MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with Microsatellite Instability

Disease Markers

Volumn 21, Issue 3, 2005, Pages 121-126

  Pastrello, Chiara ^a   Santarosa, Manuela ^a   Fornasarig, Mara ^a   Sigon, Roberto ^a   Perin, Tiziana ^a   Giannini, Giuseppe ^b   Boiocchi, Mauro ^a   Viel, Alessandra ^a  

^a CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Colon cancer; Mismatch repair; MSI; Mucin; VNTR

Indexed keywords

MUCIN; MUCIN 1; MUCIN 2; MUCIN 4; MUCIN 5AC;

ARTICLE; CLINICAL ARTICLE; COLON CARCINOMA; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HUMAN TISSUE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; NEOPLASM; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SOUTHERN BLOTTING; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 27644449333     PISSN: 02780240     EISSN: None     Source Type: Journal    
DOI: 10.1155/2005/370908     Document Type: Article

References (26)

1. S.E. Baldus and F.G. Hanisch, Biochemistry and pathological importance of mucin-associated antigens in gastrointestinal neoplasia, Adv Cancer Res 79 (2000), 201-248.
2. A. Bellacosa, Functional interactions and signaling properties of mammalian DNA mismatch repair proteins, Cell Death Differ 8 (2001), 1076-1092.
3. A.E. Biemer-Hüttmann, M.D. Walsh, M.A. McGuckin, L.A. Simms, J. Young, B.A. Leggett and J.R. Jass, Mucin core protein expression in colorectal cancers with high levels of microsatellite instability indicates a novel pathway of morphogenesis. Clin Cancer Res 6 (2000), 1909-1916.
4. R.C. Boland, S.N. Thibodeau, S.R. Hamilton, D. Sidransky, J.R. Eshleman, R.W. Burt, S.J. Meltzer, M.A. Rodriguez-Bigas, R. Fodde, G.N. Ranzani and S. Srivastava, 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.
5. S. Cortellino, D. Turner, V. Masciullo, F. Schepis, D. Albino, R. Daniel, A.M. Skalka, N.J. Meropol, C. Alberti, L. Larue and A. Bellacosa, The base excision repair enzyme MED1 mediates DNA damage response to antitumor drugs and is associated with mismatch repair system integrity, Proc Natl Acad Sci USA 25 (2003), 15071-15076.
6. A. Datta, M. Hendrix, M. Lipsitch and S. Jinks-Robertson, Dual roles for DNA sequence identity and the mismatch repair system in the regulation of mitotic crossing-over in yeast, Proc Natl Acad Sci USA 94 (1997), 9757-9762.
7. N. de Wind, M. Dekker, A. Berns, M. Radman and H. te Riele, Inactivation of the mouse MSH2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer, Cell 82 (1995), 321-330.
8. B. Elliott and M. Jasin, Repair of double-strand breaks by homologous recombination in mismatch repair-defective mammalian cells, Mol Cell Biol 21 (2001), 2671-2682.
9. J. Fowler, L. Vinall and D. Swallow, Polymorphism of the human MUC genes, Front Biosci 6 (2001), d1207-d1215.
10. G. Giannini, C. Rinaldi, E. Ristori, M.I. Ambrosini, F. Cerignoli, A. Viel, E. Bidoli, S. Berni, G. D'Amati, G. Scambia, L. Frati, I. Screpanti and A. Gulino, Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability, Oncogene 23 (2004), 2640-2647.
11. C. Hanski, Is mucinous carcinoma of the colorectum a distinct genetic entity? Br J Cancer 72 (1995), 1350-1356.
12. M.T. Hawn, A. Umar, J.M. Carethers, G. Marra, T.A. Kunkel, C.R. Boland and M. Koi, Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint, Cancer Res 17 (1995), 3721-3725.
13. J.G. Herman, A. Umar, K. Polyak, J.R. Graff, N. Ahuja, J.-P.J. Issa, S. Markowitz, J.K.V. Willson, S.R. Hamilton, K.W. Kinzler, M.F. Kane, R.D. Kolodner, B. Vogelstein, T.A. Kunkel and S.B. Baylin, Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma, Proc Natl Acad Sci USA 95 (1998), 6870-6875.
14. J. Jiricny and G. Marra, DNA repair defects in colon cancer, Curr Opin Genet Dev 13 (2003), 61-69.
15. S. Kakar, S. Aksoy, L.J. Burgart and T.C. Smyrk, Mucinous carcinoma of the colon: Correlation of loss of mismatch repair enzymes with clinicopathologic features and survival, Mod Pathol 17 (2004), 696-700.
16. H. Kim, J. Jen, B. Vogelstein and S.R. Hamilton, Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences, Am J Pathol 145 (1994), 148-156.
17. N.G. Kim, Y.R. Choi, M.J. Baek, Y.H. Kim, H. Kang, N.K. Kim, J.S. Min and H. Kim, Frameshift mutations at coding mononucleotide repeats of the hRAD50 gene in gastrointestinal carcinomas with microsatellite instability, Cancer Res 61 (2001), 36-38.
18. L. Messerini, F. Vitelli, L.R. De Vitis, S. Mori, A. Calzolari, R. Palmirotta, A. Calabrò and L. Papi, Microsatellite instability in sporadic mucinous colorectal carcinomas: Relationship to clinico-pathological variables, J Pathol 182 (1997), 380-384.
19. A. Mohindra, L.E. Hays, E.N. Phillips, B.D. Preston, T. Helleday and M. Meuth, Defects in homologous recombination repair in mismatch-repair-deficient tumour cell lines, Hum Mol Genet 11 (2002), 2189-2200.
20. N. Moniaux, F. Escande, N. Porchet, J.P. Aubert and S.K. Batra, Structural organization and classification of the human mucin genes, Front Biosci 6 (2001), d1192-d1206.
21. M. Radman, Mismatch repair and the fidelity of genetic recombination, Genome 1 (1989), 68-73.
22. E. Seregni, C. Botti, S. Massaron, C. Lombardo, A. Capobianco, A. Bogni and E. Bombardieri, Structure, function and gene expression of epithelial mucins, Tumori 83 (1997), 625-632.
23. N.W. Toribara, J.R. Gum, P.J. Culhane, R.E. Lagace, J.W. Hicks, G.M. Petersen and Y.S. Kim, MUC-2 human small intestinal mucin gene structure, J Clin Invest 88 (1991), 1005-1013.
24. A. Velcich, W.C. Yang, J. Heyer, A. Fragale, C. Nicholas, S. Viani, R. Kucherlapati, M. Lipkin, Y. Kan and L. Augenlicht, Colorectal cancer in mice genetically deficient in the mucin MUC2, Science 295 (2002), 1726-1729.
25. J.F. Villemure, C. Abaji, I. Cousineau and A. Belmaaza, MSH2-deficient human cells exhibit a defect in the accurate termination of homology-directed repair of DNA double-strand breaks, Cancer Res 63 (2003), 3334-3339.
26. H. Zhang, B. Richards, T. Wilson, M. Lloyd, A. Cranston, A. Thorburn, R. Fishel and M. Meuth, Apoptosis induced by overexpression of hMSH2 or hMLH1, Cancer Res 13 (1999), 3021-3027.