Relevance of DNA methylation in the management of cancer

Lancet Oncology

Volumn 4, Issue 6, 2003, Pages 351-358

  Esteller, Manel ^a  

^a Centro Nacional de Investigaciones Oncológicas   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; ALKYLATING AGENT; ANTINEOPLASTIC AGENT; APC PROTEIN; AZACITIDINE; BETA CATENIN; BIOLOGICAL MARKER; BISULFITE; BRCA1 PROTEIN; CARMUSTINE; CISPLATIN; CISPLATIN DERIVATIVE; CYCLOPHOSPHAMIDE; DNA; DOXORUBICIN; ESTROGEN RECEPTOR; GENE PRODUCT; METHYLATED DNA PROTEIN CYSTEINE METHYLTRANSFERASE; PROCAINAMIDE; PROTEIN MLH1; PROTEIN P14ARF; PROTEIN P15; PROTEIN P16; PROTEIN P53; PROTEIN P73; PROTEIN SERINE THREONINE KINASE; RETINOBLASTOMA PROTEIN; THROMBOSPONDIN 1; UNINDEXED DRUG; UVOMORULIN; TUMOR MARKER;

BLOOD SAMPLING; BODY FLUID; CANCER CELL; CANCER CHEMOTHERAPY; CANCER HORMONE THERAPY; CPG ISLAND; DNA METHYLATION; DNA MODIFICATION; DNA REPAIR; DRUG EFFICACY; DRUG MECHANISM; ENVIRONMENTAL FACTOR; GENE ACTIVATION; GENE EXPRESSION; GENE INACTIVATION; GENE SILENCING; GENETIC MARKER; GENETIC STABILITY; HEREDITY; HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; PROMOTER REGION; REVIEW; RNA TRANSLATION; SENSITIVITY ANALYSIS; TUMOR SUPPRESSOR GENE; URINALYSIS; DRUG EFFECT; GENETICS; METABOLISM; NEOPLASM; PHYSIOLOGY;

DNA METHYLATION; DNA REPAIR; DNA, NEOPLASM; GENE EXPRESSION; GENES, TUMOR SUPPRESSOR; HUMANS; NEOPLASMS; TUMOR MARKERS, BIOLOGICAL;

EID: 0038747956     PISSN: 14702045     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1470-2045(03)01115-X     Document Type: Review

References (76)

1. Robertson KD, Wolffe AP. DNA methylation in health and disease. Nat Rev Genet 2000; 1: 11-19.
2. Paz MF, Avila S, Fraga MF, et al. Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumours. Cancer Res 2002; 62: 4519-24.
3. Ehrlich M. DNA hypomethylation and cancer. In: Ehrlich M (Ed). DNA alterations in cancer: genetic and epigenetic changes. Natick: Eaton Publishing, 2000: 273-91.
4. Fraga MF, Uriol E, Diego LB, et al. High performance capillary electrophoretic method for the quantification of 5-methyl 2′-deoxycytidine in genomic DNA: application to plant, animal and human cancer tissues. Electrophoresis 2002; 23: 1677-81.
5. Esteller M, Fraga MF, Guo M, et al. DNA methylation patterns in hereditary human cancer mimics sporadic tumorigenesis. Hum Mol Genet 2001; 10: 3001-07.
6. Bird AP. CpG-rich islands and the function of DNA methylation. Nature 1986; 321: 209-13.
7. Baylin SB, Esteller M, Rountree MR, et al. Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer. Hum Mol Genet 2001; 10: 687-92.
8. Yoder JA, Walsh CP, Bestor TH. Cytosine methylation and the ecology of intragenomic parasites. Trends Genet 1997; 13: 335-40.
9. Esteller M, Corn PG, Baylin SB, et al. A gene hypermethylation profile of human cancer. Cancer Res 2001; 61: 3225-29.
10. Esteller M. CpG island hypermethylation and tumor suppressor genes: a booming present, a brighter future. Oncogene 2002; 21: 5427-40.
11. Herman JG, Merlo A, Mao L, et al. Inactivation of the CDKN2/p16/MTS1 gene is frequently associated with aberrant DNA methylation in all common human cancers. Cancer Res 1995; 55: 4525-30.
12. Merlo A, Herman JG, Mao L, et al. 5′ CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers. Nat Med 1995; 1: 686-92.
13. Gonzalez-Zulueta M, Bender CM, Yang AS, et al. Methylation of the 5′ CpG island of the p16/CDKN2 tumor suppressor gene in normal and transformed human tissues correlates with gene silencing. Cancer Res 1995; 55: 4531-35.
14. Greger V, Passarge E, Hopping W, et al. Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet 1989; 83: 155-58.
15. Herman JG, Jen J, Merlo A, Baylin SB. Hypermethylation-associated inactivation indicates a tumor suppressor role for p15INK4B. Cancer Res 1996; 56: 722-27.
16. Robertson KD, Jones PA. The human ARF cell cycle regulatory gene promoter is a CpG island which can be silenced by DNA methylation and down-regulated by wild-type p53. Mol Cell Biol 1999; 18: 6457-73.
17. Esteller M, Tortola S, Toyota M, et al. Hypermethylation-associated inactivation of p14(ARF) is independent of p16(INK4a) methylation and p53 mutational status. Cancer Res 2000; 60: 129-33.
18. Esteller M, Cordon-Cardo C, Corn PG, et al. p14ARF silencing by promoter hypermethylation mediates abnormal intracellular localization of MDM2. Cancer Res 2001; 61: 2816-21.
19. Corn PG, Kuerbitz SJ, Van Noesel MM, et al. Transcriptional silencing of the p73 gene in acute lymphoblastic leukemia and Burkitt's lymphoma is associated with 5′ CpG island methylation. Cancer Res 1999; 59: 3352-56.
20. Esteller M, Sparks A, Toyota M, et al. Analysis of APC promoter hypermethylation in human cancer. Cancer Res 2000; 60: 4366-71.
21. Graff JR, Herman JG, Lapidus RG, et al. E-cadherin expression is silenced by DNA hypermethylation in human breast and prostate carcinomas. Cancer Res 1995; 55: 5195-99.
22. Toyooka KO, Toyooka S, Virmani AK, et al. Loss of expression and aberrant methylation of the CDH13 (H-cadherin) gene in breast and lung carcinomas. Cancer Res 2001; 61: 4556-60.
23. 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 1997; 57: 808-11.
24. Herman JG, Umar A, Polyak K, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 1998; 95: 6870-75.
25. Exteller M, Levine R, Hedrick Ellenson L, et al. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinoma. Oncogene 1998; 17: 2413-17.
26. Esteller M, Lluis Catasus, Matias-Guiu X, et al. hMLH1 promoter hypermethylation is an early event in endometrial tumorigenesis. Am J Pathol 1999; 155: 1767-72.
27. Fleisher AS, Esteller M, Wang S, et al. Hypermethylation of the hMLH1 gene promoter in human gastric cancers with microsatellite instability. Cancer Res 1999; 59: 1090-95.
28. 6-methylguanine-DNA methyltransferase by promoter hypermethylation is a common event in primary human neoplasia. Cancer Res 1999; 59: 793-97.
29. Esteller M, Toyota M, Sanchez-Cespedes M, et al. Inactivation of the DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation is associated with G to A mutations in K-ras in colorectal tumorigenesis. Cancer Res 2000; 60: 2368-71.
30. 6-Methylguanine-DNA methyltransferase is associated with the presence of G:C to A:T transition mutations in p53 in human colorectal tumorigenesis. Cancer Res 2001; 61: 4689-92.
31. Mizuno K, Osada H, Konishi H, et al. Aberrant hypermethylation of the CHFR prophase checkpoint gene in human lung cancers. Oncogene 2002; 21: 2328-33.
32. Esteller M, Silva JM, Dominguez G, et al. Promoter hypermethylation is a cause of BRCA1 inactivation in sporadic breast and ovarian tumors. J Natl Cancer Inst 2000; 92: 564-69.
33. Hedelfank I, Duggan D, Chen Y, et al. Gene-expression profiles in hereditary breast cancer. New Engl J Med 2001; 343: 539-48.
34. Ottaviano YL, Issa JP, Parl FF, et al. Methylation of the estrogen receptor gene CpG island marks loss of estrogen receptor expression in human breast cancer cells. Cancer Res 1994; 54: 2552-55.
35. Lapidus RG, Ferguson AT, Ottaviano YL, et al. Methylation of estrogen and progesterone receptor gene 5′ CpG islands correlates with lack of estrogen and progesterone receptor gene expression in breast tumors. Clin Cancer Res 1996; 2: 805-10.
36. Jarrard DF, Kinoshita H, Shi Y, et al. Methylation of the androgen receptor promoter CpG island is associated with loss of androgen receptor expression in prostate cancer cells. Cancer Res 1998; 58: 5310-14.
37. Cote S, Momparler RL. Activation of the retinoic acid receptor beta gene by 5-aza-2′-deoxycytidine in human DLD-1 colon carcinoma cells. Anticancer Drugs 1997; 8: 56-61.
38. Virmani AK, Rathi A, Zochbauer-Muller S, et al. Promoter methylation and silencing of the retinoic acid receptor-beta gene in lung carcinomas. J Natl Cancer Inst 2000; 92: 1303-07.
39. Esteller M, Fraga MF, Paz MF, et al. Cancer epigenetics and methylation. Science 2002; 297: 1807-08.
40. Esteller M, Guo M, Moreno V, et al. Hypermethylation-associated inactivation of the cellular retinol-binding-protein 1 gene in human cancer. Cancer Res 2002; 62: 5902-5.
41. Xu GL, Bestor TH, Bourc'his D, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 1999; 402: 187-91.
42. Plass C, Soloway PD. DNA methylation, imprinting and cancer. Eur J Hum Genet 2002; 10: 6-16.
43. Fraga MF, Esteller M. DNA methylation: a profile of methods and applications. BioTechniques 2002; 33: 632-49.
44. Herman JG, Graff JR, Myohanen S, et al. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996; 93: 9821-26.
45. Ahrendt SA, Chow JT, Xu L, Yang SC, et al. Molecular detection of tumor cells in bronchoalveolar lavage fluid from patients with early stage lung cancer. J Natl Cancer Inst 1999; 91: 332-39.
46. Sanchez-Cespedes M, Esteller M, Hibi K, et al. Molecular detection of neoplastic cells in lymph nodes of metastatic colorectal cancer patients predicts recurrence. Clin Cancer Res 1999; 5: 2450-54.
47. Palmisano WA, Divine KK, Saccomanno G, et al. Predicting lung cancer by detecting aberrant promoter methylation in sputum. Cancer Res 2000; 60: 5954-58.
48. Cairns P, Esteller M, Herman JG, et al. Molecular detection of prostate cancer in urine by GSTP1 hypermethylation. Clin Cancer Res 2001; 7: 2727-30.
49. Goessl C, Krause H, Muller M, et al. Fluorescent methylation-specific polymerase chain reaction for DNA-based detection of prostate cancer in bodily fluids. Cancer Res 2000; 60: 5941-45.
50. Evron E, Dooley WC, Umbricht CB, et al. Detection of breast cancer cells in ductal lavage fluid by methylation-specific PCR. Lancet 2001; 357: 1335-36.
51. Rosas SL, Koch W, da Costa Carvalho MG, et al. Promoter hypermethylation patterns of p16, O6-methylguanine-DNA-methyltransferase, and death-associated protein kinase in tumors and saliva of head and neck cancer patients. Cancer Res 2001; 61: 939-42.
52. Esteller M, Sanchez-Cespedes M, Resell R, et al. Detection of aberrant promoter methylation of tumor suppressor genes in serum DNA from non-small cell lung cancer patients. Cancer Res 1999; 59: 67-70.
53. Sanchez-Cespedes M, Esteller M, Wu L, et al. Gene promoter hypermethylation in tumors and serum of head and neck cancer patients. Cancer Res 2000; 60: 892-95.
54. Kawakami K, Brabender J, Lord RV, et al. Hypermethylated APC DNA in plasma and prognosis of patients with esophageal adenocarcinoma. J Natl Cancer Inst 2000; 92: 1805-11.
55. Grady WM, Rajput A, Lutterbaugh JD, et al. Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer. Cancer Res 2001; 61: 900-02.
56. Tang X, Khuri FR, Lee JJ, et al. Hypermethylation of the death-associated protein (DAP) kinase promoter and aggressiveness in stage I non-small-cell lung cancer. J Natl Cancer Inst 2000; 92: 1511-16.
57. Esteller M, Gonzalez S, Risques RA, et al. K-ras and p16 alterations confer poor prognosis in human colorectal cancer. J Clin Oncol 2001; 19: 299-304.
58. Esteller M, Garcia-Foncillas J, Andion E, et al. Activity of the DNA repair gene MGMT and the clinical response of gliomas to alkylating agents. New Engl J Med 2000; 343: 1350-54.
59. Gerson SL. Clinical relevance of MGMT in the treatment of cancer. J Clin Oncol 2002; 20: 2388-99.
60. Exteller M, Herman JG. Generating mutations, but providing chemosensitivity: the splash of O6-methylguanine DNA methyltransferase (MGMT) in human cancer. Oncogene 2003, in press.
61. Esteller M, Gaidano G, Goodman SN, et al. Hypermethylation of the DNA repair gene O6-methylguanine DNA methyltransferase and survival of patients with diffuse large B-cell lymphoma. J Natl Cancer Inst 2002; 94: 26-32.
62. Plumb JA, Strathdee G, Sludden J, et al. Reversal of drug resistance in human tumor xenografts by 2′-deoxy-5-azacytidine-induced demethylation of the hMLH1 gene promoter. Cancer Res 2000; 60: 6039-44.
63. Tew KD, Ronai Z. GST function in drug and stress response. Drug Resist Updat 1999; 2: 143-47.
64. Lafarge S, Sylvain V, Ferrara M, et al. Inhibition of BRCA1 leads to increased chemoresistance to microtubule-interfering agents, an effect that involves the JNK pathway. Oncogene 2001; 20: 6597-606.
65. Kusaba H, Nakayama M, Harada T, et al. Association of 5′ CpG demethylation and altered chromatin structure in the promoter region with transcriptional activation of the multidrug resistance 1 gene in human cancer cells. Eur J Biochem 1999; 262: 924-32.
66. Villar-Garea A, Esteller M. DNA demethylating agents and chromatin-remodelling drugs: which, how and why. Curr Drug Metab 2003; 4: 11-31.
67. Christman JK. 5-Azacytidine and 5-aza-2′-deoxycytidine as inhibitors of DNA methylation: mechanistic studies and their implications for cancer therapy. Oncogene 2002; 21: 5483-95.
68. Paz MF, Fraga MF, Avila S, et al. A systematic profile of DNA methylation in human cancer cell lines. Cancer Res 2003; 63: 1114-21.
69. Wijermans PW, Krulder JW, Huijgens PC, et al. Continuous infusion of low-dose 5-Aza-2′-deoxycytidine in elderly patients with high-risk myelodysplastic syndrome. Leukemia 1997; 11: 1-5.
70. Schwartsmann G, Fernandes MS, Schaan MD, et al. Decitabine (5-Aza-2′-deoxycytidine; DAC) plus daunorubicin as a first line treatment in patients with acute myeloid leukemia: preliminary observations. Leukemia 1997; 11 (suppl): S28-31.
71. Wijermans P, Lubbert M, Verhoef G, et al. Low-dose 5-aza-2′-deoxycytidine, a DNA hypomethylating agent, for the treatment of high-risk myelodysplastic syndrome: a multicenter phase II study in elderly patients. J Clin Oncol 2000; 18: 956-62.
72. Cameron EE, Bachman KE, Myohanen S, et al. Synergy of demethylation and histone deacetylase inhibition in the reexpression of genes silenced in cancer. Nat Genet 1999; 21: 103-07.
73. Ballestar E, Esteller M. The impact of chromatin in human cancer: linking DNA methylation to gene silencing. Carcinogenesis 2002; 23: 1103-09.
74. Daskalakis M, Nguyen TT, Nguyen C, et al. Demethylation of a hypermethylated P15/INK4B gene in patients with myelodysplastic syndrome by 5-Aza-2′-deoxycytidine (decitabine) treatment. Blood 2002; 100: 2957-64.
75. Lo Coco F, Zelent A, Kimchi A, et al. Progress in differentiation induction as a treatment for acute promyelocytic leukemia and beyond. Cancer Res 2002; 62: 5618-21.
76. Soengas MS, Capodieci P, Polsky D, et al. Inactivation of the apoptosis effector Apaf-1 in melanoma. Nature 2001; 409: 207-11.