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DNA Mismatch Repair and Colon Cancer

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Genome Instability in Cancer Development

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 570))

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References

  • Aaltonen, L.A., P. Peltomäki, F.S. Leach, P. Sistonen, L. Pylkkanen, J.P. Mecklin, H. Jarvinen, S.M. Powell, J. Jen, S.R. Hamilton, and et al. 1993. Clues to the pathogenesis of familial colorectal cancer. Science. 260:812–6.

    CAS  PubMed  Google Scholar 

  • Abdel-Rahman, W.M., M. Ollikainen, R. Kariola, H.J. Järvinen, J-P. Mecklin, M. Nyström-Lahti, S. Knuutila, and P. Peltomäki. 2005a. Comprehensive characterization of HNPCCrelated colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations. Oncogene. 24:1–10.

    Google Scholar 

  • Abdel-Rahman, W.M., K. Katsura, W. Rens, P.A. Gorman, D. Sheer, D. Bicknell, W.F. Bodmer, M.J. Arends, A.H. Wyllie, and P.A.W. Edwards. 2001. Spectral karyotyping suggests additional subsets of colorectal cancers characterized by pattern of chromosome rearrangement. Proc Natl Acad Sci USA. 98:2538–2543.

    Article  CAS  PubMed  Google Scholar 

  • Abdel-Rahman, W.M., H. Lohi, S. Knuutila, and P. Peltomäki. 2005b. Restoring mismatch repair does not stop the formation of reciprocal translocations in the colon cancer cell line HCA7 but further destabilizes chromosome number. Oncogene. 24:706–713.

    CAS  PubMed  Google Scholar 

  • Acharya, S., P.L. Foster, P. Brooks, and R. Fishel. 2003. The coordinated functions of the E. coli MutS and MutL proteins in mismatch repair. Mol Cell. 12:233–46.

    Article  CAS  PubMed  Google Scholar 

  • Acharya, S., T. Wilson, S. Gradia, M.F. Kane, S. Guerrette, G.T. Marsischky, R. Kolodner, and R. Fishel. 1996. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc Natl Acad Sci U S A. 93:13629–34.

    Article  CAS  PubMed  Google Scholar 

  • Al-Tassan, N., N.H. Chmiel, J. Maynard, N. Fleming, A.L. Livingston, G.T. Williams, A.K. Hodges, D.R. Davies, S.S. David, J.R. Sampson, and J.P. Cheadle. 2002. Inherited variants of MYH associated with somatic G:C—>T:A mutations in colorectal tumors. Nat Genet. 30:227–32.

    Article  CAS  PubMed  Google Scholar 

  • Alam, N.A., P. Gorman, E.E. Jaeger, D. Kelsell, I.M. Leigh, R. Ratnavel, M.E. Murdoch, R.S. Houlston, L.A. Aaltonen, R.R. Roylance, and I.P. Tomlinson. 2003. Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Cancer Genet Cytogenet. 147:121–7.

    Article  CAS  PubMed  Google Scholar 

  • Alani, E., T. Sokolsky, B. Studamire, J.J. Miret, and R.S. Lahue. 1997. Genetic and biochemical analysis of Msh2p-Msh6p: role of ATP hydrolysis and Msh2p-Msh6p subunit interactions in mismatch base pair recognition. Mol Cell Biol. 17:2436–47.

    CAS  PubMed  Google Scholar 

  • Allen, D.J., A. Makhov, M. Grilley, J. Taylor, R. Thresher, P. Modrich, and J.D. Griffith. 1997. MutS mediates heteroduplex loop formation by a translocation mechanism. EMBO J. 16:4467–76.

    Article  CAS  PubMed  Google Scholar 

  • Amin, N.S., M.N. Nguyen, S. Oh, and R.D. Kolodner. 2001. exo1-Dependent mutator mutations: model system for studying functional interactions in mismatch repair. Mol Cell Biol. 21:5142–55.

    Article  CAS  PubMed  Google Scholar 

  • Aronshtam, A., and M.G. Marinus. 1996. Dominant negative mutator mutations in the mutL gene of Escherichia coli. Nucleic Acids Res. 24:2498–504.

    Article  CAS  PubMed  Google Scholar 

  • Bailey, J.A., Z. Gu, R.A. Clark, K. Reinert, R.V. Samonte, S. Schwartz, M.D. Adams, E.W. Myers, P.W. Li, and E.E. Eichler. 2002. Recent segmental duplications in the human genome. Science. 297:1003–7.

    Article  CAS  PubMed  Google Scholar 

  • Ban, C., M. Junop, and W. Yang. 1999. Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair. Cell. 97:85–97.

    Article  CAS  PubMed  Google Scholar 

  • Ban, C., and W. Yang. 1998. Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesis. Cell. 95:541–52.

    Article  CAS  PubMed  Google Scholar 

  • Baranovskaya, S., J.L. Soto, M. Perucho, and S.R. Malkhosyan. 2001. Functional significance of concomitant inactivation of hMLH1 and hMSH6 in tumor cells of the microsatellite mutator phenotype. Proc Natl Acad Sci U S A. 98:15107–12.

    Article  CAS  PubMed  Google Scholar 

  • Bellacosa, A., L. Cicchillitti, F. Schepis, A. Riccio, A.T. Yeung, Y. Matsumoto, E.A. Golemis, M. Genuardi, and G. Neri. 1999. MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. Proc Natl Acad Sci U S A. 96:3969–74.

    Article  CAS  PubMed  Google Scholar 

  • Bhagwat, A.S., and M. Lieb. 2002. Cooperation and competition in mismatch repair: very short-patch repair and methyl-directed mismatch repair in Escherichia coli. Mol Microbiol. 44:1421–8.

    Article  CAS  PubMed  Google Scholar 

  • Bicknell, D.C., L. Kaklamanis, R. Hampson, W.F. Bodmer, and P. Karran. 1996. Selection for beta 2-microglobulin mutation in mismatch repair-defective colorectal carcinomas. Curr Biol. 6:1695–7.

    Article  CAS  PubMed  Google Scholar 

  • Blackwell, L.J., D. Martik, K.P. Bjornson, E.S. Bjornson, and P. Modrich. 1998. Nucleotide-promoted release of hMutSalpha from heteroduplex DNA is consistent with an ATP-dependent translocation mechanism. J Biol Chem. 273:32055–62.

    CAS  PubMed  Google Scholar 

  • Bocker, T., J. Schlegel, F. Kullmann, G. Stumm, H. Zirngibl, J.T. Epplen, and J. Ruschoff. 1996. Genomic instability in colorectal carcinomas: comparison of different evaluation methods and their biological significance. J Pathol. 179:15–9.

    Article  CAS  PubMed  Google Scholar 

  • Bowers, J., T. Sokolsky, T. Quach, and E. Alani. 1999. A mutation in the MSH6 subunit of the Saccharomyces cerevisiae MSH2-MSH6 complex disrupts mismatch recognition. J Biol Chem. 274:16115–25.

    Article  CAS  PubMed  Google Scholar 

  • Bowers, J., P.T. Tran, A. Joshi, R.M. Liskay, and E. Alani. 2001. MSH-MLH complexes formed at a DNA mismatch are disrupted by the PCNA sliding clamp. J Mol Biol. 306:957–68.

    Article  CAS  PubMed  Google Scholar 

  • Bronner, C.E., S.M. Baker, P.T. Morrison, G. Warren, L.G. Smith, M.K. Lescoe, M. Kane, C. Earabino, J. Lipford, A. Lindblom, and et al. 1994. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 368:258–61.

    Article  CAS  PubMed  Google Scholar 

  • Camps, J., C. Morales, E. Prat, M. Ribas, G. Capella, J. Egozcue, M.A. Peinado, and R. Miro. 2004. Genetic evolution in colon cancer KM12 cells and metastatic derivates. Int J Cancer. 110:869–74.

    Article  CAS  PubMed  Google Scholar 

  • Chan, T.L., L.C. Curtis, S.Y. Leung, S.M. Farrington, J.W. Ho, A.S. Chan, P.W. Lam, C.W. Tse, M.G. Dunlop, A.H. Wyllie, and S.T. Yuen. 2001. Early-onset colorectal cancer with stable microsatellite DNA and near-diploid chromosomes. Oncogene. 20:4871–4876.

    CAS  PubMed  Google Scholar 

  • Chang, D.K., L. Ricciardiello, A. Goel, C.L. Chang, and C.R. Boland. 2000. Steady-state regulation of the human DNA mismatch repair system. J Biol Chem. 275:18424–31.

    CAS  PubMed  Google Scholar 

  • Chen, C., B.J. Merrill, P.J. Lau, C. Holm, and R.D. Kolodner. 1999. Saccharomyces cerevisiae pol30 (proliferating cell nuclear antigen) mutations impair replication fidelity and mismatch repair. Mol Cell Biol. 19:7801–15.

    CAS  PubMed  Google Scholar 

  • Ciotta, C., S. Ceccotti, G. Aquilina, O. Humbert, F. Palombo, J. Jiricny, and M. Bignami. 1998. Increased somatic recombination in methylation tolerant human cells with defective DNA mismatch repair. J Mol Biol. 276:705–19.

    Article  CAS  PubMed  Google Scholar 

  • Clark, A.B., F. Valle, K. Drotschmann, R.K. Gary, and T.A. Kunkel. 2000. Functional interaction of proliferating cell nuclear antigen with MSH2-MSH6 and MSH2-MSH3 complexes. J Biol Chem. 275:36498–501.

    CAS  PubMed  Google Scholar 

  • de Jong, A.E., H. Morreau, M. Van Puijenbroek, P.H. Eilers, J. Wijnen, F.M. Nagengast, G. Griffioen, A. Cats, F.H. Menko, J.H. Kleibeuker, and H.F. Vasen. 2004a. The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology. 126:42–8.

    PubMed  Google Scholar 

  • de Jong, A.E., M. van Puijenbroek, Y. Hendriks, C. Tops, J. Wijnen, M.G. Ausems, H. Meijers-Heijboer, A. Wagner, T.A. van Os, A.H. Brocker-Vriends, H.F. Vasen, and H. Morreau. 2004b. Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res. 10:972–80.

    PubMed  Google Scholar 

  • De Rosa, M., C. Fasano, L. Panariello, M.I. Scarano, G. Belli, A. Iannelli, F. Ciciliano, and P. Izzo. 2000. Evidence for a recessive inheritance of Turcot’s syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene. 19:1719–23.

    PubMed  Google Scholar 

  • De Vos, M., B.E. Hayward, S. Picton, E. Sheridan, and D.T. Bonthron. 2004. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet. 74:954–64.

    PubMed  Google Scholar 

  • Drotschmann, K., A. Aronshtam, H.J. Fritz, and M.G. Marinus. 1998. The Escherichia coli MutL protein stimulates binding of Vsr and MutS to heteroduplex DNA. Nucleic Acids Res. 26:948–53.

    Article  CAS  PubMed  Google Scholar 

  • Drummond, J.T., J. Genschel, E. Wolf, and P. Modrich. 1997. DHFR/MSH3 amplification in methotrexate-resistant cells alters the hMutSalpha/hMutSbeta ratio and reduces the efficiency of base-base mismatch repair. Proc Natl Acad Sci U S A. 94:10144–9.

    Article  CAS  PubMed  Google Scholar 

  • Drummond, J.T., G.M. Li, M.J. Longley, and P. Modrich. 1995. Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science. 268:1909–12.

    CAS  PubMed  Google Scholar 

  • Dufner, P., G. Marra, M. Räschle, and J. Jiricny. 2000. Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit. J Biol Chem. 275:36550–5.

    Article  CAS  PubMed  Google Scholar 

  • Duval, A., J. Gayet, X.P. Zhou, B. Iacopetta, G. Thomas, and R. Hamelin. 1999. Frequent frameshift mutations of the TCF-4 gene in colorectal cancers with microsatellite instability. Cancer Res. 59:4213–5.

    CAS  PubMed  Google Scholar 

  • Dzantiev, L., N. Constantin, J. Genschel, R.R. Iyer, P.M. Burgers, and P. Modrich. 2004. A defined human system that supports bidirectional mismatch-provoked excision. Mol Cell. 15:31–41.

    Article  CAS  PubMed  Google Scholar 

  • Echols, H., and M.F. Goodman. 1991. Fidelity mechanisms in DNA replication. Annu Rev Biochem. 60:477–511.

    Article  CAS  PubMed  Google Scholar 

  • Ejima, Y., L. Yang, and M.S. Sasaki. 2000. Aberrant splicing of the ATM gene associated with shortening of the intronic mononucleotide tract in human colon tumor cell lines: a novel mutation target of microsatellite instability. Int J Cancer. 86:262–8.

    Article  CAS  PubMed  Google Scholar 

  • Fang, W.H., and P. Modrich. 1993. Human strand-specific mismatch repair occurs by a bidirectional mechanism similar to that of the bacterial reaction. J Biol Chem. 268:11838–44.

    CAS  PubMed  Google Scholar 

  • Fang, Y., C.C. Tsao, B.K. Goodman, R. Furumai, C.A. Tirado, R.T. Abraham, and X.F. Wang. 2004. ATR functions as a gene dosage-dependent tumor suppressor on a mismatch repair-deficient background. EMBO J. 23:3164–74.

    Article  CAS  PubMed  Google Scholar 

  • Fishel, R., M.K. Lescoe, M.R. Rao, N.G. Copeland, N.A. Jenkins, J. Garber, M. Kane, and R. Kolodner. 1993. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 75:1027–38.

    Article  CAS  PubMed  Google Scholar 

  • Flores-Rozas, H., D. Clark, and R.D. Kolodner. 2000. Proliferating cell nuclear antigen and Msh2p-Msh6p interact to form an active mispair recognition complex. Nat Genet. 26:375–8.

    CAS  PubMed  Google Scholar 

  • Flores-Rozas, H., Z. Kelman, F.B. Dean, Z.Q. Pan, J.W. Harper, S.J. Elledge, M. O’Donnell, and J. Hurwitz. 1994. Cdk-interacting protein 1 directly binds with proliferating cell nuclear antigen and inhibits DNA replication catalyzed by the DNA polymerase delta holoenzyme. Proc Natl Acad Sci U S A. 91:8655–9.

    CAS  PubMed  Google Scholar 

  • Flores-Rozas, H., and R.D. Kolodner. 1998. The Saccharomyces cerevisiae MLH3 gene functions in MSH3-dependent suppression of frameshift mutations. Proc Natl Acad Sci U S A. 95:12404–9.

    Article  CAS  PubMed  Google Scholar 

  • Fujii, H., and T. Shimada. 1989. Isolation and characterization of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene. J Biol Chem. 264:10057–64.

    CAS  PubMed  Google Scholar 

  • Gallinger, S., M. Aronson, K. Shayan, E.M. Ratcliffe, J.T. Gerstle, P.C. Parkin, H. Rothenmund, M. Croitoru, E. Baumann, P.R. Durie, R. Weksberg, A. Pollett, R.H. Riddell, B.Y. Ngan, E. Cutz, A.E. Lagarde, and H.S. Chan. 2004. Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology. 126:576–85.

    Article  CAS  PubMed  Google Scholar 

  • Gazzoli, I., M. Loda, J. Garber, S. Syngal, and R.D. Kolodner. 2002. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res. 62:3925–8.

    CAS  PubMed  Google Scholar 

  • Genschel, J., L.R. Bazemore, and P. Modrich. 2002. Human exonuclease I is required for 5′ and 3′ mismatch repair. J Biol Chem. 277:13302–11.

    Article  CAS  PubMed  Google Scholar 

  • Genschel, J., S.J. Littman, J.T. Drummond, and P. Modrich. 1998. Isolation of MutSbeta from human cells and comparison of the mismatch repair specificities of MutSbeta and MutSalpha. J Biol Chem. 273:19895–901.

    Article  CAS  PubMed  Google Scholar 

  • Genschel, J., and P. Modrich. 2003. Mechanism of 5′-directed excision in human mismatch repair. Mol Cell. 12:1077–86.

    Article  CAS  PubMed  Google Scholar 

  • Georgiades, I.B., L.J. Curtis, R.M. Morris, C.C. Bird, and A.H. Wyllie. 1999. Heterogeneity studies identify a subset of sporadic colorectal cancers without evidence for chromosomal or microsatellite instability. Oncogene. 18:7933–40.

    CAS  PubMed  Google Scholar 

  • Giannini, G., 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. 2004. Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability. Oncogene. 23:2640–7.

    Article  CAS  PubMed  Google Scholar 

  • Goel, A., C.N. Arnold, D. Niedzwiecki, D.K. Chang, L. Ricciardiello, J.M. Carethers, J.M. Dowell, L. Wasserman, C. Compton, R.J. Mayer, M.M. Bertagnolli, and C.R. Boland. 2003. Characterization of sporadic colon cancer by patterns of genomic instability. Cancer Res. 63:1608–14.

    CAS  PubMed  Google Scholar 

  • Gradia, S., S. Acharya, and R. Fishel. 1997. The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch. Cell. 91:995–1005.

    Article  CAS  PubMed  Google Scholar 

  • Grady, W.M. 2004. Genomic instability and colon cancer. Cancer Metastasis Rev. 23:11–27.

    Article  CAS  PubMed  Google Scholar 

  • Gryfe, R., H. Kim, E.T. Hsieh, M.D. Aronson, E.J. Holowaty, S.B. Bull, M. Redston, and S. Gallinger. 2000. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med. 342:69–77.

    Article  CAS  PubMed  Google Scholar 

  • Guarne, A., S. Ramon-Maiques, E.M. Wolff, R. Ghirlando, X. Hu, J.H. Miller, and W. Yang. 2004. Structure of the MutL C-terminal domain: a model of intact MutL and its roles in mismatch repair. EMBO J. 23:4134–45.

    CAS  PubMed  Google Scholar 

  • Guerrette, S., T. Wilson, S. Gradia, and R. Fishel. 1998. Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol. 18:6616–23.

    CAS  PubMed  Google Scholar 

  • Guo, S., S.R. Presnell, F. Yuan, Y. Zhang, L. Gu, and G.M. Li. 2004. Differential requirement for proliferating cell nuclear antigen in 5′ and 3′ nick-directed excision in human mismatch repair. J Biol Chem. 279:16912–7.

    CAS  PubMed  Google Scholar 

  • Haber, L.T., and G.C. Walker. 1991. Altering the conserved nucleotide binding motif in the Salmonella typhimurium MutS mismatch repair protein affects both its ATPase and mismatch binding activities. EMBO J. 10:2707–15.

    CAS  PubMed  Google Scholar 

  • Haigis, K.M., J.G. Caya, M. Reichelderfer, and W.F. Dove. 2002. Intestinal adenomas can develop with a stable karyotype and stable microsatellites. Proc Natl Acad Sci U S A. 99:8927–31.

    CAS  PubMed  Google Scholar 

  • Hamilton, S.R., B. Liu, R.E. Parsons, N. Papadopoulos, J. Jen, S.M. Powell, A.J. Krush, T. Berk, Z. Cohen, B. Tetu, and et al. 1995. The molecular basis of Turcot’s syndrome. N Engl J Med. 332:839–47.

    Article  CAS  PubMed  Google Scholar 

  • Hardeland, U., M. Bentele, J. Jiricny, and P. Schär. 2003. The versatile thymine DNA-glycosylase: a comparative characterization of the human, Drosophila and fission yeast orthologs. Nucleic Acids Res. Vol. 31. 2261–71.

    Article  CAS  PubMed  Google Scholar 

  • Harfe, B.D., and S. Jinks-Robertson. 2000. Mismatch repair proteins and mitotic genome stability. Mutat Res. 451:151–67.

    CAS  PubMed  Google Scholar 

  • Harfe, B.D., B.K. Minesinger, and S. Jinks-Robertson. 2000. Discrete in vivo roles for the MutL homologs Mlh2p and Mlh3p in the removal of frameshift intermediates in budding yeast. Curr Biol. 10:145–8.

    Article  CAS  PubMed  Google Scholar 

  • Hawkins, N.J., I. Tomlinson, A. Meagher, and R.L. Ward. 2001. Microsatellite-stable diploid carcinoma: a biologically distinct and aggressive subset of sporadic colorectal cancer. Br J Cancer. 84:232–6.

    Article  CAS  PubMed  Google Scholar 

  • Hendrich, B., and A. Bird. 1998. Identification and characterization of a family of mammalian methyl-CpG binding proteins. Mol Cell Biol. 18:6538–47.

    CAS  PubMed  Google Scholar 

  • Hendrich, B., U. Hardeland, H.H. Ng, J. Jiricny, and A. Bird. 1999. The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites. Nature. 401:301–4.

    CAS  PubMed  Google Scholar 

  • Hendriks, Y.M., A. Wagner, H. Morreau, F. Menko, A. Stormorken, F. Quehenberger, L. Sandkuijl, P. Moller, M. Genuardi, H. Van Houwelingen, C. Tops, M. Van Puijenbroek, P. Verkuijlen, G. Kenter, A. Van Mil, H. Meijers-Heijboer, G.B. Tan, M.H. Breuning, R. Fodde, J.T. Wijnen, A.H. Brocker-Vriends, and H. Vasen. 2004. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 127:17–25.

    Article  CAS  PubMed  Google Scholar 

  • Her, C., A.T. Vo, and X. Wu. 2002. Evidence for a direct association of hMRE11 with the human mismatch repair protein hMLH1. DNA Repair (Amst). 1:719–29.

    CAS  Google Scholar 

  • Herman, J.G., A. Umar, K. Polyak, J.R. Graff, N. Ahuja, J.P. Issa, S. Markowitz, J.K. Willson, S.R. Hamilton, K.W. Kinzler, M.F. Kane, R.D. Kolodner, B. Vogelstein, T.A. Kunkel, and S.B. Baylin. 1998. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A. 95:6870–5.

    Article  CAS  PubMed  Google Scholar 

  • Hienonen, T., P. Laiho, R. Salovaara, J.P. Mecklin, H. Jarvinen, P. Sistonen, P. Peltomäki, R. Lehtonen, N.N. Nupponen, V. Launonen, A. Karhu, and L.A. Aaltonen. 2003. Little evidence for involvement of MLH3 in colorectal cancer predisposition. Int J Cancer. 106:292–6.

    Article  CAS  PubMed  Google Scholar 

  • Hoeijmakers, J.H. 2001. Genome maintenance mechanisms for preventing cancer. Nature. 411:366–74.

    Article  CAS  PubMed  Google Scholar 

  • Hollstein, M., D. Sidransky, B. Vogelstein, and C.C. Harris. 1991. p53 mutations in human cancers. Science. Vol. 253. 49–53.

    CAS  PubMed  Google Scholar 

  • Holmes, J., Jr., S. Clark, and P. Modrich. 1990. Strand-specific mismatch correction in nuclear extracts of human and Drosophila melanogaster cell lines. Proc Natl Acad Sci U S A. 87:5837–41.

    CAS  PubMed  Google Scholar 

  • Hübscher, U., G. Maga, and S. Spadari. 2002. Eukaryotic DNA polymerases. Annu Rev Biochem. 71:133–63.

    PubMed  Google Scholar 

  • Hübscher, U., and Y.S. Seo. 2001. Replication of the lagging strand: a concert of at least 23 polypeptides. Mol Cells. 12:149–57.

    PubMed  Google Scholar 

  • Hughes, M.J., and J. Jiricny. 1992. The purification of a human mismatch-binding protein and identification of its associated ATPase and helicase activities. J Biol Chem. 267:23876–82.

    CAS  PubMed  Google Scholar 

  • Iaccarino, I., G. Marra, P. Dufner, and J. Jiricny. 2000. Mutation in the magnesium binding site of hMSH6 disables the hMutSalpha sliding clamp from translocating along DNA. J Biol Chem. 275:2080–6.

    Article  CAS  PubMed  Google Scholar 

  • Iaccarino, I., G. Marra, F. Palombo, and J. Jiricny. 1998. hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha. EMBO J. 17:2677–86.

    Article  CAS  PubMed  Google Scholar 

  • Iams, K., E.D. Larson, and J.T. Drummond. 2002. DNA template requirements for human mismatch repair in vitro. J Biol Chem. 277:30805–14.

    Article  CAS  PubMed  Google Scholar 

  • Ionov, Y., M.A. Peinado, S. Malkhosyan, D. Shibata, and M. Perucho. 1993. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature. 363:558–61.

    Article  CAS  PubMed  Google Scholar 

  • Jacoby, R.F., D.J. Marshall, S. Kailas, S. Schlack, B. Harms, and R. Love. 1995. Genetic instability associated with adenoma to carcinoma progression in hereditary nonpolyposis colon cancer. Gastroenterology. 109:73–82.

    Article  CAS  PubMed  Google Scholar 

  • Jass, J.R. 2000. Familial colorectal cancer: pathology and molecular characteristics. Lancet Oncol. 1:220–6.

    Article  CAS  PubMed  Google Scholar 

  • Jass, J.R., V.L. Whitehall, J. Young, and B.A. Leggett. 2002. Emerging concepts in colorectal neoplasia. Gastroenterology. 123:862–76.

    Article  CAS  PubMed  Google Scholar 

  • Jiricny, J. 1998. Replication errors: cha(lle)nging the genome. EMBO J. 17:6427–36.

    Article  CAS  PubMed  Google Scholar 

  • Jiricny, J. 2000. Mismatch repair: the praying hands of fidelity. Curr Biol. 10:R788–90.

    Article  CAS  PubMed  Google Scholar 

  • Jiricny, J., M. Hughes, N. Corman, and B.B. Rudkin. 1988. A human 200-kDa protein binds selectively to DNA fragments containing G.T mismatches. Proc Natl Acad Sci U S A. 85:8860–4.

    CAS  PubMed  Google Scholar 

  • Jiricny, J., and G. Marra. 2003. DNA repair defects in colon cancer. Curr Opin Genet Dev. 13:61–9.

    Article  CAS  PubMed  Google Scholar 

  • Johnson, R.E., G.K. Kovvali, S.N. Guzder, N.S. Amin, C. Holm, Y. Habraken, P. Sung, L. Prakash, and S. Prakash. 1996. Evidence for involvement of yeast proliferating cell nuclear antigen in DNA mismatch repair. J Biol Chem. 271:27987–90.

    CAS  PubMed  Google Scholar 

  • Junop, M.S., G. Obmolova, K. Rausch, P. Hsieh, and W. Yang. 2001. Composite active site of an ABC ATPase: MutS uses ATP to verify mismatch recognition and authorize DNA repair. Mol Cell. 7:1–12.

    Article  CAS  PubMed  Google Scholar 

  • Kim, H., J. Jen, B. Vogelstein, and S.R. Hamilton. 1994. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol. 145:148–56.

    CAS  PubMed  Google Scholar 

  • Kirchner, J.M., H. Tran, and M.A. Resnick. 2000. A DNA polymerase epsilon mutant that specifically causes +1 frameshift mutations within homonucleotide runs in yeast. Genetics. 155:1623–32.

    CAS  PubMed  Google Scholar 

  • Kleczkowska, H.E., G. Marra, T. Lettieri, and J. Jiricny. 2001. hMSH3 and hMSH6 interact with PCNA and colocalize with it to replication foci. Genes Dev. 15:724–36.

    Article  CAS  PubMed  Google Scholar 

  • Kokoska, R.J., L. Stefanovic, A.B. Buermeyer, R.M. Liskay, and T.D. Petes. 1999. A mutation of the yeast gene encoding PCNA destabilizes both microsatellite and minisatellite DNA sequences. Genetics. 151:511–9.

    CAS  PubMed  Google Scholar 

  • Kolodner, R.D., and G.T. Marsischky. 1999. Eukaryotic DNA mismatch repair. Curr Opin Genet Dev. 9:89–96.

    Article  CAS  PubMed  Google Scholar 

  • Kramer, B., W. Kramer, and H.J. Fritz. 1984. Different base/base mismatches are corrected with different efficiencies by the methyl-directed DNA mismatch-repair system of E. coli. Cell. 38:879–87.

    CAS  PubMed  Google Scholar 

  • Kunkel, T.A., and K. Bebenek. 2000. DNA replication fidelity. Annu Rev Biochem. 69:497–529.

    Article  CAS  PubMed  Google Scholar 

  • Laghi, L., G.N. Ranzani, P. Bianchi, A. Mori, K. Heinimann, O. Orbetegli, M.R. Spaudo, O. Luinetti, S. Francisconi, M. Roncalli, E. Solcia, and A. Malesci. 2002. Frameshift mutations of human gastrin receptor gene (hGARE) in gastrointestinal cancers with microsatellite instability. Lab Invest. 82:265–71.

    CAS  PubMed  Google Scholar 

  • Lamers, M.H., A. Perrakis, J.H. Enzlin, H.H. Winterwerp, N. de Wind, and T.K. Sixma. 2000. The crystal structure of DNA mismatch repair protein MutS binding to a G x T mismatch. Nature. 407:711–7.

    CAS  PubMed  Google Scholar 

  • Langland, G., J. Kordich, J. Creaney, K.H. Goss, K. Lillard-Wetherell, K. Bebenek, T.A. Kunkel, and J. Groden. 2001. The Bloom’s syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair. J Biol Chem. 276:30031–5.

    Article  CAS  PubMed  Google Scholar 

  • Lau, P.J., and R.D. Kolodner. 2003. Transfer of the MSH2.MSH6 complex from proliferating cell nuclear antigen to mispaired bases in DNA. J Biol Chem. 278:14–7.

    Article  CAS  PubMed  Google Scholar 

  • Leach, F.S., N.C. Nicolaides, N. Papadopoulos, B. Liu, J. Jen, R. Parsons, P. Peltomaki, P. Sistonen, L.A. Aaltonen, M. Nystrom-Lahti, and et al. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 75:1215–25.

    Article  CAS  PubMed  Google Scholar 

  • Lee, B.I., and D.M. Wilson, 3rd. 1999. The RAD2 domain of human exonuclease 1 exhibits 5′ to 3′ exonuclease and flap structure-specific endonuclease activities. J Biol Chem. 274:37763–9.

    CAS  PubMed  Google Scholar 

  • Lengauer, C., K.W. Kinzler, and B. Vogelstein. 1997. Genetic instability in colorectal cancers. Nature. 386:623–7.

    Article  CAS  PubMed  Google Scholar 

  • Lengauer, C., K.W. Kinzler, and B. Vogelstein. 1998. Genetic instabilities in human cancers. Nature. 396:643–9.

    Article  CAS  PubMed  Google Scholar 

  • Li, G.M., and P. Modrich. 1995. Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. Proc Natl Acad Sci U S A. 92:1950–4.

    CAS  PubMed  Google Scholar 

  • Li, R., S. Waga, G.J. Hannon, D. Beach, and B. Stillman. 1994. Differential effects by the p21 CDK inhibitor on PCNA-dependent DNA replication and repair. Nature. 371:534–7.

    Article  CAS  PubMed  Google Scholar 

  • Li, Y.C., A.B. Korol, T. Fahima, and E. Nevo. 2004. Microsatellites within genes: structure, function, and evolution. Mol Biol Evol. 21:991–1007.

    CAS  PubMed  Google Scholar 

  • Lin, Y.L., M.K. Shivji, C. Chen, R. Kolodner, R.D. Wood, and A. Dutta. 1998. The evolutionarily conserved zinc finger motif in the largest subunit of human replication protein A is required for DNA replication and mismatch repair but not for nucleotide excision repair. J Biol Chem. 273:1453–61.

    CAS  PubMed  Google Scholar 

  • Lindblom, A., P. Tannergard, B. Werelius, and M. Nordenskjold. 1993. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet. 5:279–82.

    Article  CAS  PubMed  Google Scholar 

  • Lindgren, G., A. Liljegren, E. Jaramillo, C. Rubio, and A. Lindblom. 2002. Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer. Gut. 50:228–34.

    Article  CAS  PubMed  Google Scholar 

  • Lindor, N.M., L.J. Burgart, O. Leontovich, R.M. Goldberg, J.M. Cunningham, D.J. Sargent, C. Walsh-Vockley, G.M. Petersen, M.D. Walsh, B.A. Leggett, J.P. Young, M.A. Barker, J.R. Jass, J. Hopper, S. Gallinger, B. Bapat, M. Redston, and S.N. Thibodeau. 2002. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol. 20:1043–8.

    Article  CAS  PubMed  Google Scholar 

  • Linton, J.P., J.Y. Yen, E. Selby, Z. Chen, J.M. Chinsky, K. Liu, R.E. Kellems, and G.F. Crouse. 1989. Dual bidirectional promoters at the mouse dhfr locus: cloning and characterization of two mRNA classes of the divergently transcribed Rep-1 gene. Mol Cell Biol. 9:3058–72.

    CAS  PubMed  Google Scholar 

  • Lipkin, S.M., V. Wang, R. Jacoby, S. Banerjee-Basu, A.D. Baxevanis, H.T. Lynch, R.M. Elliott, and F.S. Collins. 2000. MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet. 24:27–35.

    CAS  PubMed  Google Scholar 

  • Liu, W., X. Dong, M. Mai, R.S. Seelan, K. Taniguchi, K.K. Krishnadath, K.C. Halling, J.M. Cunningham, L.A. Boardman, C. Qian, E. Christensen, S.S. Schmidt, P.C. Roche, D.I. Smith, and S.N. Thibodeau. 2000. Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet. 26:146–7.

    Article  CAS  PubMed  Google Scholar 

  • Loeb, L.A. 1991. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res. 51:3075–9.

    CAS  PubMed  Google Scholar 

  • Longley, M.J., A.J. Pierce, and P. Modrich. 1997. DNA polymerase delta is required for human mismatch repair in vitro. J Biol Chem. 272:10917–21.

    CAS  PubMed  Google Scholar 

  • Losi, L., M. Ponz de Leon, J. Jiricny, C. Di Gregorio, P. Benatti, A. Percesepe, R. Fante, L. Roncucci, M. Pedroni, and J. Benhattar. 1997. K-ras and p53 mutations in hereditary non-polyposis colorectal cancers. Int J Cancer. Vol. 74. 94–6.

    Article  CAS  PubMed  Google Scholar 

  • Lynch, H.T., T. Smyrk, and J.F. Lynch. 1996. Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome). Int J Cancer. 69:38–43.

    Article  CAS  PubMed  Google Scholar 

  • Lynch, H.T., T.C. Smyrk, P. Watson, S.J. Lanspa, J.F. Lynch, P.M. Lynch, R.J. Cavalieri, and C.R. Boland. 1993. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology. 104:1535–49.

    CAS  PubMed  Google Scholar 

  • Maehara, Y., S. Oda, and K. Sugimachi. 2001. The instability within: problems in current analyses of microsatellite instability. Mutat Res. 461:249–63.

    CAS  PubMed  Google Scholar 

  • Malkhosyan, S., N. Rampino, H. Yamamoto, and M. Perucho. 1996. Frameshift mutator mutations. Nature. 382:499–500.

    Article  CAS  PubMed  Google Scholar 

  • Malkov, V.A., I. Biswas, R.D. Camerini-Otero, and P. Hsieh. 1997. Photocross-linking of the NH2-terminal region of Taq MutS protein to the major groove of a heteroduplex DNA. J Biol Chem. 272:23811–7.

    Article  CAS  PubMed  Google Scholar 

  • Markowitz, S., J. Wang, L. Myeroff, R. Parsons, L. Sun, J. Lutterbaugh, R.S. Fan, E. Zborowska, K.W. Kinzler, B. Vogelstein, and et al. 1995. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science. 268:1336–8.

    CAS  PubMed  Google Scholar 

  • Marra, G., and C.R. Boland. 1995. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst. 87:1114–25.

    CAS  PubMed  Google Scholar 

  • Marra, G., I. Iaccarino, T. Lettieri, G. Roscilli, P. Delmastro, and J. Jiricny. 1998. Mismatch repair deficiency associated with overexpression of the MSH3 gene. Proc Natl Acad Sci U S A. 95:8568–73.

    Article  CAS  PubMed  Google Scholar 

  • Marra, G., and P. Schär. 1999. Recognition of DNA alterations by the mismatch repair system. Biochem J. 338 (Pt 1):1–13.

    Article  CAS  PubMed  Google Scholar 

  • Marti, T.M., C. Kunz, and O. Fleck. 2002. DNA mismatch repair and mutation avoidance pathways. J Cell Physiol. 191:28–41.

    Article  CAS  PubMed  Google Scholar 

  • Mechanic, L.E., B.A. Frankel, and S.W. Matson. 2000. Escherichia coli MutL loads DNA helicase II onto DNA. J Biol Chem. 275:38337–46.

    Article  CAS  PubMed  Google Scholar 

  • Menoyo, A., H. Alazzouzi, E. Espin, M. Armengol, H. Yamamoto, and S. Schwartz, Jr. 2001. Somatic mutations in the DNA damage-response genes ATR and CHK1 in sporadic stomach tumors with microsatellite instability. Cancer Res. 61:7727–30.

    CAS  PubMed  Google Scholar 

  • Miyaki, M., J. Nishio, M. Konishi, R. Kikuchi-Yanoshita, K. Tanaka, M. Muraoka, M. Nagato, J.M. Chong, M. Koike, T. Terada, Y. Kawahara, A. Fukutome, J. Tomiyama, Y. Chuganji, M. Momoi, and J. Utsunomiya. 1997. Drastic genetic instability of tumors and normal tissues in Turcot syndrome. Oncogene. 15:2877–81.

    Article  CAS  PubMed  Google Scholar 

  • Miyakura, Y., K. Sugano, T. Akasu, T. Yoshida, M. Maekawa, S. Saitoh, H. Sasaki, T. Nomizu, F. Konishi, S. Fujita, Y. Moriya, and H. Nagai. 2004. Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clin Gastroenterol Hepatol. 2:147–56.

    Article  CAS  PubMed  Google Scholar 

  • Modrich, P., and R. Lahue. 1996. Mismatch repair in replication fidelity, genetic recombination, and cancer biology. Annu Rev BioChem. 65:101–33.

    Article  CAS  PubMed  Google Scholar 

  • Mori, Y., J. Yin, A. Rashid, B.A. Leggett, J. Young, L. Simms, P.M. Kuehl, P. Langenberg, S.J. Meltzer, and O.C. Stine. 2001. Instabilotyping: comprehensive identification of frameshift mutations caused by coding region microsatellite instability. Cancer Res. 61:6046–9.

    CAS  PubMed  Google Scholar 

  • Nakagawa, H., J.C. Lockman, W.L. Frankel, H. Hampel, K. Steenblock, L.J. Burgart, S.N. Thibodeau, and A. de la Chapelle. 2004. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res. 64:4721–7.

    CAS  PubMed  Google Scholar 

  • Nicholson, A., M. Hendrix, S. Jinks-Robertson, and G.F. Crouse. 2000. Regulation of mitotic homeologous recombination in yeast. Functions of mismatch repair and nucleotide excision repair genes. Genetics. 154:133–46.

    CAS  PubMed  Google Scholar 

  • Nicolaides, N.C., N. Papadopoulos, B. Liu, Y.F. Wei, K.C. Carter, S.M. Ruben, C.A. Rosen, W.A. Haseltine, R.D. Fleischmann, C.M. Fraser, and et al. 1994. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 371:75–80.

    Article  CAS  PubMed  Google Scholar 

  • Obmolova, G., C. Ban, P. Hsieh, and W. Yang. 2000. Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA. Nature. 407:703–10.

    CAS  PubMed  Google Scholar 

  • Palombo, F., P. Gallinari, I. Iaccarino, T. Lettieri, M. Hughes, A. D\rsArrigo, O. Truong, J.J. Hsuan, and J. Jiricny. 1995. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science. 268:1912–4.

    CAS  PubMed  Google Scholar 

  • Palombo, F., I. Iaccarino, E. Nakajima, M. Ikejima, T. Shimada, and J. Jiricny. 1996. hMutSbeta, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA. Curr Biol. 6:1181–4.

    Article  CAS  PubMed  Google Scholar 

  • Papadopoulos, N., N.C. Nicolaides, B. Liu, R. Parsons, C. Lengauer, F. Palombo, A. D\rsArrigo, S. Markowitz, J.K. Willson, K.W. Kinzler, and et al. 1995. Mutations of GTBP in genetically unstable cells. Science. 268:1915–7.

    CAS  PubMed  Google Scholar 

  • Papadopoulos, N., N.C. Nicolaides, Y.F. Wei, S.M. Ruben, K.C. Carter, C.A. Rosen, W.A. Haseltine, R.D. Fleischmann, C.M. Fraser, M.D. Adams, and et al. 1994. Mutation of a mutL homolog in hereditary colon cancer. Science. 263:1625–9.

    CAS  PubMed  Google Scholar 

  • Paques, F., and J.E. Haber. 1999. Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae. Microbiol Mol Biol Rev. 63:349–404.

    CAS  PubMed  Google Scholar 

  • Paraf, F., S. Jothy, and E.G. Van Meir. 1997. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol. 15:2744–58.

    CAS  PubMed  Google Scholar 

  • Pedrazzi, G., C. Perrera, H. Blaser, P. Kuster, G. Marra, S.L. Davies, G.H. Ryu, R. Freire, I.D. Hickson, J. Jiricny, and I. Stagljar. 2001. Direct association of Bloom\rss syndrome gene product with the human mismatch repair protein MLH1. Nucleic Acids Res. 29:4378–86.

    Article  CAS  PubMed  Google Scholar 

  • Peinado, M.A., S. Malkhosyan, A. Velazquez, and M. Perucho. 1992. Isolation and characterization of allelic losses and gains in colorectal tumors by arbitrarily primed polymerase chain reaction. Proc Natl Acad Sci U S A. 89:10065–9.

    CAS  PubMed  Google Scholar 

  • Peltom\:aki, P., L.A. Aaltonen, P. Sistonen, L. Pylkkanen, J.P. Mecklin, H. Jarvinen, J.S. Green, J.R. Jass, J.L. Weber, F.S. Leach, and et al. 1993. Genetic mapping of a locus predisposing to human colorectal cancer. Science. 260:810–2.

    CAS  Google Scholar 

  • Percesepe, A., P. Kristo, L.A. Aaltonen, M. Ponz de Leon, A. de la Chapelle, and P. Peltom\:aki. 1998. Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability. Oncogene. 17:157–63.

    Article  CAS  PubMed  Google Scholar 

  • Plaschke, J., S. Kruger, B. Jeske, F. Theissig, F.R. Kreuz, S. Pistorius, H.D. Saeger, I. Iaccarino, G. Marra, and H.K. Schackert. 2004. Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression. Cancer Res. 64:864–70.

    Article  CAS  PubMed  Google Scholar 

  • Plaschke, J., S. Kruger, S. Pistorius, F. Theissig, H.D. Saeger, and H.K. Schackert. 2002. Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. Int J Cancer. 97:643–8.

    Article  CAS  PubMed  Google Scholar 

  • Polakis, P. 2000. Wnt signaling and cancer. Genes Dev. 14:1837–51.

    CAS  PubMed  Google Scholar 

  • Ponz de Leon, M., G. Della Casa, P. Benatti, A. Percesepe, C. di Gregorio, R. Fante, and L. Roncucci. 1998. Frequency and type of colorectal tumors in asymptomatic high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Cancer Epidemiol Biomarkers PRev. 7:639–41.

    Google Scholar 

  • Pospiech, H., and J.E. Syvaoja. 2003. DNA polymerase epsilon-more than a polymerase. Scientific World Journal. 3:87–104.

    CAS  PubMed  Google Scholar 

  • Rajagopalan, H., M.A. Nowak, B. Vogelstein, and C. Lengauer. 2003. The significance of unstable chromosomes in colorectal cancer. Nat Rev Cancer. 3:695–701.

    Article  CAS  PubMed  Google Scholar 

  • Rampino, N., H. Yamamoto, Y. Ionov, Y. Li, H. Sawai, J.C. Reed, and M. Perucho. 1997. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science. 275:967–9.

    Article  CAS  PubMed  Google Scholar 

  • Räschle, M., P. Dufner, G. Marra, and J. Jiricny. 2002. Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha. J Biol Chem. 277:21810–20.

    PubMed  Google Scholar 

  • Räschle, M., G. Marra, M. Nyström-Lahti, P. Schär, and J. Jiricny. 1999. Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1. J Biol Chem. 274:32368–75.

    PubMed  Google Scholar 

  • Rasmussen, L.J., L. Samson, and M.G. Marinus. 1998. Dam-directed DNA mismatch repair. Humana Press, Totowa, NJ. 205-228 pp.

    Google Scholar 

  • Riccio, A., L.A. Aaltonen, A.K. Godwin, A. Loukola, A. Percesepe, R. Salovaara, V. Masciullo, M. Genuardi, M. Paravatou-Petsotas, D.E. Bassi, B.A. Ruggeri, A.J. Klein-Szanto, J.R. Testa, G. Neri, and A. Bellacosa. 1999. The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability. Nat Genet. 23:266–8.

    CAS  PubMed  Google Scholar 

  • Rigau, V., N. Sebbagh, S. Olschwang, F. Paraf, N. Mourra, Y. Parc, and J.F. Flejou. 2003. Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for hMSH6 [correction of hMLH6] immunostaining. Arch Pathol Lab Med. 127:694–700.

    CAS  PubMed  Google Scholar 

  • Risinger, J.I., A. Umar, J. Boyd, A. Berchuck, T.A. Kunkel, and J.C. Barrett. 1996. Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Nat Genet. 14:102–5.

    Article  CAS  PubMed  Google Scholar 

  • Rudolph, C., O. Fleck, and J. Kohli. 1998. Schizosaccharomyces pombe exo1 is involved in the same mismatch repair pathway as msh2 and pms1. Curr Genet. 34:343–50.

    Article  CAS  PubMed  Google Scholar 

  • Ruggiero, T., M. Olivero, A. Follenzi, L. Naldini, R. Calogero, and M.F. Di Renzo. 2003. Deletion in a (T)8 microsatellite abrogates expression regulation by 3′-UTR. Nucleic Acids Res. 31:6561–9.

    Article  CAS  PubMed  Google Scholar 

  • Schaaper, R.M. 1993. Base selection, proofreading, and mismatch repair during DNA replication in Escherichia coli. J Biol Chem. 268:23762–5.

    CAS  PubMed  Google Scholar 

  • Schär, P. 2001. Spontaneous DNA damage, genome instability, and cancer—when DNA replication escapes control. Cell. 104:329–32.

    PubMed  Google Scholar 

  • Schmutte, C., M.M. Sadoff, K.S. Shim, S. Acharya, and R. Fishel. 2001. The interaction of DNA mismatch repair proteins with human exonuclease I. J Biol Chem. 276:33011–8.

    Article  CAS  PubMed  Google Scholar 

  • Shibata, D., M.A. Peinado, Y. Ionov, S. Malkhosyan, and M. Perucho. 1994. Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nat Genet. 6:273–81.

    Article  CAS  PubMed  Google Scholar 

  • Shih, I.M., W. Zhou, S.N. Goodman, C. Lengauer, K.W. Kinzler, and B. Vogelstein. 2001. Evidence that genetic instability occurs at an early stage of colorectal tumorigenesis. Cancer Res. 61:818–22.

    CAS  PubMed  Google Scholar 

  • Sieber, O.M., K. Heinimann, P. Gorman, H. Lamlum, M. Crabtree, C.A. Simpson, D. Davies, K. Neale, S.V. Hodgson, R.R. Roylance, R.K. Phillips, W.F. Bodmer, and I.P. Tomlinson. 2002. Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC. Proc Natl Acad Sci U S A. 99:16910–5.

    CAS  PubMed  Google Scholar 

  • Sieber, O.M., K. Heinimann, and I.P. Tomlinson. 2003a. Genomic instability—the engine of tumorigenesis? Nat Rev Cancer. 3:701–8.

    Article  CAS  PubMed  Google Scholar 

  • Sieber, O.M., L. Lipton, M. Crabtree, K. Heinimann, P. Fidalgo, R.K. Phillips, M.L. Bisgaard, T.F. Orntoft, L.A. Aaltonen, S.V. Hodgson, H.J. Thomas, and I.P. Tomlinson. 2003b. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 348:791–9.

    Article  PubMed  Google Scholar 

  • Sokolsky, T., and E. Alani. 2000. EXO1 and MSH6 are high-copy suppressors of conditional mutations in the MSH2 mismatch repair gene of Saccharomyces cerevisiae. Genetics. 155:589–99.

    CAS  PubMed  Google Scholar 

  • Souza, R.F., S. Wang, M. Thakar, K.N. Smolinski, J. Yin, T.T. Zou, D. Kong, J.M. Abraham, J.A. Toretsky, and S.J. Meltzer. 1999. Expression of the wild-type insulin-like growth factor II receptor gene suppresses growth and causes death in colorectal carcinoma cells. Oncogene. 18:4063–8.

    Article  CAS  PubMed  Google Scholar 

  • Spampinato, C., and P. Modrich. 2000. The MutL ATPase is required for mismatch repair. J Biol Chem. 275:9863–9.

    Article  CAS  PubMed  Google Scholar 

  • Stojic, L., R. Brun, and J. Jiricny. 2004. Mismatch repair and DNA damage signalling. DNA Repair (Amst). 3:1091–101.

    CAS  Google Scholar 

  • Strand, M., T.A. Prolla, R.M. Liskay, and T.D. Petes. 1993. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature. Vol. 365. 274–6.

    Article  CAS  PubMed  Google Scholar 

  • Studamire, B., T. Quach, and E. Alani. 1998. Saccharomyces cerevisiae Msh2p and Msh6p ATPase activities are both required during mismatch repair. Mol Cell Biol. 18:7590–601.

    CAS  PubMed  Google Scholar 

  • Stukenberg, P.T., J. Turner, and M. O’Donnell. 1994. An explanation for lagging strand replication: polymerase hopping among DNA sliding clamps. Cell. 78:877–87.

    Article  CAS  PubMed  Google Scholar 

  • Suraweera, N., B. Iacopetta, A. Duval, A. Compoint, E. Tubacher, and R. Hamelin. 2001. Conservation of mononucleotide repeats within 3′ and 5′ untranslated regions and their instability in MSI-H colorectal cancer. Oncogene. 20:7472–7.

    Article  CAS  PubMed  Google Scholar 

  • Suter, C.M., D.I. Martin, and R.L. Ward. 2004. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet. 36:497–501.

    Article  CAS  PubMed  Google Scholar 

  • Szankasi, P., and G.R. Smith. 1995. A role for exonuclease I from S. pombe in mutation avoidance and mismatch correction. Science. 267:1166–9.

    CAS  PubMed  Google Scholar 

  • Thibodeau, S.N., G. Bren, and D. Schaid. 1993. Microsatellite instability in cancer of the proximal colon. Science. 260:816–9.

    CAS  PubMed  Google Scholar 

  • Thomas, D.C., J.D. Roberts, and T.A. Kunkel. 1991. Heteroduplex repair in extracts of human HeLa cells. J Biol Chem. 266:3744–51.

    CAS  PubMed  Google Scholar 

  • Thompson, M.A., R. Flegg, E.H. Westin, and R.G. Ramsay. 1997. Microsatellite deletions in the c-myb transcriptional attenuator region associated with over-expression in colon tumour cell lines. Oncogene. 14:1715–23.

    Article  CAS  PubMed  Google Scholar 

  • Tishkoff, D.X., N.S. Amin, C.S. Viars, K.C. Arden, and R.D. Kolodner. 1998. Identification of a human gene encoding a homologue of Saccharomyces cerevisiae EXO1, an exonuclease implicated in mismatch repair and recombination. Cancer Res. 58:5027–31.

    CAS  PubMed  Google Scholar 

  • Tishkoff, D.X., A.L. Boerger, P. Bertrand, N. Filosi, G.M. Gaida, M.F. Kane, and R.D. Kolodner. 1997. Identification and characterization of Saccharomyces cerevisiae EXO1, a gene encoding an exonuclease that interacts with MSH2. Proc Natl Acad Sci U S A. 94:7487–92.

    Article  CAS  PubMed  Google Scholar 

  • Tran, H.T., D.A. Gordenin, and M.A. Resnick. 1999. The 3′—>5′ exonucleases of DNA polymerases delta and epsilon and the 5′—>3′ exonuclease Exo1 have major roles in postreplication mutation avoidance in Saccharomyces cerevisiae. Mol Cell Biol. 19:2000–7.

    CAS  PubMed  Google Scholar 

  • Tran, P.T., and R.M. Liskay. 2000. Functional studies on the candidate ATPase domains of Saccharomyces cerevisiae MutLalpha. Mol Cell Biol. 20:6390–8.

    Article  CAS  PubMed  Google Scholar 

  • Tran, P.T., J.A. Simon, and R.M. Liskay. 2001. Interactions of Exo1p with components of MutLalpha in Saccharomyces cerevisiae. Proc Natl Acad Sci U S A. 98:9760–5.

    Article  CAS  PubMed  Google Scholar 

  • Trimbath, J.D., G.M. Petersen, S.H. Erdman, M. Ferre, M.C. Luce, and F.M. Giardiello. 2001. Cafe-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC? Fam Cancer. 1:101–5.

    Article  CAS  PubMed  Google Scholar 

  • Truninger K., M. Menigatti, J. Luz, A. Russell, R. Haider, J-O. Gebbers, F. Bannwart, H. Yurtsever, J. Neuweiler, H-M. Riehle, M.S. Cattaruzza, K. Heinimann, P. Schär, J. Jiricny, and G. Marra. 2005. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology. (in press)

    Google Scholar 

  • Umar, A., C.R. Boland, J.P. Terdiman, S. Syngal, A. de la Chapelle, J. Ruschoff, R. Fishel, N.M. Lindor, L.J. Burgart, R. Hamelin, S.R. Hamilton, R.A. Hiatt, J. Jass, A. Lindblom, H.T. Lynch, P. Peltomaki, S.D. Ramsey, M.A. Rodriguez-Bigas, H.F. Vasen, E.T. Hawk, J.C. Barrett, A.N. Freedman, and S. Srivastava. 2004. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 96:261–8.

    CAS  PubMed  Google Scholar 

  • Umar, A., J.C. Boyer, and T.A. Kunkel. 1994. DNA loop repair by human cell extracts. Science. 266:814–6.

    CAS  PubMed  Google Scholar 

  • Umar, A., A.B. Buermeyer, J.A. Simon, D.C. Thomas, A.B. Clark, R.M. Liskay, and T.A. Kunkel. 1996. Requirement for PCNA in DNA mismatch repair at a step preceding DNA resynthesis. Cell. 87:65–73.

    Article  CAS  PubMed  Google Scholar 

  • Vasen, H.F., B.G. Taal, F.M. Nagengast, G. Griffioen, F.H. Menko, J.H. Kleibeuker, G.J. Offerhaus, and P. Meera Khan. 1995. Hereditary nonpolyposis colorectal cancer: results of long-term surveillance in 50 families. Eur J Cancer. 31A:1145–8.

    CAS  PubMed  Google Scholar 

  • Vasen, H.F., P. Watson, J.P. Mecklin, and H.T. Lynch. 1999. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 116:1453–6.

    Article  CAS  PubMed  Google Scholar 

  • Vassileva, V., A. Millar, L. Briollais, W. Chapman, and B. Bapat. 2002. Genes involved in DNA repair are mutational targets in endometrial cancers with microsatellite instability. Cancer Res. 62:4095–9.

    CAS  PubMed  Google Scholar 

  • Waga, S., G.J. Hannon, D. Beach, and B. Stillman. 1994. The p21 inhibitor of cyclin-dependent kinases controls DNA replication by interaction with PCNA. Nature. 369:574–8.

    CAS  PubMed  Google Scholar 

  • Wahlberg, S.S., J. Schmeits, G. Thomas, M. Loda, J. Garber, S. Syngal, R.D. Kolodner, and E. Fox. 2002. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res. 62:3485–92.

    CAS  PubMed  Google Scholar 

  • Wang, H., and J.B. Hays. 2004. Signaling from DNA mispairs to mismatch-repair excision sites despite intervening blockades. EMBO J. 23:2126–33.

    CAS  PubMed  Google Scholar 

  • Warbrick, E. 2000. The puzzle of PCNA’s many partners. Bioessays. 22:997–1006.

    Article  CAS  PubMed  Google Scholar 

  • Wei, K., A.B. Clark, E. Wong, M.F. Kane, D.J. Mazur, T. Parris, N.K. Kolas, R. Russell, H. Hou, Jr., B. Kneitz, G. Yang, T.A. Kunkel, R.D. Kolodner, P.E. Cohen, and W. Edelmann. 2003. Inactivation of Exonuclease 1 in mice results in DNA mismatch repair defects, increased cancer susceptibility, and male and female sterility. Genes Dev. 17:603–14.

    Article  CAS  PubMed  Google Scholar 

  • Wilson, D.M., 3rd, J.P. Carney, M.A. Coleman, A.W. Adamson, M. Christensen, and J.E. Lamerdin. 1998. Hex1: a new human Rad2 nuclease family member with homology to yeast exonuclease 1. Nucleic Acids Res. 26:3762–8.

    CAS  PubMed  Google Scholar 

  • Winawer, S.J., R.H. Fletcher, L. Miller, F. Godlee, M.H. Stolar, C.D. Mulrow, S.H. Woolf, S.N. Glick, T.G. Ganiats, J.H. Bond, L. Rosen, J.G. Zapka, S.J. Olsen, F.M. Giardiello, J.E. Sisk, R. Van Antwerp, C. Brown-Davis, D.A. Marciniak, and R.J. Mayer. 1997. Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology. 112:594–642.

    Article  CAS  PubMed  Google Scholar 

  • Woerner, S.M., A. Benner, C. Sutter, M. Schiller, Y.P. Yuan, G. Keller, P. Bork, M.K. Doeberitz, and J.F. Gebert. 2003. Pathogenesis of DNA repair-deficient cancers: a statistical meta-analysis of putative Real Common Target genes. Oncogene. 22:2226–35.

    Article  CAS  PubMed  Google Scholar 

  • Wright, C.L., and I.D. Stewart. 2003. Histopathology and mismatch repair status of 458 consecutive colorectal carcinomas. Am J Surg Pathol. 27:1393–406.

    PubMed  Google Scholar 

  • Yamaguchi, M., V. Dao, and P. Modrich. 1998. MutS and MutL activate DNA helicase II in a mismatch-dependent manner. J Biol Chem. 273:9197–201.

    CAS  PubMed  Google Scholar 

  • Yao, J., K.W. Eu, F. Seow-Choen, V. Vijayan, and P.Y. Cheah. 1999. Microsatellite instability and aneuploidy rate in young colorectal-cancer patients do not differ significantly from those in older patients. Int J Cancer. 80:667–70.

    Article  CAS  PubMed  Google Scholar 

  • Young, J., L.A. Simms, K.G. Biden, C. Wynter, V. Whitehall, R. Karamatic, J. George, J. Goldblatt, I. Walpole, S.A. Robin, M.M. Borten, R. Stitz, J. Searle, D. McKeone, L. Fraser, D.R. Purdie, K. Podger, R. Price, R. Buttenshaw, M.D. Walsh, M. Barker, B.A. Leggett, and J.R. Jass. 2001. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Am J Pathol. 159:2107–16.

    CAS  PubMed  Google Scholar 

  • Yuan, F., L. Gu, S. Guo, C. Wang, and G.M. Li. 2004. Evidence for involvement of HMGB1 protein in human DNA mismatch repair. J Biol Chem. 279:20935–40.

    CAS  PubMed  Google Scholar 

  • Zhang, L., J. Yu, J.K. Willson, S.D. Markowitz, K.W. Kinzler, and B. Vogelstein. 2001. Short mononucleotide repeat sequence variability in mismatch repair-deficient cancers. Cancer Res. 61:3801–5.

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Institute of Molecular Cancer Research, University of Zurich, Zurich, Switzerland

    Giancarlo Marra & Josef Jiricny

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  1. Giancarlo Marra
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  2. Josef Jiricny
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Editors and Affiliations

  1. Max-Planck Institute of Biochemistry, Martinsried, Germany

    Erich A. Nigg

  2. State University of New York, Buffalo

    Nathan Back

  3. The Weizmann Institute of Science, Israel

    Irun R. Cohen

  4. Wistar Institute, USA

    David Kritchevsky

  5. N. S. Kline Institute for Psychiatric Research, USA

    Abel Lajtha

  6. University of Milan, Italy

    Rodolfo Paoletti

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Marra, G., Jiricny, J. (2005). DNA Mismatch Repair and Colon Cancer. In: Back, N., Cohen, I.R., Kritchevsky, D., Lajtha, A., Paoletti, R., Nigg, E.A. (eds) Genome Instability in Cancer Development. Advances in Experimental Medicine and Biology, vol 570. Springer, Dordrecht. https://doi.org/10.1007/1-4020-3764-3_4

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