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Cancer Biomarkers in Body Fluids pp 103–123Cite as

Methylated DNA as Cancer Biomarkers in Circulation

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DNA methylation in cancer

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References

  1. Tan HK, Saulnier P, Auperin A, et al. Quantitative methylation analyses of resection margins predict local recurrences and disease-specific deaths in patients with head and neck squamous cell carcinomas. Br J Cancer. 2008;99:357–63.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Supic G, Kozomara R, Jovic N, et al. Prognostic significance of tumor-related genes hypermethylation detected in cancer-free surgical margins of oral squamous cell carcinomas. Oral Oncol. 2011;47:702–8.

    Article  CAS  PubMed  Google Scholar 

  3. Schussel J, Zhou XC, Zhang Z, et al. EDNRB and DCC salivary rinse hypermethylation has a similar performance as expert clinical examination in discrimination of oral cancer/dysplasia versus benign lesions. Clin Cancer Res. 2013;19:3268–75.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Peng DF, Kanai Y, Sawada M, et al. Increased DNA methyltransferase 1 (DNMT1) protein expression in precancerous conditions and ductal carcinomas of the pancreas. Cancer Sci. 2005;96:403–8.

    Article  CAS  PubMed  Google Scholar 

  5. House MG, Guo M, Iacobuzio-Donahue C, Herman JG. Molecular progression of promoter methylation in intraductal papillary mucinous neoplasms (IPMN) of the pancreas. Carcinogenesis. 2003;24:193–8.

    Article  CAS  PubMed  Google Scholar 

  6. Sato N, Fukushima N, Hruban RH, Goggins M. CpG island methylation profile of pancreatic intraepithelial neoplasia. Mod Pathol. 2008;21:238–44.

    Article  CAS  PubMed  Google Scholar 

  7. Lee JH, Park SJ, Abraham SC, et al. Frequent CpG island methylation in precursor lesions and early gastric adenocarcinomas. Oncogene. 2004;23:4646–54.

    Article  CAS  PubMed  Google Scholar 

  8. Brooks JD, Weinstein M, Lin X, et al. CG island methylation changes near the GSTP1 gene in prostatic intraepithelial neoplasia. Cancer Epidemiol Biomarkers Prev. 1998;7:531–6.

    CAS  PubMed  Google Scholar 

  9. Esteller M, Sanchez-Cespedes M, Rosell R, et al. Detection of aberrant promoter hypermethylation of tumor suppressor genes in serum DNA from non-small cell lung cancer patients. Cancer Res. 1999;59:67–70.

    CAS  PubMed  Google Scholar 

  10. Wong IH, Lo YM, Zhang J, et al. Detection of aberrant p16 methylation in the plasma and serum of liver cancer patients. Cancer Res. 1999;59:71–3.

    CAS  PubMed  Google Scholar 

  11. Church TR, Wandell M, Lofton-Day C, et al. Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer. Gut. 2014;63:317–25.

    Article  CAS  PubMed  Google Scholar 

  12. Lange CP, Campan M, Hinoue T, et al. Genome-scale discovery of DNA-methylation biomarkers for blood-based detection of colorectal cancer. PLoS One. 2012;7:e50266.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Kneip C, Schmidt B, Seegebarth A, et al. SHOX2 DNA methylation is a biomarker for the diagnosis of lung cancer in plasma. J Thorac Oncol. 2011;6:1632–8.

    Article  PubMed  Google Scholar 

  14. Li B, Wang B, Niu LJ, et al. Hypermethylation of multiple tumor-related genes associated with DNMT3b up-regulation served as a biomarker for early diagnosis of esophageal squamous cell carcinoma. Epigenetics. 2011;6:307–16.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Huang ZH, Hu Y, Hua D, et al. Quantitative analysis of multiple methylated genes in plasma for the diagnosis and prognosis of hepatocellular carcinoma. Exp Mol Pathol. 2011;91:702–7.

    Article  CAS  PubMed  Google Scholar 

  16. Salvianti F, Orlando C, Massi D, et al. Tumor-related methylated cell-free DNA and circulating tumor cells in melanoma. Front Mol Biosci. 2015;2:76.

    PubMed  Google Scholar 

  17. Liggett TE, Melnikov A, Yi Q, et al. Distinctive DNA methylation patterns of cell-free plasma DNA in women with malignant ovarian tumors. Gynecol Oncol. 2011;120:113–20.

    Article  CAS  PubMed  Google Scholar 

  18. Fu D, Ren C, Tan H, et al. Sox17 promoter methylation in plasma DNA is associated with poor survival and can be used as a prognostic factor in breast cancer. Medicine (Baltimore). 2015;94:e637.

    Article  CAS  Google Scholar 

  19. Fujita N, Nakayama T, Yamamoto N, et al. Methylated DNA and total DNA in serum detected by one-step methylation-specific PCR is predictive of poor prognosis for breast cancer patients. Oncology. 2012;83:273–82.

    Article  CAS  PubMed  Google Scholar 

  20. Mirza S, Sharma G, Parshad R, et al. Clinical significance of promoter hypermethylation of ERbeta and RARbeta2 in tumor and serum DNA in Indian breast cancer patients. Ann Surg Oncol. 2012;19:3107–15.

    Article  PubMed  Google Scholar 

  21. Balgkouranidou I, Karayiannakis A, Matthaios D, et al. Assessment of SOX17 DNA methylation in cell free DNA from patients with operable gastric cancer. Association with prognostic variables and survival. Clin Chem Lab Med. 2013;51:1505–10.

    Article  CAS  PubMed  Google Scholar 

  22. Yu JL, Lv P, Han J, et al. Methylated TIMP-3 DNA in body fluids is an independent prognostic factor for gastric cancer. Arch Pathol Lab Med. 2014;138:1466–73.

    Article  PubMed  Google Scholar 

  23. Ling ZQ, Lv P, Lu XX, et al. Circulating methylated DNA indicates poor prognosis for gastric cancer. PLoS One. 2013;8:e67195.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Diehl F, Schmidt K, Choti MA, et al. Circulating mutant DNA to assess tumor dynamics. Nat Med. 2008;14:985–90.

    Article  CAS  PubMed  Google Scholar 

  25. Wong IH, Zhang J, Lai PB, et al. Quantitative analysis of tumor-derived methylated p16INK4a sequences in plasma, serum, and blood cells of hepatocellular carcinoma patients. Clin Cancer Res. 2003;9:1047–52.

    CAS  PubMed  Google Scholar 

  26. Liggett TE, Melnikov AA, Marks JR, Levenson VV. Methylation patterns in cell-free plasma DNA reflect removal of the primary tumor and drug treatment of breast cancer patients. Int J Cancer. 2011;128:492–9.

    Article  CAS  PubMed  Google Scholar 

  27. Hoffmann AC, Vallbohmer D, Prenzel K, et al. Methylated DAPK and APC promoter DNA detection in peripheral blood is significantly associated with apparent residual tumor and outcome. J Cancer Res Clin Oncol. 2009;135:1231–7.

    Article  CAS  PubMed  Google Scholar 

  28. Sakakura C, Hamada T, Miyagawa K, et al. Quantitative analysis of tumor-derived methylated RUNX3 sequences in the serum of gastric cancer patients. Anticancer Res. 2009;29:2619–25.

    CAS  PubMed  Google Scholar 

  29. Fiegl H, Millinger S, Mueller-Holzner E, et al. Circulating tumor-specific DNA: a marker for monitoring efficacy of adjuvant therapy in cancer patients. Cancer Res. 2005;65:1141–5.

    Article  CAS  PubMed  Google Scholar 

  30. Fackler MJ, Lopez Bujanda Z, Umbricht C, et al. Novel methylated biomarkers and a robust assay to detect circulating tumor DNA in metastatic breast cancer. Cancer Res. 2014;74:2160–70.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Zurita M, Lara PC, del Moral R, et al. Hypermethylated 14-3-3-sigma and ESR1 gene promoters in serum as candidate biomarkers for the diagnosis and treatment efficacy of breast cancer metastasis. BMC Cancer. 2010;10:217.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Sharma G, Mirza S, Parshad R, et al. DNA methylation of circulating DNA: a marker for monitoring efficacy of neoadjuvant chemotherapy in breast cancer patients. Tumour Biol. 2012;33:1837–43.

    Article  CAS  PubMed  Google Scholar 

  33. Ramirez JL, Rosell R, Taron M, et al. 14-3-3sigma methylation in pretreatment serum circulating DNA of cisplatin-plus-gemcitabine-treated advanced non-small-cell lung cancer patients predicts survival: The Spanish Lung Cancer Group. J Clin Oncol. 2005;23:9105–12.

    Article  CAS  PubMed  Google Scholar 

  34. Ponomaryova AA, Rykova EY, Cherdyntseva NV, et al. Potentialities of aberrantly methylated circulating DNA for diagnostics and post-treatment follow-up of lung cancer patients. Lung Cancer. 2013;81:397–403.

    Article  PubMed  Google Scholar 

  35. Schmidt B, Beyer J, Dietrich D, et al. Quantification of cell-free mSHOX2 Plasma DNA for therapy monitoring in advanced stage non-small cell (NSCLC) and small-cell lung cancer (SCLC) patients. PLoS One. 2015;10:e0118195.

    Article  PubMed  PubMed Central  Google Scholar 

  36. Mahon KL, Qu W, Devaney J, et al. Methylated Glutathione S-transferase 1 (mGSTP1) is a potential plasma free DNA epigenetic marker of prognosis and response to chemotherapy in castrate-resistant prostate cancer. Br J Cancer. 2014;111:1802–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Carmona FJ, Davalos V, Vidal E, et al. A comprehensive DNA methylation profile of epithelial-to-mesenchymal transition. Cancer Res. 2014;74:5608–19.

    Article  CAS  PubMed  Google Scholar 

  38. Steeg PS, Ouatas T, Halverson D, et al. Metastasis suppressor genes: basic biology and potential clinical use. Clin Breast Cancer. 2003;4:51–62.

    Article  CAS  PubMed  Google Scholar 

  39. Guo H, Zhu P, Wu X, et al. Single-cell methylome landscapes of mouse embryonic stem cells and early embryos analyzed using reduced representation bisulfite sequencing. Genome Res. 2013;23:2126–35.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  40. Gravina S, Ganapathi S, Vijg J. Single-cell, locus-specific bisulfite sequencing (SLBS) for direct detection of epimutations in DNA methylation patterns. Nucleic Acids Res. 2015;43:e93.

    Article  PubMed  PubMed Central  Google Scholar 

  41. Ogunwobi OO, Puszyk W, Dong HJ, Liu C. Epigenetic upregulation of HGF and c-Met drives metastasis in hepatocellular carcinoma. PLoS One. 2013;8:e63765.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  42. Chimonidou M, Strati A, Tzitzira A, et al. DNA methylation of tumor suppressor and metastasis suppressor genes in circulating tumor cells. Clin Chem. 2011;57:1169–77.

    Article  CAS  PubMed  Google Scholar 

  43. Chimonidou M, Strati A, Malamos N, et al. SOX17 promoter methylation in circulating tumor cells and matched cell-free DNA isolated from plasma of patients with breast cancer. Clin Chem. 2013;59:270–9.

    Article  CAS  PubMed  Google Scholar 

  44. Chimonidou M, Kallergi G, Georgoulias V, et al. Breast cancer metastasis suppressor-1 promoter methylation in primary breast tumors and corresponding circulating tumor cells. Mol Cancer Res. 2013;11:1248–57.

    Article  CAS  PubMed  Google Scholar 

  45. Friedlander TW, Ngo VT, Dong H, et al. Detection and characterization of invasive circulating tumor cells derived from men with metastatic castration-resistant prostate cancer. Int J Cancer. 2014;134:2284–93.

    Article  CAS  PubMed  Google Scholar 

  46. 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.

    CAS  PubMed  Google Scholar 

  47. Righini CA, de Fraipont F, Timsit JF, et al. Tumor-specific methylation in saliva: a promising biomarker for early detection of head and neck cancer recurrence. Clin Cancer Res. 2007;13:1179–85.

    Article  CAS  PubMed  Google Scholar 

  48. Demokan S, Chang X, Chuang A, et al. KIF1A and EDNRB are differentially methylated in primary HNSCC and salivary rinses. Int J Cancer. 2010;127:2351–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  49. Longo AL, Rettori MM, de Carvalho AC, et al. Evaluation of the methylation profile of exfoliated cell samples from patients with head and neck squamous cell carcinoma. Head Neck. 2014;36:631–7.

    Article  PubMed  Google Scholar 

  50. Subbalekha K, Pimkhaokham A, Pavasant P, et al. Detection of LINE-1s hypomethylation in oral rinses of oral squamous cell carcinoma patients. Oral Oncol. 2009;45:184–91.

    Article  CAS  PubMed  Google Scholar 

  51. Pobsook T, Subbalekha K, Sannikorn P, Mutirangura A. Improved measurement of LINE-1 sequence methylation for cancer detection. Clin Chim Acta. 2011;412:314–21.

    Article  CAS  PubMed  Google Scholar 

  52. Rettori MM, de Carvalho AC, Bomfim Longo AL, et al. Prognostic significance of TIMP3 hypermethylation in post-treatment salivary rinse from head and neck squamous cell carcinoma patients. Carcinogenesis. 2013;34:20–7.

    Article  CAS  PubMed  Google Scholar 

  53. Carvalho AL, Henrique R, Jeronimo C, et al. Detection of promoter hypermethylation in salivary rinses as a biomarker for head and neck squamous cell carcinoma surveillance. Clin Cancer Res. 2011;17:4782–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Sun W, Zaboli D, Wang H, et al. Detection of TIMP3 promoter hypermethylation in salivary rinse as an independent predictor of local recurrence-free survival in head and neck cancer. Clin Cancer Res. 2012;18:1082–91.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Liu Y, An Q, Li L, et al. Hypermethylation of p16INK4a in Chinese lung cancer patients: biological and clinical implications. Carcinogenesis. 2003;24:1897–901.

    Article  CAS  PubMed  Google Scholar 

  56. Costa VL, Henrique R, Danielsen SA, et al. Three epigenetic biomarkers, GDF15, TMEFF2, and VIM, accurately predict bladder cancer from DNA-based analyses of urine samples. Clin Cancer Res. 2010;16:5842–51.

    Article  CAS  PubMed  Google Scholar 

  57. Eissa S, Swellam M, El-Khouly IM, et al. Aberrant methylation of RARbeta2 and APC genes in voided urine as molecular markers for early detection of bilharzial and nonbilharzial bladder cancer. Cancer Epidemiol Biomarkers Prev. 2011;20:1657–64.

    Article  CAS  PubMed  Google Scholar 

  58. Reinert T, Modin C, Castano FM, et al. Comprehensive genome methylation analysis in bladder cancer: identification and validation of novel methylated genes and application of these as urinary tumor markers. Clin Cancer Res. 2011;17:5582–92.

    Article  CAS  Google Scholar 

  59. Daniunaite K, Berezniakovas A, Jankevicius F, et al. Frequent methylation of RASSF1 and RARB in urine sediments from patients with early stage prostate cancer. Medicina (Kaunas). 2011;47:147–53.

    Google Scholar 

  60. Vaissiere T, Cuenin C, Paliwal A, et al. Quantitative analysis of DNA methylation after whole bisulfitome amplification of a minute amount of DNA from body fluids. Epigenetics. 2009;4:221–30.

    Article  CAS  PubMed  Google Scholar 

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  1. Medical Sciences Division Northern Ontario School of Medicine, West Campus, Lakehead University, Thunder Bay, Ontario, Canada

    Gabriel D. Dakubo

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Dakubo, G.D. (2016). Methylated DNA as Cancer Biomarkers in Circulation. In: Cancer Biomarkers in Body Fluids. Springer, Cham. https://doi.org/10.1007/978-3-319-01580-4_4

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