Aberrant DNA methylation associated with MTHFR C677T genetic polymorphism in cutaneous squamous cell carcinoma in renal transplant patients

British Journal of Dermatology

Volumn 163, Issue 2, 2010, Pages 345-352

  Laing, M E ^a   Cummins, R ^a   O'Grady, A ^a   O'Kelly, P ^a   Kay, E W ^a   Murphy, G M ^a  

^a BEAUMONT HOSPITAL   (Ireland)

Author keywords

genetic polymorphism; methylation; methylenetetrahydrofolate reductase; pyrosequencing; squamous cell carcinoma

Indexed keywords

ENZYME VARIANT; METHYLATED DNA PROTEIN CYSTEINE METHYLTRANSFERASE; MTHFR ENZYME; PROTEIN P16; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CIGARETTE SMOKING; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; FEMALE; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; KIDNEY TRANSPLANTATION; MALE; PRIORITY JOURNAL; PYROSEQUENCING; SQUAMOUS CELL CARCINOMA; ULTRAVIOLET RADIATION;

ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, SQUAMOUS CELL; DNA METHYLATION; FEMALE; HUMANS; KIDNEY TRANSPLANTATION; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; NEOPLASM PROTEINS; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA; SKIN NEOPLASMS;

EID: 77954880483     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09774.x     Document Type: Article

References (49)

1. Martinez JC, Otley CC, Stasko T et al. Defining the clinical course of metastatic skin cancer in organ transplant recipients: a multicentre collaborative study. Arch Dermatol 2003 139 : 301 306.
2. Tyler LN, Ai L, Zuo C et al. Analysis of promoter hypermethylation of death-associated protein kinase and p16 tumor suppressor genes in actinic keratoses and squamous cell carcinomas of the skin. Mod Pathol 2003 16 : 660 664.
3. van Doorn R, Gruis N, Willemze R et al. Aberrant DNA methylation in cutaneous malignancies. Semin Oncol 2005 32 : 479 487.
4. Arbiser JL, Fan CT, Su X et al. Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squmous cell carcinoma. J Invest Dermatol 2004 123 : 788 790.
5. Brown VL, Harwood CA, Crook T et al. p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma. J Invest Dermatol 2004 122 : 1284 1292.
6. Sigalotti L, Coral S, Nardi G et al. Promoter methylation controls the expression of MAGE 2, 3 and 4 genes in human cutaneous melanoma. J Immunother 2002 25 : 16 26.
7. Laing ME, Dicker P, Moloney FJ et al. Association of methylenetetrahydrofolate reductase polymorphism and the risk of squamous cell carcinoma in renal transplant patients. Transplantation 2007 84 : 113 116.
8. Han J, Colditz GA, Hunter DJ. Polymorphisms in the MTHFR and VDR genes and skin cancer risk. Carcinogenesis 2007 28 : 390 397.
9. Wang JM, Sasco AJ, Fu CW et al. Aberrant DNA methylation of P16, MGMT, and hMLH1 genes in combination with MTHFR C677T genetic polymorphism in esophageal squamous cell carcinoma. Cancer Epidemiol Biomarkers Prev 2008 17 : 118 125.
10. Xue HC, Wang JM, Xu B et al. Correlation of aberrant methylation of MGMT gene to MTHFR C677T genetic polymorphisms in esophageal squamous cell carcinoma. Ai Zheng 2008 27 : 1256 1262.
11. Takai D, Yagi Y, Habib N et al. Hypomethylation of LINE1 retrotransposon in human hepatocellular carcinomas, but not in surrounding liver cirrhosis. Jpn J Clin Oncol 2000 30 : 306 309.
12. Kazazian HH Jr., Moran JV. The impact of L1 retrotransposons on the human genome. Nat Genet 1998 19 : 19 24.
13. Lander ES, Linton LM, Birren B et al. Initial sequencing and analysis of the human genome. Nature 2001 409 : 860 921.
14. Jin M, Kawakami K, Fukui Y et al. Different histological types of non-small cell lung cancer have distinct folate and DNA methylation levels. Cancer Sci 2009 100 : 2325 2330.
15. Bollati V, Fabris S, Pegoraro V et al. Differential repetitive DNA methylation in multiple myeloma molecular subgroups. Carcinogenesis 2009 30 : 1330 1335.
16. Choi JY, James SR, Link PA et al. Association between global DNA hypomethylation in leukocytes and risk of breast cancer. Carcinogenesis 2009 30 : 1889 1897.
17. Phokaew C, Kowudtitham S, Subbalekha K et al. LINE-1 methylation patterns of different loci in normal and cancerous cells. Nucleic Acids Res 2008 36 : 5704 5712.
18. Florl AR, Lower R, Schmitz-Drager BJ et al. DNA methylation and expression of LINE-1 and HERV-K provirus sequences in urothelial and renal cell carcinomas. Br J Cancer 1999 80 : 1312 1321.
19. Jurgens B, Schmitz-Drager BJ, Schulz WA. Hypomethylation of L1 LINE sequences prevailing in human urothelial carcinoma. Cancer Res 1996 56 : 5698 5703.
20. Smith IM, Mydlarz WK, Mithani SK et al. DNA global hypomethylation in squamous cell head and neck cancer associated with smoking, alcohol consumption and stage. Int J Cancer 2007 121 : 1724 1728.
21. Hsiung DT, Marsit CJ, Houseman EA et al. Global DNA methylation level in whole blood as a biomarker in head and neck squamous cell carcinoma. Cancer Epidemiol Biomarkers Prev 2007 16 : 108 114.
22. Shaw RJ, Liloglou T, Rogers SN et al. Promoter methylation of P16, RARbeta, E-cadherin, cyclin A1 and cytoglobin in oral cancer: quantitative evaluation using pyrosequencing. Br J Cancer 2006 94 : 561 568.
23. Clark SJ, Statham A, Stirzaker C et al. DNA methylation: bisulphite modification and analysis. Nat Protoc 2006 1 : 2353 2364.
24. Tost J, Gut IG. DNA methylation analysis by pyrosequencing. Nat Protoc 2007 2 : 2265 2275.
25. Choi IS, Estecio MR, Nagano Y et al. Hypomethylation of LINE-1 and Alu in well-differentiated neuroendocrine tumors (pancreatic endocrine tumors and carcinoid tumors). Mod Pathol 2007 20 : 802 810.
26. Suter CM, Martin DI, Ward RL. Hypomethylation of L1 retrotransposons in colorectal cancer and adjacent normal tissue. Int J Colorectal Dis 2004 19 : 95 101.
27. Santourlidis S, Florl A, Ackermann R et al. High frequency of alterations in DNA methylation in adenocarcinoma of the prostate. Prostate 1999 39 : 166 174.
28. Dunn BK. Hypomethylation: one side of a larger picture. Ann NY Acad Sci 2003 983 : 28 42.
29. Gaudet F, Hodgson JG, Eden A et al. Induction of tumors in mice by genomic hypomethylation. Science 2003 300 : 489 492.
30. Badal V, Chuang LS, Tan EH et al. CpG methylation of human papillomavirus type 16 DNA in cervical cancer cell lines and in clinical specimens: genomic hypomethylation correlates with carcinogenic progression. J Virol 2003 77 : 6227 6234.
31. Hutchings IA, Tierney RJ, Kelly GL et al. Methylation status of the Epstein-Barr virus (EBV) BamHI W latent cycle promoter and promoter activity: analysis with novel EBV-positive Burkitt and lymphoblastoid cell lines. J Virol 2006 80 : 10700 10711.
32. Karagas MR, Nelson HH, Sehr P et al. Human papillomavirus infection and incidence of squamous cell and basal cell carcinomas of the skin. J Natl Cancer Inst 2006 98 : 1425 1426.
33. Giampieri S, Storey A. Repair of UV-induced thymine dimers is compromised in cells expressing the E6 protein from human papillomaviruses types 5 and 18. Br J Cancer 2004 90 : 2203 2209.
34. Akgül B, García-Escudero R, Ghali L et al. The E7 protein of cutaneous human papillomavirus type 8 causes invasion of human keratinocytes into the dermis in organotypic cultures of skin. Cancer Res 2005 65 : 2216 2223.
35. Kim YI. Folate and DNA methylation: a mechanistic link between folate deficiency and colorectal cancer. Cancer Epidemiol Biomarkers Prev 2004 13 : 511 519.
36. Sharonov A, Gustavsson T, Marguet S, Markovitsi D. Photophysical properties of 5-methylcytidine. Photochem Photobiol Sci 2003 2 : 362 364.
37. Tommasi S, Denissenko MF, Pfeifer GP. Sunlight induces pyrimidine dimers preferentially at 5-methylcytosine bases. Cancer Res 1997 57 : 4727 4730.
38. Pfeifer GP. p53 mutational spectra and the role of methylated CpG sequences. Mutat Res 2000 450 : 155 166.
39. Denissenko MF, Chen JX, Tang MS et al. Cytosine methylation determines hotspots of DNA damage in the human p53 gene. Proc Natl Acad Sci USA 1997 94 : 3893 3898.
40. You YH, Pfeifer GP. Similarities in sunlight-induced mutational spectra of CpG-methylated transgenes and the p53 gene in skin cancer point to an important role of 5-methylcytosine residues in solar UV mutagenesis. J Mol Biol 2001 305 : 389 399.
41. Schwabe M, Lübbert M. Epigenetic lesions in malignant melanoma. Curr Pharm Biotechnol 2007 8 : 382 387.
42. Klisovic RB, Stock W, Cataland S et al. A phase 1 biological study of MG98, an oligonucleotide antisense to DNA methyltransferase 1, in patients with high-risk myelodysplasia and acute myeloid leukemia. Clin Cancer Res 2008 14 : 2444 2449.
43. Yamashita K, Kim MS, Park HL et al. HOP/OB1/NECC1 promoter DNA is frequently hypermethylated and involved in tumorigenic ability in esophageal squamous cell carcinoma. Mol Cancer Res 2008 6 : 31 41.
44. Filho PA, López-Albaitero A, Xi L et al. Quantitative expression and immunogenicity of MAGE-3 and -6 in upper aerodigestive tract cancer. Int J Cancer 2009 125 : 1912 1920.
45. Fraga MF, Agrelo R, Esteller M. Cross-talk between aging and cancer: the epigenetic language. Ann NY Acad Sci 2007 1100 : 60 74.
46. Suzuki K, Suzuki I, Leodolter A et al. Global DNA demethylation in gastrointestinal cancer is age dependent and precedes genomic damage. Cancer Cell 2006 9 : 199 207.
47. Murao K, Kubo Y, Ohtani N et al. Epigenetic abnormalities in cutaneous squamous cell carcinoma: frequent inactivation of the RB1/p16 and p53 pathways. Br J Dermatol 2006 155 : 999 1005.
48. Fraga MF, Herranz M, Espada J et al. A mouse skin multistage carcinogenesis model reflects the aberrant DNA methylation patterns of human tumors. Cancer Res 2004 64 : 5527 5534.
49. Millington GW. Epigenetics and dermatological disease. Pharmacogenomics 2008 9 : 1835 1850.