Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiwanese patients

Chinese Journal of Physiology

Volumn 53, Issue 2, 2010, Pages 130-135

  Wang, Hwei Chung ^a   Liu, Chiu Shong ^a   Wang, Chung Hsing ^a   Tsai, Ru Yin ^a   Tsai, Chia Wen ^a,b   Wang, Rou Fen ^a   Chang, Chao Hsiang ^a   Chen, Yueh Sheng ^b   Chiu, Chang Fang ^a   Bau, Da Tian ^a,b   Huang, Chih Yang ^b,c  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

Author keywords

Asp312Asn; Breast cancer Taiwanese; Polymorphism; XPD

Indexed keywords

XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CANCER RISK; CASE CONTROL STUDY; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PROMOTER REGION; RISK ASSESSMENT; RISK FACTOR; TAIWAN;

EID: 77954866347     PISSN: 03044920     EISSN: 26660059     Source Type: Journal    
DOI: 10.4077/CJP.2010.AMK005     Document Type: Article

References (53)

1. Bau, D.T., Fu, Y.P., Chen, S.T., Cheng, T.C., Yu, J.C., Wu, P.E. and Shen C.Y. Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1. Cancer Res. 64: 5013-5019, 2004.
2. Bau, D.T., Mau, Y.C., Ding, S.L., Wu, P.E. and Shen, C.Y. DNA double-strand-break repair capacity and risk of breast cancer. Carcinogenesis 28: 1726-1730, 2007.
3. Bau, D.T., Tsai, M.H., Huang, C.Y., Lee, C.C., Tseng, H.C., Lo, Y.L., Tsai, Y. and Tsai, F.J. Relationship between polymorphisms of nucleotide excision repair genes and oral cancer risk in Taiwan: evidence for modification of smoking habit. Chinese J Physiol. 50: 294-300, 2007.
4. Bau, D.T., Tsai, M.H., Lo, Y.L., Hsu, C.M., Tsai, Y., Lee, C.C. and Tsai, F.J. Association of p53 and p21 (CDKN1A/WAF1/CIP1) polymorphisms with oral cancer in Taiwan patients. Anticancer Res. 27: 1559-1564, 2007.
5. Bau, D.T., Tseng, H.C., Wang, C.H., Chiu, C.F., Hua, C.H., Wu, C.N., Liang, S.Y., Wang, C.L., Tsai, C.W. and Tsai, M.H. Oral cancer and genetic polymorphism of DNA double strand break gene Ku70 in Taiwan. Oral Oncol. 44: 1047-1051, 2008.
6. Bau, D.T., Wu, H.C., Chiu, C.F., Lin, C.C., Hsu, C.M., Wang, C.L., Wang, R.F. and Tsai, F.J. Association ofXPD polymorphisms with prostate cancer in Taiwanese patients. Anticancer Res. 27: 2893-2896, 2007.
7. Bernard-Gallon, D., Bosviel, R., Delort, L., Fontana, L., Chamoux, A., Rabiau, N., Kwiatkowski, F., Chalabi, N., Satih, S. and Bignon, Y.J. DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk. Mol. Cancer 7: 36, 2008.
8. Chiu, C.F., Tsai, M.H., Tseng, H.C., Wang, C.L., Tsai, F.J., Lin, C.C. and Bau, D.T. A novel single nucleotide polymorphism in ERCC6 gene is associated with oral cancer susceptibility in Taiwanese patients. Oral Oncol. 44: 582-586, 2008.
9. Chiu, C.F., Tsai, M.H., Tseng, H.C., Wang, C.L., Wang, C.H., Wu, C.N., Lin, C.C. and Bau, D.T. A novel single nucleotide polymor-phism in XRCC4 gene is associated with oral cancer susceptibility in Taiwanese patients. Oral Oncol. 44: 898-902, 2008.
10. Chiu, C.F., Wang, C.H., Wang, C.L., Lin, C.C., Hsu, N.Y., Weng, J.R. and Bau, D.T. A novel single nucleotide polymorphism in XRCC4 gene is associated with gastric cancer susceptibility in Taiwan. Ann. Surg. Oncol. 15: 514-518, 2008.
11. Chiu, C.F., Wang, H.C., Wang, C.H., Wang, C.L., Lin, C.C., Shen, C.Y., Chiang, S.Y. and Bau, D.T. A new single nucleotide polymorphism in XRCC4 gene is associated with breast cancer susceptibility in Taiwanese patients. Anticancer Res. 28: 267-270, 2008.
12. Crew, K.D., Gammon, M.D., Terry, M.B., Zhang, F.F., Zablotska, L.B., Agrawal, M., Shen, J., Long, C.M., Eng, S.M., Sagiv, S.K., Teitelbaum, S.L., Neugut, A.I. and Santella, R.M. Polymorphisms in nucleotide excision repair genes, polycyclic aromatic hydrocar-bon-DNA adducts, and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 16: 2033-2041, 2007.
13. Debniak, T., Scott, R.J., Huzarski, T., Byrski, T., Masojc, B., van de Wetering, T., Serrano-Fernandez, P., Gorski, B., Cybulski, C., Gronwald, J., Debniak, B., Maleszka, R., Kladny, J., Bieniek, A., Nagay, L., Haus, O., Grzybowska, E., Wandzel, P., Niepsuj, S., Narod, S.A. and Lubinski, J. XPD common variants and their association with melanoma and breast cancer risk. Breast Cancer Res. Treat. 98: 209-215, 2006.
14. Denissenko, M.F., Pao, A., Pfeifer, G.P. and Tang, M. Slow repair of bulky DNA adducts along the nontranscribed strand of the human p53 gene may explain the strand bias of transversion mutations in cancers. Oncogene 16: 1241-1247, 1998.
15. Dufloth, R.M. The investigation of DNA repair polymorphisms with histo-pathological characteristics and hormone receptors in a group of Brazilian women with breast cancer. Genet. Mol. Res. 7: 574-582, 2008.
16. Fleck, O. and Nielsen, O. DNA repair. J. Cell. Sci. 117: 515-517, 2004.
17. Goode, E.L., Ulrich, C.M. and Potter, J.D. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol. Biomarkers Prev. 11: 1513-1530, 2002.
18. Hoeijmakers, J.H. Genome maintenance mechanisms for preventing cancer. Nature 411: 366 374, 2001.
19. Hsieh, Y.Y. X-ray repair cross-complementing group 4 (XRCC4) promoter -1394T-related genotype, but not XRCC4 codon 247/ intron 3 or xeroderma pigmentosum group D codon 312, 751/ promoter -114, polymorphisms are correlated with higher susceptibility to myoma. Fertil. Steril. 90: 1417-1423, 2008.
20. Hung, R.J., Hall, J., Brennan, P. and Boffetta, P. Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am. J. Epidemiol. 162: 925-942, 2005.
21. Jemal, A., Tiwari, R.C., Murray, T., Ghafoor, A., Samuels, A., Ward, E., Feuer, E.J. and Thun, M.J. Cancer statistics, 2004. CA Cancer J. Clin. 54: 8-29, 2004.
22. Jorgensen, T.J., Visvanathan, K., Ruczinski, I., Thuita, L., Hoffman, S. and Helzlsouer, K.J. Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland. Breast Cancer Res. Treat. 101: 65-71, 2007.
23. Justenhoven, C., Hamann, U., Pesch, B., Harth, V., Rabstein, S., Baisch, C., Vollmert, C., Illig, T., Ko, Y.D., Bruning, T. and Brauch, H. ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. Cancer Epidemiol. Biomarkers Prev. 13: 2059-2064, 2004.
24. Kang, D. Genetic polymorphisms and cancer susceptibility of breast cancer in Korean women. J. Biochem. Mol. Biol. 36: 28-34, 2003.
25. Kipikasova, L., Wolaschka, T., Bohus, P., Baumohlova, H., Bober, J., Blazejova J., Mirossay, L., Sarissky, M., Mirossay, A., Cizmarikova, M., Potocekova, D. and Mojzis, J. Polymorphisms of the XRCC1 and XPD genes and breast cancer risk: a case-control study. Pathol. Oncol. Res. 14: 131-135, 2008.
26. Kuschel, B., Chenevix-Trench, G., Spurdle, A.B., Chen, X., Hopper, J.L., Giles, G.G., McCredie, M., Chang-Claude, J., Gregory, C.S., Day, N.E., Easton, D.F., Ponder, B.A., Dunning, A.M. and Pharoah, P.D. Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. Cancer Epidemiol. Biomarkers Prev. 14: 1828-1831, 2005.
27. Lee, S.A., Lee, K.M., Park, W.Y., Kim, B., Nam, J., Yoo, K.Y., Noh, D.Y., Ahn, S.H., Hirvonen, A. and Kang, D. Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer. Exp. Mol. Med. 37: 86-90, 2005.
28. Lunn, R.M., Helzlsouer, K.J., Parshad, R., Umbach, D.M., Harris, L., Sanford, K.K. and Bell, D.A. XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis 21: 551-555, 2000.
29. Manuguerra, M., Saletta, F., Karagas, M.R., Berwick, M., Veglia, Vineis, P. and Matullo, G. XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. Am. J. Epidemiol. 164: 297-302, 2006.
30. Mechanic, L.E., Millikan, R.C., Player, J., de Cotret, A.R., Winkel, S., Worley, K., Heard, K., Heard, K., Tse, C.K. and Keku, T. Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites: a population-based case-control study. Carcinogenesis 27: 1377-1385, 2006.
31. Milne, R.L. and Benitez, J. Current strategies in the search for low penetrance genes in cancer. Histol. Histopathol. 23: 507-514, 2008.
32. Perlow, R.A., Kolbanovskii, A., Hingerty, B.E., Geacintov, N.E., Broyde, S. and Scicchitano, D.A. DNA adducts from a tumorigenic metabolite of benzo[a]pyrene block human RNA polymerase II elongation in a sequence- and stereochemistry-dependent manner. J. Mol. Biol. 321: 29-47, 2002.
33. Romanowicz-Makowska, H., Sobczuk, A., Smolarz, B., Fiks, T. and Kulig, A. XPD Lys751Gln polymorphism analysis in womenwith sporadic breast cancer. Pol. J. Pathol. 58: 245-249, 2007.
34. Rybicki, B.A., Conti, D.V., Moreira, A., Cicek, M., Casey, G. and Witte, J.S. DNA repair gene XRCC1 and XPD polymorphisms and risk of prostate cancer. Cancer Epidemiol. Biomarkers Prev. 13: 23-29, 2004.
35. Sancar, A. and Tang, M.S. Nucleotide excision repair. Photochem. Photobiol. 57: 905-921, 1993.
36. Shen, J., Desai, M., Agrawal, M., Kennedy, D.O., Senie, R.T., Santella, R.M. and Terry, M.B. Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer. Cancer Epidemiol. Biomarkers Prev. 15: 1614-1619, 2006.
37. Shen M.R., Jones, I.M. and Mohrenweiser, H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res. 58: 604-608, 1998.
38. Shi, Q., Wang, L.E., Bondy, M.L., Brewster, A., Singletary, S.E. and Wei, Q. Reduced DNA repair of benzo[a]pyrene diol epoxide-induced adducts and common XPD polymorphisms in breast cancer patients. Carcinogenesis 25: 1695-1700, 2004.
39. Shore, R.E., Zeleniuch-Jacquotte, A., Currie, D., Mohrenweiser, H., Afanasyeva, Y., Koenig, K.L., Arslan, A.A., Toniolo, P. and Wirgin, I. Polymorphisms in XPC and ERCC2 genes, smoking and breast cancer risk. Int. J. Cancer 122: 2101-2105, 2008.
40. Singh, V., Parmar, D., and Singh, M.P. Do single nucleotide polymorphisms in xenobiotic metabolizing genes determine breast cancer susceptibility and treatment outcomes? Cancer Invest. 26: 769-783, 2008.
41. Smith, T.R., Levine, E.A., Freimanis, R.I., Akman, S.A., Allen, O., Hoang, K.N., Liu-Mares, W. and Hu, J.J. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis 29: 2132-2138, 2008.
42. Stern, M.C., Johnson, L.R., Bell, D.A. and Taylor, J.A. XPD codon 751 polymorphism, metabolism genes, smoking, and bladder cancer risk. Cancer Epidemiol. Biomarkers Prev. 11: 1004-1011, 2002.
43. Sturgis, E.M., Zheng, R., Li, L., Castillo, E.J., Eicher, S.A., Chen, M., Strom, S.S., Spitz, M.R. and Wei, Q. XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. Carcinogenesis 21: 2219-2223, 2000.
44. Synowiec, E., Stefanska, J., Morawiec, Z., Blasiak, J. and Wozniak, K. Association between DNA damage, DNA repair genes variability and clinical characteristics in breast cancer patients. Mutat. Res. 648: 65-72, 2008.
45. Tang, D., Cho, S., Rundle, A., Chen, S., Phillips, D., Zhou, J., Hsu, Y., Schnabel, F., Estabrook, A. and Perera, F.P. Polymorphisms in the DNA repair enzyme XPD are associated with increased levels of PAH-DNA adducts in a case-control study of breast cancer. Breast Cancer Res. Treat. 75: 159-166, 2002.
46. Taylor, E.M., Broughton, B.C., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N.G., Fawcett, H., Harcourt, S.A., Arlett, C.F. and Lehmann, A.R. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/ transcription gene. Proc. Natl. Acad. Sci. USA 94: 8658-8663, 1997.
47. Tomescu, D., Kavanagh, G., Ha, T., Campbell, H. and Melton, D.W. Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma. Carcinogenesis 22: 403-408, 2001.
48. Wallner, B.C., Harreus, U.A., Gamarra, F., Sassen, A. and Kleinsasser, N.H. Genotoxicity studies in mini-organ cultures of human nasal mucosa. HNO 53: 1037-1046, 2005.
49. Wang, G.Y., Lu, C.Q., Zhang, R.M., Hu, X.H. and Luo, Z.W. The E-cadherin gene polymorphism 160C->A and cancer risk: A HuGE review and meta-analysis of 26 case-control studies. Am. J. Epidemiol. 167: 7-14, 2008.
50. Weeda, G. and Hoeijmakers, J.H. Genetic analysis of nucleotide excision repair in mammalian cells. Semin. Cancer Biol. 4: 105117, 1993.
51. Wolz, L., Krause, G. and Scherer, G. The comet assay with MCL-5 cells as an indicator of genotoxic treatment with chemicals and cigarette smoke condensates. Altern. Lab. Anim. 30: 331-339, 2002.
52. Xing, D., Tan, W., Wei, Q. and Lin, D. Polymorphisms of the DNA repair gene XPD and risk of lung cancer in a Chinese population. Lung Cancer 38: 123-129, 2002.
53. Zhang, L., Zhang, Z. and Yan, W. Single nucleotide polymorphisms for DNA repair genes in breast cancer patients. Clin. Chim. Acta 359: 150-155, 2005.