ERCC2/XPD gene polymorphisms and cancer risk

Mutagenesis

Volumn 17, Issue 6, 2002, Pages 463-469

  Benhamou, S ^a   Sarasin, A ^b  

^a UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^b UPR 2169 CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; ASPARAGINE; ASPARTIC ACID; CYTOSINE; DNA; GLYCINE; GUANINE; LYSINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ERCC2; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; ERCC2 PROTEIN, HUMAN; HELICASE; PROTEIN; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

APOPTOSIS; ARTICLE; BASAL CELL CARCINOMA; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CELL CYCLE; CIGARETTE SMOKING; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DNA ADDUCT; DNA REPAIR; ENVIRONMENTAL EXPOSURE; EXCISION REPAIR; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HEAD AND NECK CARCINOMA; HUMAN; HYPOTHESIS; LUNG CANCER; LUNG NON SMALL CELL CANCER; MEDICAL RESEARCH; MELANOMA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN CARCINOMA; SQUAMOUS CELL CARCINOMA; TRANSCRIPTION INITIATION; XERODERMA PIGMENTOSUM; BIOLOGICAL MODEL; GENETICS; MUTATION; NEOPLASM; REVIEW; RISK FACTOR; SKIN TUMOR; SMOKING;

DNA HELICASES; DNA REPAIR; DNA-BINDING PROTEINS; HUMANS; MODELS, GENETIC; MUTATION; NEOPLASMS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RISK FACTORS; SKIN NEOPLASMS; SMOKING; TRANSCRIPTION FACTORS; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 0036857704     PISSN: 02678357     EISSN: None     Source Type: Journal    
DOI: 10.1093/mutage/17.6.463     Document Type: Article

References (36)

1. Benhamou, S. and Sarasin, A. (2000) Variability in nucleotide excision repair and cancer risk: a review. Mutat. Res., 462, 149-158.
2. Bootsma, D., Weeda, G., Vermeulen, W., van Vuuren, H., Troelstra, C., van der Spek, P. and Hoeijmakers, J. (1995) Nucleotide excision repair syndromes: molecular basis and clinical symptoms. Phil. Trans. R. Soc. Lond. B Biol. Sci., 347, 75-81.
3. Broughton, B.C., Berneburg, M., Fawcett, H. et al. (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum. Mol. Genet., 10, 2539-2547.
4. Butkiewicz, D., Rusin, M., Enewold, L., Shields, P.G., Chorazy, M. and Harris, C.C. (2001) Genetic polymorphisms in DNA repair genes and risk of lung cancer. Carcinogenesis, 22, 593-597.
5. Cleaver, J.E. (1968) Defective repair replication of DNA in xeroderma pigmentosum. Nature, 218, 652-656.
6. Coin, F., Marinoni, J.C., Rodolfo, C., Fribourg, S., Pedrini, A.M. and Egly, J.M. (1998) Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nature Genet., 20, 184-188.
7. Coin, F., Bergmann, E., Tremeau-Bravard, A. and Egly, J.M. (1999) Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. EMBO J., 18, 1357-1366.
8. David-Beabes, G.L., Lunn, R.M. and London, S.J. (2001) No association between the XPD (Lys751Gln) polymorphism or the XRCC3 (Thr241Met) polymorphism and lung cancer risk. Cancer Epidemiol. Biomarkers Prev., 10, 911-912.
9. de Boer, J. and Hoeijmakers, J.H. (2000) Nucleotide excision repair and human syndromes. Carcinogenesis, 21, 453-460.
10. Dybdahl, M., Vogel, U., Frentz, G., Wallin, H. and Nexo, B.A. (1999). Polymorphisms in the DNA repair gene XPD: correlations with risk and age at onset of basal cell carcinoma. Cancer Epidemiol. Biomarkers Prev., 8, 77-81.
11. Egly, J. (2001) TFIIH: from transcription to clinic. FEBS Lett., 498, 124-128.
12. Friedberg, E.C., Feaver, W.J. and Gerlach, V.L. (2000) The many faces of DNA polymerases: strategies for mutagenesis and for mutational avoidance. Proc. Natl Acad. Sci. USA, 97, 5681-5683.
13. Hanawalt, P.C. (1994) Transcription-coupled repair and human disease. Science, 266, 1957-1958.
14. Hoeijmakers, J.H. (2001) Genome maintenance mechanisms for preventing cancer. Nature, 411, 366-374.
15. Hou, S.M., Falt, S., Angelini, S., Yang, K., Nyberg, F., Lambert, B. and Hemminki, K. (2002) The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk. Carcinogenesis, 23, 599-603.
16. Itin, P.H., Sarasin, A. and Pittelkow, M.R. (2001) Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J. Am. Acad. Dermatol., 44, 891-920.
17. Keriel, A., Stary, A., Sarasin, A., Rochette-Egly, C. and Egly, J.M. (2002) XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha. Cell, 109, 125-135.
18. Kraemer, K.H., Levy, D.D., Parris, C.N., Gozukara, E.M., Moriwaki, S., Adelberg, S. and Seidman, M.M. (1994) Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer. J. Invest. Dermatol., 103, S96-S101.
19. Lunn, R.M., Helzlsouer, K.J., Parshad, R., Umbach, D.M., Harris, E.L., Sanford, K.K. and Bell, D.A. (2000) XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis, 21, 551-555.
20. Moller, P., Wallin, H., Dybdahl, M., Frentz, G. and Nexo, B.A. (2000) Psoriasis patients with basal cell carcinoma have more repair-mediated DNA strand-breaks after UVC damage in lymphocytes than psoriasis patients without basal cell carcinoma. Cancer Lett., 151, 187-192.
21. Park, J.Y., Lee, S.Y, Jeon, H.S. et al. (2002) Lys751Gln polymorphism in the DNA repair gene XPD and risk of primary lung cancer. Lung Cancer, 36, 15-16.
22. Qiao, Y, Spitz, M.R., Shen, H., Guo, Z., Shete, S., Hedayati, M., Grossman, L., Mohrenweiser, H. and Wei, Q. (2002) Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ ERCC2 genotypes. Carcinogenesis, 23, 295-299.
23. Queille, S., Drougard, C., Sarasin, A. and Daya-Grosjean, L. (2001) Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. J. Invest. Dermatol., 117, 1162-1170.
24. Sarasin, A. and Stary, A. (1997) Human cancer and DNA repair-deficient diseases. Cancer Detect. Prev., 21, 406-411.
25. Schaeffer, L., Roy, R., Humbert, S., Moncollin, V., Vermeulen, W., Hoeijmakers, J.H., Chambon, P. and Egly, J.M. (1993) DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science, 260, 58-63.
26. Schaeffer, L., Moncollin, V., Roy, R., Staub, A., Mezzina, M., Sarasin, A., Weeda, G., Hoeijmakers, J.H. and Egly, J.M. (1994) The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. EMBO J., 13, 2388-2392.
27. Shen, M.R., Jones, I.M. and Mohrenweiser, H. (1998) Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res., 58, 604-608.
28. Spitz, M.R., Wu, X., Wang, Y., Wang, L.E., Shete, S., Amos, C.I., Guo, Z., Lei, L., Mohrenweiser, H. and Wei, Q. (2001) Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res., 61, 1354-1357.
29. Stary, A. and Sarasin, A. (1996) The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes. Cancer Surv., 26, 155-171.
30. Stary, A. and Sarasin, A. (2002) The genetics of the hereditary xeroderma pigmentosum syndrome. Biochimie, 84, 49-60.
31. Sturgis, E.M., Zheng, R., Li, L., Castillo, E.J., Eicher, S.A., Chen, M., Strom, S.S., Spitz, M.R. and Wei, Q. (2000) XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. Carcinogenesis, 21, 2219-2223.
32. Tomescu, D., Kavanagh, G., Ha, T., Campbell, H. and Melton, D.W. (2001) Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma. Carcinogenesis, 22, 403-408.
33. Vogel, U., Hedayati, M., Dybdahl, M., Grossman, L. and Nexo, B.A. (2001) Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited. Carcinogenesis, 22, 899-904.
34. Winsey, S.L., Haldar, N.A., Marsh, H.P., Bunce, M., Marshall, S.E., Harris, A.L., Wojnarowska, F. and Welsh, K.I. (2000) A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res., 60, 5612-5616.
35. Wood, R.D. (1999) DNA damage recognition during nucleotide excision repair in mammalian cells. Biochimie, 81, 39-44.
36. Zhou, W., Liu, G., Miller, D.P., Thurston, S.W., Xu, L.L., Wain, J.C., Lynch, T.J., Su, L. and Christiani, D.C. (2002) Gene-environment interaction for the ERCC2 polymorphisms and cumulative cigarette smoking exposure in lung cancer. Cancer Res., 62, 1377-1381.