Scott R. Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J Med Genet 1995;32:909-12.
    • (1995) J Med Genet , vol.32 , pp. 909-912
    • Buerstedde, J.M.1    Alday, P.2    Torhorst, J.3    Weber, W.4    Muller, H.5    Scott, R.6
  • 26
    • 31544454387 scopus 로고    scopus 로고
    • Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers
    • Zhang J, Lindroos A, Ollila S, Russell A, Marra G, Mueller H, et al. Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers. Cancer Res 2006;66:659-64.
    • (2006) Cancer Res , vol.66 , pp. 659-664
    • Zhang, J.1    Lindroos, A.2    Ollila, S.3    Russell, A.4    Marra, G.5    Mueller, H.6
  • 27
    • 0037096801 scopus 로고    scopus 로고
    • Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families
    • Wahlberg SS, Schmeits J, Thomas G, Loda M, Garber J, Syngal S, et al. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res 2002;62:3485-92.
    • (2002) Cancer Res , vol.62 , pp. 3485-3492
    • Wahlberg, S.S.1    Schmeits, J.2    Thomas, G.3    Loda, M.4    Garber, J.5    Syngal, S.6
  • 28
    • 34247278727 scopus 로고    scopus 로고
    • Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by cetuximab plus chemotherapy
    • Di Fiore F, Blanchard F, Charbonnier F, Le Pessot F, Lamy A, Galais MP, et al. Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by cetuximab plus chemotherapy. Br J Cancer 2007;96:1166-9.
    • (2007) Br J Cancer , vol.96 , pp. 1166-1169
    • Di Fiore, F.1    Blanchard, F.2    Charbonnier, F.3    Le Pessot, F.4    Lamy, A.5    Galais, M.P.6
  • 30
    • 33745977120 scopus 로고    scopus 로고
    • Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers
    • Murphy KM, Zhang S, Geiger T, Hafez MJ, Bacher J, Berg KD, Eshleman JR. Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers. J Mol Diagn 2006;8:305-11.
    • (2006) J Mol Diagn , vol.8 , pp. 305-311
    • Murphy, K.M.1    Zhang, S.2    Geiger, T.3    Hafez, M.J.4    Bacher, J.5    Berg, K.D.6    Eshleman, J.R.7
  • 31
    • 0037083628 scopus 로고    scopus 로고
    • Microsatellite instability phenotype of tumors: Genotyping or immunohistochemistry? The jury is still out. [Editorial]
    • de la Chapelle A. Microsatellite instability phenotype of tumors: genotyping or immunohistochemistry? The jury is still out. [Editorial]. J Clin Oncol 2002;20:897-9.
    • (2002) J Clin Oncol , vol.20 , pp. 897-899
    • de la Chapelle, A.1
  • 32
    • 8744314857 scopus 로고    scopus 로고
    • Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry
    • Muller A, Giuffre G, Edmonston TB, Mathiak M, Roggendorf B, Heinmoller E, et al. Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry. J Mol Diagn 2004;6:308-15.
    • (2004) J Mol Diagn , vol.6 , pp. 308-315
    • Muller, A.1    Giuffre, G.2    Edmonston, T.B.3    Mathiak, M.4    Roggendorf, B.5    Heinmoller, E.6
  • 33
    • 29744435357 scopus 로고    scopus 로고
    • Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining
    • Mangold E, Pagenstecher C, Friedl W, Fischer HP, Merkelbach-Bruse S, Ohlendorf M, et al. Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol 2005;207:385-95.
    • (2005) J Pathol , vol.207 , pp. 385-395
    • Mangold, E.1    Pagenstecher, C.2    Friedl, W.3    Fischer, H.P.4    Merkelbach-Bruse, S.5    Ohlendorf, M.6
  • 34
    • 0037332143 scopus 로고    scopus 로고
    • Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors
    • Hendriks Y, Franken P, Dierssen JW, De Leeuw W, Wijnen J, Dreef E, et al. Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol 2003;162:469-77.
    • (2003) Am J Pathol , vol.162 , pp. 469-477
    • Hendriks, Y.1    Franken, P.2    Dierssen, J.W.3    De Leeuw, W.4    Wijnen, J.5    Dreef, E.6
  • 35
    • 23044453645 scopus 로고    scopus 로고
    • Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer
    • Stormorken AT, Bowitz-Lothe IM, Noren T, Kure E, Aase S, Wijnen J, et al. Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. J Clin Oncol 2005;23:4705-12.
    • (2005) J Clin Oncol , vol.23 , pp. 4705-4712
    • Stormorken, A.T.1    Bowitz-Lothe, I.M.2    Noren, T.3    Kure, E.4    Aase, S.5    Wijnen, J.6
  • 36
    • 11144279281 scopus 로고    scopus 로고
    • Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms
    • Shia J, Klimstra DS, Nafa K, Offit K, Guillem JG, Markowitz AJ, et al. Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms. Am J Surg Pathol 2005;29:96-104.
    • (2005) Am J Surg Pathol , vol.29 , pp. 96-104
    • Shia, J.1    Klimstra, D.S.2    Nafa, K.3    Offit, K.4    Guillem, J.G.5    Markowitz, A.J.6
  • 37
    • 34548765471 scopus 로고    scopus 로고
    • Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer
    • Watson N, Grieu F, Morris M, Harvey J, Stewart C, Schofield L, et al. Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer. J Mol Diagn 2007;9:472-8.
    • (2007) J Mol Diagn , vol.9 , pp. 472-478
    • Watson, N.1    Grieu, F.2    Morris, M.3    Harvey, J.4    Stewart, C.5    Schofield, L.6
  • 38
    • 1542345490 scopus 로고    scopus 로고
    • Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?
    • Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M. Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer? Virchows Arch 2004;444:135-41.
    • (2004) Virchows Arch , vol.444 , pp. 135-141
    • Halvarsson, B.1    Lindblom, A.2    Rambech, E.3    Lagerstedt, K.4    Nilbert, M.5


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