Journal List > Hanyang Med Rev > v.33(3) > 1044156

Tae: Head and Neck Squamous Cell Carcinoma: Genetic Polymorphisms and Occurrence Risks

Abstract

Head and neck squamous cell carcinoma (HNSCC), which is the 5th most common cancer worldwide, is believed to be induced by environmental carcinogens and host genetic factors. The main etiologic environmental factors are tobacco, alcohol, viral infection, nutritional deficit, mineral inhalation and history of radiation exposure. Accumulating evidence has shown that genetic polymorphisms influence the risk of environmental carcinogenesis, and that genetic susceptibility plays an important role in the development of HNSCC. Genetic susceptibility to HNSCC may be due to genetic polymorphisms in genes controlling both carcinogen metabolism and repair of DNA damage. We analyzed the associations between genetic polymorphisms in the xenobiotics metabolizing gene, alcohol metabolizing gene and DNA repair genes and the risk of HNSCC in an at-risk Korean population. In conclusion, ADH1B +3170A>G His48Arg and XRCC1 R194W (C>T) polymorphism are associated with an increased risk of HNSCC, and these genotypes could be useful biomarkers for identifying Koreans with a greater risk of HNSCC.

Figures and Tables

Table 1
Genetic polymorphism of xenobiotic metabolism gene, alcohol metabolism gene, and DNA repair gene and risk of head and neck squamous cell carcinoma
hmr-33-170-i001

OR (95% CI); odds ratios (95% confidential interval).

References

1. Marur S, Forastiere AA. Head and neck cancer: changing epidemiology, diagnosis, and treatment. Mayo Clin Proc. 2008; 83:489–501.
crossref
2. Perera FP. Environment and cancer: who are susceptible? Science. 1997; 278:1068–1073.
crossref
3. Raunio H, Husgafvel-Pursiainen K, Anttila S, Hietanen E, Hirvonen A, Pelkonen O. Diagnosis of polymorphisms in carcinogen-activating and inactivating enzymes and cancer susceptibility--a review. Gene. 1995; 159:113–121.
crossref
4. de Andrade M, Amos CI, Foulkes WD. Segregation analysis of squamous cell carcinoma of the head and neck: evidence for a major gene determining risk. Ann Hum Genet. 1998; 62:505–510.
crossref
5. Tae K, Lee HS, Park BJ, Park CW, Kim KR, Cho HY, et al. Association of DNA repair gene XRCC1 polymorphisms with head and neck cancer in Korean population. Int J Cancer. 2004; 111:805–808.
crossref
6. Ji YB, Tae K, Lee YS, Lee SH, Kim KR, Park CW, et al. XPD Polymorphisms and Risk of Squamous Cell Carcinoma of the Head and Neck in a Korean Sample. Clin Exp Otorhinolaryngol. 2010; 3:42–47.
crossref
7. Yang M, Kim WH, Choi Y, Lee SH, Kim KR, Lee HS, et al. Effects of ERCC1 expression in peripheral blood on the risk of head and neck cancer. Eur J Cancer Prev. 2006; 15:269–273.
crossref
8. Allen-Brady K, Camp NJ. Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes. BMC Cancer. 2005; 5:99.
crossref
9. Board P, Coggan M, Johnston P, Ross V, Suzuki T, Webb G. Genetic heterogeneity of the human glutathione transferases: a complex of gene families. Pharmacol Ther. 1990; 48:357–369.
10. Nebert DW. Role of genetics and drug metabolism in human cancer risk. Mutat Res. 1991; 247:267–281.
crossref
11. Shin CS, Ahn KS, Tae K, Lee HS, Kim HJ, Kong G. Genetic susceptibilities of cytochrome P4501A1 and glutathione S-transferase M1 to the risk for Korean head and neck squamous cell carcinoma patients. Korean J Otolaryngol-Head Neck Surg. 1999; 42:202–208.
12. Ko KM, Ahn KS, Tae K, Lee SH, Kong G. Genetic Polymorphism of Cytochrome P4501A1 Exon 7 and Glutathione S-Transferase M1 in the Head and Neck Squamous Cell Carcinoma Patients. Korean J Otolaryngol-Head Neck Surg. 1999; 42:1405–1412.
13. Alexandrie AK, Sundberg MI, Seidegard J, Tornling G, Rannug A. Genetic susceptibility to lung cancer with special emphasis on CYP1A1 and GSTM1: a study on host factors in relation to age at onset, gender and histological cancer types. Carcinogenesis. 1994; 15:1785–1790.
crossref
14. Hirvonen A, Husgafvel-Pursiainen K, Karjalainen A, Anttila S, Vainio H. Point-mutational MspI and Ile-Val polymorphisms closely linked in the CYP1A1 gene: lack of association with susceptibility to lung cancer in a Finnish study population. Cancer Epidemiol Biomarkers Prev. 1992; 1:485–489.
15. Ketterer B. Protective role of glutathione and glutathione transferases in mutagenesis and carcinogenesis. Mutat Res. 1988; 202:343–361.
crossref
16. Mannervik B, Awasthi YC, Board PG, Hayes JD, Di Ilio C, Ketterer B, et al. Nomenclature for human glutathione transferases. Biochem J. 1992; 282(Pt 1):305–306.
crossref
17. Boffetta P, Hashibe M, La Vecchia C, Zatonski W, Rehm J. The burden of cancer attributable to alcohol drinking. Int J Cancer. 2006; 119:884–887.
crossref
18. Pöschl G, Seitz HK. Alcohol and cancer. Alcohol Alcohol. 2004; 39:155–165.
crossref
19. Seitz HK, Stickel F. Molecular mechanisms of alcohol-mediated carcinogenesis. Nat Rev Cancer. 2007; 7:599–612.
crossref
20. Baan R, Straif K, Grosse Y, Secretan B, El Ghissassi F, Bouvard V, et al. Carcinogenicity of alcoholic beverages. Lancet Oncol. 2007; 8:292–293.
crossref
21. IARC Working Group on the Evaluation of Carcinogenic Risks to Humans. Alcohol consumption and ethyl cabamate. IARC Monogr Eval Carcinog Risks Hum. 2010; 96:3–1383.
22. Lieber CS, Garro A, Leo MA, Mak KM, Worner T. Alcohol and cancer. Hepatology. 1986; 6:1005–1019.
crossref
23. Obe G, Jonas R, Schmidt S. Metabolism of ethanol in vitro produces a compound which induces sister-chromatid exchanges in human peripheral lymphocytes in vitro: acetaldehyde not ethanol is mutagenic. Mutat Res. 1986; 174:47–51.
crossref
24. Fang JL, Vaca CE. Detection of DNA adducts of acetaldehyde in peripheral white blood cells of alcohol abusers. Carcinogenesis. 1997; 18:627–632.
crossref
25. Homann N, Jousimies-Somer H, Jokelainen K, Heine R, Salaspuro M. High acetaldehyde levels in saliva after ethanol consumption: methodological aspects and pathogenetic implications. Carcinogenesis. 1997; 18:1739–1743.
crossref
26. Salway JG. Metabolism at a Glance. 3th ed. London: Wiley-Blackwell;1994. p. 86–87.
27. Bosron WF, Li TK, Vallee BL. New molecular forms of human liver alcohol dehydrogenase: isolation and characterization of ADHIndianapolis. Proc Natl Acad Sci U S A. 1980; 77:5784–5788.
crossref
28. Edenberg HJ. The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants. Alcohol Res Health. 2007; 30:5–13.
29. Ji YB, Tae K, Ahn TH, Lee SH, Kim KR, Park CW, et al. ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population. Oral Oncol. 2011; 47:583–587.
crossref
30. Harada S, Misawa S, Agarwal DP, Goedde HW. Liver alcohol dehydrogenase and aldehyde dehydrogenase in the Japanese: isozyme variation and its possible role in alcohol intoxication. Am J Hum Genet. 1980; 32:8–15.
31. Higuchi S, Matsushita S, Imazeki H, Kinoshita T, Takagi S, Kono H. Aldehyde dehydrogenase genotypes in Japanese alcoholics. Lancet. 1994; 343:741–742.
crossref
32. Mellon I, Bohr VA, Smith CA, Hanawalt PC. Preferential DNA repair of an active gene in human cells. Proc Natl Acad Sci U S A. 1986; 83:8878–8882.
crossref
33. Lowe SW, Schmitt EM, Smith SW, Osborne BA, Jacks T. p53 is required for radiation-induced apoptosis in mouse thymocytes. Nature. 1993; 362:847–849.
crossref
34. Wood RD. Nucleotide excision repair in mammalian cells. J Biol Chem. 1997; 272:23465–23468.
crossref
35. Seeberg E, Eide L, Bjoras M. The base excision repair pathway. Trends Biochem Sci. 1995; 20:391–397.
crossref
36. Pfeiffer P, Goedecke W, Obe G. Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations. Mutagenesis. 2000; 15:289–302.
crossref
37. Friedberg EC. How nucleotide excision repair protects against cancer. Nat Rev Cancer. 2001; 1:22–33.
crossref
38. Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM. Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat Genet. 1998; 20:184–188.
crossref
39. Lunn RM, Helzlsouer KJ, Parshad R, Umbach DM, Harris EL, Sanford KK, et al. XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis. 2000; 21:551–555.
crossref
40. Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, et al. Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res. 2001; 61:1354–1357.
41. Sturgis EM, Dahlstrom KR, Spitz MR, Wei Q. DNA repair gene ERCC1 and ERCC2/XPD polymorphisms and risk of squamous cell carcinoma of the head and neck. Arch Otolaryngol Head Neck Surg. 2002; 128:1084–1088.
crossref
42. Khan SG, Metter EJ, Tarone RE, Bohr VA, Grossman L, Hedayati M, et al. A new xeroderma pigmentosum group C poly (AT) insertion/deletion polymorphism. Carcinogenesis. 2000; 21:1821–1825.
crossref
43. Yang M, Kang MJ, Choi Y, Kim CS, Lee SM, Park CW, et al. Associations between XPC expression, genotype, and the risk of head and neck cancer. Environ Mol Mutagen. 2005; 45:374–379.
crossref
44. Thompson LH, Brookman KW, Jones NJ, Allen SA, Carrano AV. Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange. Mol Cell Biol. 1990; 10:6160–6171.
crossref
45. Levy N, Martz A, Bresson A, Spenlehauer C, de Murcia G, Menissier-de Murcia J. XRCC1 is phosphorylated by DNA-dependent protein kinase in response to DNA damage. Nucleic Acids Res. 2006; 34:32–41.
crossref
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