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Review

Mismatch repair defects as a cause of resistance to cytotoxic drugs

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Pages 149-158 | Published online: 10 Jan 2014

References

  • Tindall KR, Glaab WE, Umar A etal. Complementation of mismatch repair genedefects by chromosome transfer. Mutat. Res. 402(1–2), 15–22 (1998).
  • Jiricny J, Nystrom-Lahti M. Mismatch repair defects and cancer. Cum Opin. Genet. Dev. 10(2), 157–161 (2000).
  • Obmolova G, Ban C, Hsieh P, Yang W Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA. Nature 407(6805), 703–710 (2000).
  • Lamers MH, Perrakis A, Enzlin JH et al. The crystal structure of DNA mismatch repair protein MutS binding to a GxT mismatch. Nature 407(6805), 711–717 (2000).
  • Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynchsyndrome). An updated review. Cancer 78(6), 1149–1167 (1996).
  • Pei-tom:Ai P DNA mismatch repair gene mutations in human cancer. Environmental I-kalth Penpectives105(S4), 775–780 (1997).
  • Ricciardone MD, Ozcelik T, Cevher B et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis Type 1. Cancer Res. 59(2), 290–293. (1999).
  • Wang Q, Lasset C, Desseigne F et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res. 59(2), 294–297 (1999).
  • Fishel R, Kolodner RD. Identification of mismatch repair genes and their role in the development of cancer. CUI7: Opin. Genet. Dev 5(3), 382–395 (1995).
  • Gartenhaus RB. Microsatellite instability in hematologic malignancies. Leuk. Lymphoma 25(5-6), 455–461 (1997).
  • Schwartz S, Yamamoto H, Navarro M et al. Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res. 59(12), 2995–3002 (1999).
  • Calm GA, Gara R, Tibiletti MG et al. Genetic progression in microsatellite instability high (MSI-H) colon cancers correlates with clinico-pathological parameters: A study of the TG113Rff, BAX HMSH3, HMSH6, IGFIIRand BLMgenes. Int. j Cancer89(3), 230–235 (2000).
  • Boyer JC, Umar A, Risinger JI et al. Microsatellite instability, mismatch repair deficiency and genetic defects in human cancer cell lines. Cancer Res. 55(24), 6063–6070 (1995).
  • Kat A, Thilly WG, Fang WH et al. An alkylation-tolerant, mutator human cell line is deficient in strand-specific mismatch repair. Proc. Natl Acad. Sc]. USA 90(14), 6424–6428 (1993).
  • Branch P, Aquilino G, Bignami M, Karran P Defective mismatch binding and a mutator phenotype in cells tolerant to DNA damage. Nature 362(15 April), 652–654 (1993).
  • Risinger JI, Umar A, Barrett JC, Kunkel TA. A hPMS2 mutant cell line is defective in strand-specific mismatch repair. j Biol. Chem. 270(31), 18183–18186 (1995).
  • Umar A, Koi M, Risinger JI et al. Correction of hypermutability, N-methyl-N'-nitro-N- nitrosoguanidine resistance and defective DNA mismatch repair by introducing chromosome 2 into human tumor cells with mutations in MSH2 and MSH6. Cancer Res. 57(18), 3949–3955 (1997).
  • Koi M, Umar A, Chauhan DP et al Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-methyl-N'-nitro-N- nitrosoguanidine tolerance in colon tumor cells with homozygous hWILH1 mutation. Cancer Res. 54(16), 4308–4312 (1994).
  • Duckett DR, Drummond JT, Murchie AT et al. Human MutSalpha recognizes damaged DNA base pairs containing 06-methylguanine, 04-methylthymine, or the cisplatin-d(GpG) adduct. Proc. Natl Acad. Sci. USA 93(13), 6443–6447 (1996).
  • Dosch J, Christmann M, Kaina B. Mismatch G-T binding activity and MSH2 expression is quantitatively related to sensitivity of cells to methylating agents. Catrinogenesis 19 (4), 567–573 (1998) .
  • Berardini M, Mazurek A, Fishel R. The effect of 06-methylguanine DNA adducts on the adenosine nucleotide switch functions of hMSH2-hMSH6 and hMSH2- hMSH3. j Biol. Chem. 275 (36), 27851–27857 (2000).
  • •This study demonstrated that 06-methylguanine lesions, when paired with either a C or T, were bound by MutSa, but more importantly that this binding activated the ADP -> ATP exchange and ATPase activity of the heterodimer, known to be fundamental to repair activity.
  • D'Atri S, Tentori L, Lacal PM, Graziani G, Pagani E, Benincasa E et al. Involvement of the mismatch repair system in temozolomide- induced apoptosis. Mal Pharmacol 54(2), 334–341 (1998).
  • Duckett DR, Bronstein SM, Taya Y, Modrich P hMutSoc- and hMutLoc-dependent phosphorylation of p53 in response to DNA methylator damage. Proc. Natl Acad. Sci. USA 96(22), 12384–12388 (1999).
  • Toft NJ, Winton DJ, Kelly J et al Msh2 status modulates both apoptosis and mutation frequency in the murine small intestine. Proc. Natl Acad. Sci. USA 96(7), 3911–3915 (1999).
  • Hickman MJ, Samson LD. Role of DNA mismatch repair and p53 in signaling induction of apoptosis by alkylating agents. Proc. Natl Acad. Sci. USA 96(19), 10764–10769 (1999).
  • Pegg AE. Repair of 0(6)-alkylguanine by alkyltransferases. Mutat. Res. 462(2–3), 83–100 (2000).
  • Liu L, Markowitz S, Gerson SL. Mismatch repair mutations override alkyltransferase in conferring resistance to temozolomide but not to 1,3-bis(2-chloroethyOnitrosourea. Cancer Res. 56(23), 5375–5379 (1996).
  • Hawn MT, Umar A, Carethers JM et al. Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint. Cancer Res. 55(17), 3721–3725 (1995).
  • Swann PF, Waters TR, Moulton DC et al. Role of postreplicative DNA mismatch repair in the cytotoxic action of thioguanine. Science 273(5278), 1109–1111 (1996).
  • Waters TR, Swann PE Cytotoxic mechanism of 6-thioguanine: hMutSoc, the human mismatch binding heterodimer, binds to DNA containing S6-methylthioguanine. Biochemistry 36 (9), 2501–2506 (1997).
  • Drummond JT, Anthoney A, Brown R, Modrich P Cisplatin and adriamycin resistance are associated with MutL a and mismatch repair deficiency in an ovarian tumor cell line. J. Biol. Chem. 271(33), 19645–19648 (1996).
  • Fink D, Nebel S, Aebi S et al. The role of DNA mismatch repair in platinum drug resistance. Cancer Res. 56(21), 4881–4886 (1996).
  • Fink D, Zheng H, Nebel S et al. In vitro and in vivo resistance to cisplatin in cells that have lost DNA mismatch repair. Cancer Res. 57(10), 1841–1845 (1997).
  • •This paper reports that treatment of a mixed population of MMR-proficient and -deficient cells with cisplatin and other chemotherapeutic agents led to enrichment of the deficient cells. This emergence of MMR-deficient cells was also shown in vivo in biopsies of ovarian tumors from patients undergoing cisplatin therapy.
  • Anthoney DA, McIlwrath AJ, Gallagher WM, Edlin AR, Brown R. Microsatellite instability, apoptosis and loss of p53 function in drug- resistant tumor cells. Cancer Res. 56(6), 1374–1381 (1996).
  • Vaisman A, Varchenko M, Umar A et al. The role of hMLH1, hMSH3 and hMSH6 defects in cisplatin and oxaliplatin resistance: correlation with replicative bypass of platinum-DNA adducts. Cancer Res. 58(16), 3579–3585 (1998).
  • Fink D, Nebel S, Norris PS et al. Enrichment for DNA mismatch repair-deficient cells during treatment with cisplatin. Int.j Cancer77 (5), 741–746 (1998).
  • Yamada M, O'Regan E, Brown R, Karran P Selective recognition of a cisplatin-DNA adduct by human mismatch repair proteins. Nucleic Acids Res. 25(3), 491–495 (1997).
  • Nehmé A, Baskaran R, Aebi S et al. Differential induction of c-Jun NH2-terminal kinase and c-Abl kinase in DNA mismatch repair-proficient and deficient cells exposed to cisplatin. Cancer Res. 57(15), 3253–3257 (1997).
  • Gong JG, Costanzo A, Yang HQ et al. The tyrosine kinase c-Abl regulates p73 in apoptotic response to cisplatin-induced DNA damage. Nature 399 (6738), 806–809 (1999).
  • Aebi S, Fink D, Gordon R et al. Resistance to cytotoxic drugs in DNA mismatchrepair-deficient cells. Clin. Cancer Res. 3(10), 1763–1767 (1997).
  • las Alas MM, Aebi S, Fink D, Howell SB, Los G. Loss of DNA mismatch repair: effects on the rate of mutation to drug resistance. J. Natl Cancer Inst. 89 (20), 1537–1541 (1997).
  • Friedman HS, Johnson SP, Dong Q et al. Methylator resistance mediated by mismatch repair deficiency in a glioblastoma multiforme xenograft. Cancer Res. 57(14), 2933–2936 (1997).
  • Cunningham JM, Christensen ER, Tester DJ et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 58(15), 3455–3460 (1998).
  • Esteller M, Levine R, Baylin SB, Ellenson LH, Herman JG. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 17(18), 2413–2417 (1998).
  • Veigl ML, Kasturi L, Olechnowicz J et al. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Floc. Natl Acad. Sc]. USA 95(15), 8698–8702 (1998).
  • Herman JG, Umar A, Polyak K et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc. Natl Acad. Sc]. USA 95(12), 6870–6875 (1998).
  • Kane MF, Loda M, Gaida GM et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 57(5), 808–811 (1997).
  • Bearzatto A, Szadkowski M, Macpherson P, Jiricny J, Kaman P Epigenetic regulation of the MGMT and hMSH6 DNA repair genes in cells resistant to methylating agents. Cancer Res. 60 (12), 3262–3270 (2000).
  • Indraccolo S, Minuzzo S, Nicoletti L et al. Mutator phenotype in human hematopoietic neoplasms and its association with deletions disabling DNA repair genes and bc1-2 rearrangements. B/ooc/94(7), 2424–2432 (1999).
  • Zhu YM, Das-Gupta EP, Russell NH. Microsatellite instability and p53 mutations are associated with abnormal expression of the MSH2 gene in adult acute leukemia. B/ooc/94(2), 733–740 (1999).
  • Drummond JT, Genschel J, Wolf E, Modrich P DHF1?7I4SH3amplification in methotrexate-resistant cells alters the hMutSaihMutS13 ratio and reduces the efficiency of base-base mismatch repair. Floc. Natl Acad. Sc]. USA 94(19)10144-10149 (1997).
  • Marra G, Iaccarino I, Lettieri T et al. Mismatch repair deficiency associated with overexpression of the MSH3gene. Proc. Natl. Acad. Sc]. USA 95(15), 8568–8573 (1998).
  • Fink D, Nebel S, Norris PS et al. The effect of different chemotherapeutic agents on the enrichment of DNA mismatch repair-deficient tumour cells. BE J. Cancer 77(5), 703–708 (1998).
  • Brown R, Hirst GL, Gallagher WM et al hMLH1 expression and cellular responses of ovarian tumour cells to treatment with cytotoxic anticancer agents. Oncogene 15(1), 45–52 (1997).
  • Samimi G, Fink D, Varki NM et al. Analysis of MLH1 and MSH2 expression in ovarian cancer before and after platinum drug-based chemotherapy. Clin. Cancer Res. 6(4), 1415–1421 (2000).
  • Strathdee G, MacKean MJ, Illand M, Brown R. A role for methylation of the h/V/LH/ promoter in loss of hMLH1 expression and drug resistance in ovarian cancer. Oncogene 18(14), 2335–2341 (1999).
  • Geisler JP, Geisler HE, Miller GA et al. Immunohistochemical staining of the mismatch repair gene, hMSH2 and survival in patients with ovarian carcinoma. Eur Cynaecol Oiled 21(3), 237–240 (2000).
  • Mackay HJ, Cameron D, Rahilly M et al. Reduced MLH1 expression in breast tumors after primary chemotherapy predicts disease-free survival. j Clin. Oncol 18(1), 87–93 (2000).
  • •This paper describes a key clinical study that showed a correlation between loss of MLH1 expression in breast cancer tissue after primary, cisplatin-based chemotherapy and a poorer disease-free survival.
  • Friedman HS, McLendon RE, Kerby T et al DNA mismatch repair and 06-alkylguanine-DNA alkyltransferase analysis and response to Temodal in newly diagnosed malignant glioma. j Clin. Oncol (1998) 16(12), 3851–3857.
  • Wei Q, Eicher SA, Guan Y et al. Reduced expression of hMLH1 and hGTBP/ hMSH6: a risk factor for head and neck cancer. Cancer Epiclemiol Biomarkers Prey. 7(4), 309–314 (1998).
  • Maehara Y, Oda S, Sugimachi K. The instability within: problems in current analyses of microsatellite instability. Mutat.Res. 461(4), 249–263 (2001).
  • Edelmann W, Yang K, Umar A et al Mutation in the mismatch repair gene Nbh6 causes cancer susceptibility. Cell 91(4), 467–477 (1997).
  • Brisco MJ, Sykes PJ, Dolman G et al. Early resistance to therapy during induction in childhood acute lymphoblastic leukemia. Cancer Res. 60(18), 5092–5096 (2000).
  • Berry SE, Garces C, Hwang HS et al. The mismatch repair protein, hMLH1, mediates 5-substituted halogenated thymidine analogue cytotoxicity, DNA incorporation and radiosensitization in human colon cancer cells. Cancer Res. 59(8), 1840–1845 (1999).
  • Berry SE, Davis TVV, Schupp JE et al. Selective radiosensitization of drug-resistant MutS homologue-2 (MSH2) mismatch repair-deficient cells by halogenated thymidine (dThd) analogues: Msh2 mediates dThd analogue DNA levels and the differential cytotoxicity and cell cycle effects of the dThd analogues and 6-thioguanine. Cancer Res. 60(20), 5773–5780 (2000).
  • Aquilina G, Ceccotti S, Martinelli S, Hampson R, Bignami M. N- (2-chloroethyl)- N'-cyclohexyl-N-nitrosourea sensitivity in mismatch repair-defective human cells. Cancer Res. 58(1), 135–141 (1998).
  • Fiumicino S, Martinelli S, Colussi C et al. Sensitivity to DNA cross-linking chemotherapeutic agents in mismatch repair-defective cells in vitro and in xenografts Int.j Cancer 85 (4), 590–596 (2000).
  • Plumb JA, Strathdee G, Sludden J, Kaye SB, Brown R. Reversal of drug resistance in human tumor xenografts by 2'-deoxy-5-azacytidine-induced demethylation of the hMLH1 gene promoter. Cancer Res. 60(21), 6039–6044 (2000).
  • Tentori L, Vernole P, Lacal PM et al. Cytotoxic and clastogenic effects of a DNA minor groove binding methyl sulfonate ester in mismatch repair deficient leukemic cells. Leukemia 14(8), 1451–1459 (2000).
  • Tentori L, Turriziani M, Franco D et al. Treatment with temozolomide and poly(ADP-ribose) polymerase inhibitors induces early apoptosis and increases base excision repair gene transcripts in leukemic cells resistant to triazene compounds. Leukemia 13(6), 901–909 (1999).

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