DNA methylation as a cancer-specific biomarker: From molecules to populations

Annals of the New York Academy of Sciences

Volumn 983, Issue , 2003, Pages 286-297

  Patel, Arti ^a   Groopman, John D ^b   Umar, Asad ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Biomarkers; DNA methylation; Early cancer detection; Serum markers

Indexed keywords

BIOLOGICAL MARKER; TUMOR MARKER;

CANCER DIAGNOSIS; CANCER GROWTH; CANCER MORTALITY; CANCER PREVENTION; CANCER SCREENING; CANCER THERAPY; CONFERENCE PAPER; DIAGNOSTIC PROCEDURE; DNA METHYLATION; EARLY DIAGNOSIS; HUMAN; MORBIDITY;

EID: 0037357246     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2003.tb05983.x     Document Type: Conference Paper

References (84)

1. HANAHAN, D. & R.A. WEINBERG. 2000. The hallmarks of cancer. Cell 100: 57-70.
2. FREI, E. 1996. Pathobiology of Cancer: 1-22. Scientific American Medicine.
3. PARKIN, D.M. 2001. Global cancer statistics in the year 2000. Lancet Oncol. 2: 533-543.
4. JEMAL, A., A. THOMAS, T. MURRAY & M. THUN. 2002. Cancer statistics, 2002. CA Cancer J. Clin. 52: 23-47.
5. 2002. Cancer Facts and Figures. http://www.cancer.org/downloads/STT/Cancer-Facts&Figures2002TM.pdf.
6. THOMAS, C.R. et al. 2001. Lung cancer. In Clinical Oncology. R.E. Lenhard, R.T. Osteen & T. Gansler, Eds.: 269-296. American Cancer Society. Atlanta, GA.
7. RIVERA, M.P. & F.C. DETTERBECK. 2001. Clinical presentation and diagnosis. In Diagnosis and Treatment of Lung Cancer: An Evidence-Based Guide for the Practicing Clinician. F.C. Detterbeck el al., Eds.: 25-44. W.B. Saunders Company. Philadelphia.
8. HART, A.R. 1999. Pancreatic cancer: any prospects for prevention? Postgrad. Med. J. 75: 521-526.
9. CARRIAGA, M.T. & D.E. HENSON. 1995. Liver, gallbladder, extrahepatic bile ducts, and pancreas. Cancer 75: 171-190.
10. MENON, U. & I.J. JACOBS. 2001. Ovarian cancer screening in the general population. Curr. Opin. Obstet. Gynecol. 13: 61-64.
11. SRIVASTAVA, S. & B.S. KRAMER. 2000. Early detection cancer research network. Lab. Invest. 80: 1147-1148.
12. 1997. Application of biomarkers in cancer epidemiology. Workshop report: 1-18. IARC Scientific Publications. Lyon, France.
13. GROOPMAN, J.D. & T.W. KENSLER. 1999. The light at the end of the tunnel for chemical-specific biomarkers: daylight or headlight? Carcinogenesis 20: 1-11.
14. HUNTER, D.J. 1997. Methodological issues in the use of biological markers in cancer epidemiology: cohort studies: 39-46. IARC Scientific Publications. Lyon, France.
15. WUNSCH FILHO, V. & G.J. GATTAS. 2001. [Molecular biomarkers in cancer: implications for epidemiological research and public health]. Cad. Saude Publica 17: 467-480.
16. FABIAN, C.J. & B.F. KIMLER. 2001. Chemoprevention for high-risk women: tamoxifen and beyond. Breast J. 7: 311-320.
17. LITTRUP, P.J. 1994. The American Cancer Society's National Prostate Cancer Detection Project. Can. J. Oncol. 4 (Suppl 1): 65-69.
18. WOLPAW, D.R. 1996. Early detection in lung cancer. Case finding and screening. Med. Clin. North Am. 80: 63-82.
19. PETRICOIN, E.F. et al. 2002. Use ofproteomic patterns in serum to identify ovarian cancer. Lancet 359: 572-577.
20. 2000. The Early Detection Research Network: Translation Research to Identify Early Cancer and Cancer Risk: 1-44.
21. KRAMER, B.S. & O.W. BRAWLEY. 2000. Cancer screening. Hematoh Oncol. Clin. North Am. 14: 831-848.
22. ARDEKANI, A.M., L.A. LIOTTA & E.F. PETRICOIN, 3RD. 2002. Clinical potential of proteomics in the diagnosis of ovarian cancer. Expert Rev. Mol. Diagn. 2: 312-320.
23. JONES, M.B. et al. 2002. Proteomic analysis and identification of new biomarkers and therapeutic targets for invasive ovarian cancer. Proteomics 2: 76-84.
24. GALEN, B. et al. 2002. Congressional update: Report from the Biomedical Imaging Program of the National Cancer Institute. American College of Radiology Imaging Network: The digital mammographic imaging screening trial - an update. Acad. Radiol. 9: 374-375.
25. 2001. Advisors approve lung screening trial testing spiral ct vs. x-ray, for $200m. Cancer Lett. 27: 1-8.
26. CLARKE, L.P. et al. 2001. National Cancer Institute initiative: Lung image database resource for imaging research. Acad. Radiol. 8: 447-450.
27. WIDSCHWENDTER, M. & P.A. JONES. 2002. The potential prognostic, predictive, and therapeutic values of DNA methylation in cancer. Commentary re: J. Kwong et al., Promoter hypermethylation of multiple genes in nasopharyngeal carcinoma. Clin. Cancer Res., 8: 131-137, 2002, and H-Z. Zou et al., Detection of aberrant p16 methylation in the serum of colorectal cancer patients. Clin. Cancer Res., 8: 188-191, Clin. Cancer Res. 8: 17-21.
28. WIDSCHWENDTER, M. & P.A. JONES. 2002. The potential prognostic, predictive, and therapeutic values of DNA methylation in cancer. Commentary re: J. Kwong et al., Promoter hypermethylation of multiple genes in nasopharyngeal carcinoma. Clin. Cancer Res., 8: 131-137, 2002, and H-Z. Zou et al., Detection of aberrant p16 methylation in the serum of colorectal cancer patients. Clin. Cancer Res., 8: 188-191, Clin. Cancer Res. 8: 17-21.
29. WIDSCHWENDTER, M. & P.A. JONES. 2002. The potential prognostic, predictive, and therapeutic values of DNA methylation in cancer. Commentary re: J. Kwong et al., Promoter hypermethylation of multiple genes in nasopharyngeal carcinoma. Clin. Cancer Res., 8: 131-137, 2002, and H-Z. Zou et al., Detection of aberrant p16 methylation in the serum of colorectal cancer patients. Clin. Cancer Res., 8: 188-191, Clin. Cancer Res. 8: 17-21.
30. ANKER, P. et al. 1999. Detection of circulating tumour DNA in the blood (plasma/serum) of cancer patients. Cancer Metastasis Rev. 18: 65-73.
31. KAWAKAMI, K. et al. 2000. Hypermethylated APC DNA in plasma and prognosis of patients with esophageal adenocarcinoma. J. Natl. Cancer Inst. 92: 1805-1811.
32. GAZDAR, A.F. 1994. The molecular and cellular basis of human lung cancer. Anticancer Res. 14: 261-267.
33. GAZDAR, A.F. et al. 1994. Molecular genetic changes found in human lung cancer and its precursor lesions. Cold Spring Harbor Symp. Quant. Biol. 59: 565-572.
34. DAVILA, D.G. & D.E. WILLIAMS. 1993. The etiology of lung cancer. Mayo Clin. Proc. 68: 170-182.
35. ZINGG, J.M. & P.A. JONES. 1997. Genetic and epigenetic aspects of DNA methylation on genome expression, evolution, mutation and carcinogenesis. Carcinogenesis 18: 869-882.
36. GONZALGO, M.L. et al. 1997. Identification and characterization of differentially methylated regions of genomic DNA by methylation-sensitive arbitrarily primed PCR. Cancer Res. 57: 594-599.
37. BESTOR, T.H. 1990. DNA methylation: evolution of a bacterial immune function into a regulator of gene expression and genome structure in higher eukaryotes. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 326: 179-187.
38. BAYLIN, S.B. et al. 1998. Alterations in DNA methylation: a fundamental aspect of neoplasia. Adv. Cancer Res. 72: 141-196.
39. AHUJA, N. et al. 1998. Aging and DNA methylation in colorectal mucosa and cancer. Cancer Res. 58: 5489-5494.
40. FULDA, S. et al. 2001. Sensitization for death receptor- or drug-induced apoptosis by re-expression of caspase-8 through demethylation or gene transfer. Oncogene 20: 5865-5877.
41. KISSIL, J.L. & A. KIMCHI. 1997. Assignment of death associated protein 3 (DAP3) to human chromosome 1q21 by in situ hybridization. Cytogenet. Cell Genet. 77: 252.
42. WIDSCHWENDTER, M. et al. 2000. Methylation and silencing of the retinoic acid receptor-beta2 gene in breast cancer. J. Natl. Cancer Inst. 92: 826-832.
43. ZHENG, S. et al. 2000. Correlations of partial and extensive inethylation at the p14(ARF) locus with reduced mRNA expression in colorectal cancer cell lines and clinicopathological features in primary tumors. Carcinogenesis 21: 2057-2064.
44. KURAKAWA, E. et al. 2001. Hypermethylation ofpl6(INK4a) and p15(INK4b) genes in non-small cell lung cancer. Int. J. Oncol. 19: 277-281.
45. CHEN, J.T. et al. 2002. Alterations of the p16(ink4a) gene in resected nonsmall cell lung tumors and exfoliated cells within sputum. Int. J. Cancer 98: 724-731.
46. KERSTING, M. et al. 2000. Differential frequencies of p 16(INK4a) promoter hypermethylation p53 mutation, and K-ras mutation in exfoliative material mark the development of lung cancer in symptomatic chronic smokers. J. Clin. Oncol. 18: 3221-3229.
47. KOHNO, T. et al. 1998. Identification of CpG islands hypermethylated in human lung cancer by the arbitrarily primed-PCR method. Hum. Genet. 102: 258-264.
48. VIRMANI, A.K. et al. 2000. Promoter methylation and silencing of the retinoic acid receptor-beta gene in lung carcinomas. J. Natl. Cancer Inst. 92: 1303-1307.
49. KIM, D.H. et al. 2001. Promoter methylation of DAP-kinase: association with advanced stage in non-small cell lung cancer. Oncogene 20: 1765-1770.
50. KIM, D.H. et al. 2001. p16(INK4a) and histology-specific methylation of CpG islands by exposure to tobacco smoke in non-small cell lung cancer. Cancer Res. 61: 3419-3424.
51. DAMMANN, R., T. TAKAHASHI & G.P. PFEIFER. 2001. The CpG island of the novel tumor suppressor gene RASSF1A is intensely methylated in primary small cell lung carcinomas. Oncogene 20: 3563-3567.
52. DAMMANN, R. et al. 2000. Epigenetic inactivation of a RAS association domain family protein from the lung tumour suppressor locus 3p21.3. Nat. Genet. 25: 315-319.
53. MAREK, W. et al. 2001. Can semi-automated image cytometry on induced Sputum become a screening tool for lung cancer? Evaluation of quantitative semi-automated sputum cytometry on radon- and uranium-exposed workers. Eur. Respir. J. 18: 942-50.
54. AHRENDT, S.A. et al. 1999. Molecular detection of tumor cells in bronchoalveolar lavage fluid from patients with early stage lung cancer. J. Natl. Cancer Inst. 91: 332-339.
55. BELINSKY, S.A. et al. 1998. Aberrant methylation of p16(INK4a) is an early event in lung cancer and a potential biomarker for early diagnosis. Proc. Natl. Acad. Sci. USA 95: 11891-11896.
56. PALMISANO, W.A. et al. 2000. Predicting lung cancer by detecting aberrant promoter methylation in sputum. Cancer Res. 60: 5954-5958.
57. EADS, C.A. et al. 2000. MethyLight: a high-throughput assay to measure DNA methylation. Nucleic Acids Res. 28: E32.
58. DAI, Z. et al. 2001. Global methylation profiling of lung cancer identifies novel methylated genes. Neoplasia 3: 314-323.
59. ESTELLER, M. et al. 1999. Detection of aberrant promoter hypermethylation of tumor suppressor genes in serum DNA from non-small cell lung cancer patients. Cancer Res. 59: 67-70.
60. FONG, K.M., Y. SEKIDO & J.D. MINNA. 1999. Molecular pathogenesis of lung cancer. J. Thorac. Cardiovasc. Surg. 118: 1136-1152.
61. FONG, K.M. & J.D. MINNA. 2002. Molecular biology of lung cancer: clinical implications. Clin. Chest Med. 23: 83-101.
62. NEGM, R.S., M. VERMA & S. SRIVASTAVA. 2002. The promise of biomarkers in cancer screening and detection. Trends Mol. Med. 8: 288-293.
63. HELZLSOUER, K.J. 1994. The challenges of population screening. In Early Detection of Cancer: Molecular Markers. S. Srivastava et al., Eds.: 77-88. Futura Publishing Co, Armonk, NY.
64. EADS, C.A. et al. 1999. CpG island hypermethylation in human colorectal tumors is not associated with DNA methyltransferase overexpression. Cancer Res. 59: 2302-2306.
65. SCHULTE, P.A., D. HUNTER & N. ROTHMAN. 1997. Ethical and social issues in the use of biomarkers in epidemiological research. In IARC Sci. Publ. Vol. 142. P. Toniolo et al., Eds.: 1-18. International Agency for Research on Cancer. Lyon, France.
66. HERMAN, J.G. et al. 1994. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc. Natl. Acad. Sci. USA 91: 9700-9704.
67. HERMAN, J.G. et al. 1997. Distinct patterns of inactivation of p151NK4B and p l61NK4A characterize the major types of hematological malignancies. Cancer Res. 57: 837-841.
68. GRAFF, J. R. et al. 1995. E-cadherin expression is silenced by DNA hypermethylation in human breast and prostate carcinomas. Cancer Res. 55: 5195-5199.
69. Grady, W. M. et al. 2001. Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer. Cancer Res. 61: 900-902.
70. HERMAN, J.G. et al. 1998. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc. Natl. Acad. Sci. USA 95: 6870-6875.
71. KANE, M.F. et al. 1997. 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: 808-811.
72. DOBROVIC, A. & D. SIMPFENDORFER. 1997. Methylation of the BRCA1 gene in sporadic breast cancer. Cancer Res. 57: 3347-3350.
73. TROJAN, J. et al. 2000. 5′-CpG island methylation of the LKB1/STK11 promoter and allelic loss at chromosome 19p13.3 in sporadic colorectal cancer. Gut 47: 272-276.
74. NGUYEN, T.T. et al. 2000. Analysis of cyclin-dependent kinase inhibitor expression and methylation patterns in human prostate cancers. Prostate 43: 233-242.
75. ESTELLER, M. et al. 2000. Hypermethylation-associated inactivation of p14(ARF) is independent of p16(INK4a) methylation and p53 mutational status. Cancer Res. 60: 129-133.
76. HERMAN, J.G. et al. 1996. Hypermethylation-associated inactivation indicates a tumor suppressor role for p15INK4B. Cancer Res. 56: 722-727.
77. ISSA, J.P. et al. 1994. Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat. Genet. 7: 536-540.
78. KONISHI, N. et al. 2002. DNA hypermethylation status of multiple genes in prostate adenocarcinomas. Jpn. J. Cancer Res. 93: 767-773.
79. ESTELLER, M. 2000. Epigenetic lesions causing genetic lesions in human cancer: promoter hypermethylation of DNA repair genes. Eur. J. Cancer 36: 2294-2300.
80. ZOCHBAUER-MULLER, S. et al. 2001. Aberrant promoter methylation of multiple genes in non-small cell lung cancers. Cancer Res. 61: 249-255.
81. CORN, P.G. et al. 1999. Transcriptional silencing of the p73 gene in acute lymphoblastic leukemia and Burkitt's lymphoma is associated with 5′ CpG island methylation. Cancer Res. 59: 3352-3356.
82. KAWANO, S. et al. 1999. Loss of p73 gene expression in leukemias/lymphomas due to hypermethylation. Blood 94: 1113-1120.
83. SIRCHIA, S.M. et al. 2000. Evidence of epigenetic changes affecting the chromatin state of the retinoic acid receptor beta2 promoter in breast cancer cells. Oncogene 19: 1556-1563.
84. ISSA, J.P. et al. 1996. Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis. Proc. Natl. Acad. Sci. USA 93: 11757-11762.