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Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case–control studies

  • Epidemiology
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Abstract

The xeroderma pigmentosum group G (XPG or ERCC5) and group F (XPF or ERCC4) play an important role in DNA repair, and produce dual incision 3′ and 5′ to the damaged nucleotide fragment. Several polymorphisms in the XPF and XPG gene have been described, including the commonly occurring Asp1104His in XPG and Arg415Gln in XPF. The published data on the association between these polymorphisms and breast cancer remained controversial. This meta-analysis of literatures was performed to derive a more precise estimation of the relationship. A total of 17 studies were identified to the meta-analysis, including 5,235 cases and 5,685 controls for XPG Asp1104His (from ten studies) and 3,910 cases and 3,985 controls for XPF Arg415Gln (from seven studies). Overall, no significantly elevated breast cancer risk was found in all genetic models when all studies were pooled into the meta-analysis (for XPG Asp1104His Asp/His vs. Asp/Asp: OR 1.02, 95% CI 0.94–1.11; His/His vs. Asp/Asp: OR 0.96, 95% CI 0.83–1.11; dominant model: OR 1.01, 95% CI 0.94–1.09; and for XPF Arg415Gln Arg/Gln vs. Arg/Arg: OR 1.00, 95% CI 0.89–1.12; Gln/Gln vs. Arg/Arg: OR 2.40, 95% CI 0.62–9.22; dominant model: OR 1.03, 95% CI 0.90–1.18). In stratified analyses, we observed an overall OR of 5.20 (95% CI 2.08–12.95) for breast cancer developing risk in the Caucasian ethnicity, comparing Gln/Gln type to wild-type Arg/Arg for Arg415Gln polymorphism. In conclusion, this meta-analysis suggests that XPG Asp1104His polymorphism is not associated with increased breast cancer risk, and XPF Arg415Gln may be a low-penetrant risk factor in the Caucasian ethnicity for developing breast cancer.

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References

  1. Ramos JM, Ruiz A, Colen R, Lopez ID, Grossman L, Matta JL (2004) DNA repair and breast carcinoma susceptibility in women. Cancer 100:1352–1357

    Article  PubMed  CAS  Google Scholar 

  2. Wood RD, Mitchell M, Sgouros J, Lindahl T (2001) Human DNA repair genes. Science 291:1284–1289

    Article  PubMed  CAS  Google Scholar 

  3. Goode EL, Ulrich CM, Potter JD (2006) Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 11:1513–1530

    Google Scholar 

  4. Sancar A, Lindsey-Boltz LA, Unsal-Kacmaz K, Linn S (2004) Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. Ann Rev Biochem 73:39–85

    Article  PubMed  CAS  Google Scholar 

  5. Naccarati A, Pardini B, Hemminki K, Vodicka P (2007) Sporadic colorectal cancer and individual susceptibility: a review of the association studies investigating the role of DNA repair genetic polymorphisms. Mutat Res 635:118–145

    Article  PubMed  CAS  Google Scholar 

  6. Tse D, Zhai R, Zhou W, Heist RS, Asomaning K, Su L, Lynch TJ, Wain JC, Christiani DC, Liu G (2008) Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk. Cancer Causes Control 19:1077–1083

    Article  PubMed  Google Scholar 

  7. Araujo SJ, Nigg EA, Wood RD (2001) Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosome. Mol Cell Biol 21:2281–2291

    Article  PubMed  CAS  Google Scholar 

  8. Smith TR, Levine EA, Perrier ND, Miller MS, Freimanis RI, Lohman K, Case LD, Xu J, Mohrenweiser HW, Hu JJ (2003) DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev 12:1200–1204

    PubMed  CAS  Google Scholar 

  9. Kumar R, Höglund L, Zhao C, Försti A, Snellman E, Hemminki K (2003) Single nucleotide polymorphisms in the XPG gene: determination of role in DNA repair and breast cancer risk. Int J Cancer 103:671–675

    Article  PubMed  CAS  Google Scholar 

  10. Mechanic LE, Millikan RC, Player J, de Cotret AR, Winkel S, Worley K, Heard K, Heard K, Tse CK, Keku T (2006) 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

    Article  PubMed  CAS  Google Scholar 

  11. Shen J, Gammon MD, Terry MB, Wang L, Wang Q, Zhang F, Teitelbaum SL, Eng SM, Sagiv SK, Gaudet MM, Neugut AI, Santella RM (2005) Polymorphisms in XRCC1 modify the association between polycyclic aromatic hydrocarbon-DNA adducts, cigarette smoking, dietary antioxidants, and breast cancer risk. Cancer Epidemiol Biomarkers Prev 14:336–342

    Article  PubMed  CAS  Google Scholar 

  12. Crew KD, Gammon MD, Terry MB, Zhang FF, Zablotska LB, Agrawal M, Shen J, Long CM, Eng SM, Sagiv SK, Teitelbaum SL, Neugut AI, Santella RM (2007) Polymorphisms in nucleotide excision repair genes, polycyclic aromatic hydrocarbon-DNA adducts, and breast cancer risk. Cancer Epidemiol Biomarkers Prev 16:2033–2041

    Article  PubMed  CAS  Google Scholar 

  13. Jorgensen TJ, Visvanathan K, Ruczinski I, Thuita L, Hoffman S, Helzlsouer KJ (2007) 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

    Article  PubMed  CAS  Google Scholar 

  14. Smith TR, Levine EA, Freimanis RI, Akman SA, Allen GO, Hoang KN, Liu-Mares W, Hu JJ (2008) Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis 29:2132–2138

    Article  PubMed  CAS  Google Scholar 

  15. Rajaraman P, Bhatti P, Doody MM, Simon SL, Weinstock RM, Linet MS, Rosenstein M, Stovall M, Alexander BH, Preston DL, Sigurdson AJ (2008) Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists. Int J Cancer 123:2713–2716

    Article  PubMed  CAS  Google Scholar 

  16. Ming-Shiean H, Yu JC, Wang HW, Chen ST, Hsiung CN, Ding SL, Wu PE, Shen CY, Cheng CW (2010) Synergistic effects of polymorphisms in DNA repair genes and endogenous estrogen exposure on female breast cancer risk. Ann Surg Oncol 17:760–771

    Article  PubMed  Google Scholar 

  17. Lee SA, Lee KM, Park WY, Kim B, Nam J, Yoo KY, Noh DY, Ahn SH, Hirvonen A, Kang D (2005) Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer. Exp Mol Med 37:86–90

    PubMed  CAS  Google Scholar 

  18. Jorgensen TJ, Helzlsouer KJ, Clipp SC, Bolton JH, Crum RM, Visvanathan K (2009) DNA repair gene variants associated with benign breast disease in high cancer risk women. Cancer Epidemiol Biomarkers Prev 18:346–350

    Article  PubMed  CAS  Google Scholar 

  19. Milne RL, Ribas G, González-Neira A, Fagerholm R, Salas A, González E, Dopazo J, Nevanlinna H, Robledo M, Benítez J (2006) ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping. Cancer Res 66:9420–9427

    Article  PubMed  CAS  Google Scholar 

  20. Shen MR, Jones IM, Mohrenweiser H (1998) Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 58:604–608

    PubMed  CAS  Google Scholar 

  21. Stephens JC, Schneider JA, Tanguay DA, Choi J, Acharya T, Stanley SE, Jiang R, Messer CJ, Chew A, Han JH, Duan J, Carr JL, Lee MS, Koshy B, Kumar AM, Zhang G, Newell WR, Windemuth A, Xu C, Kalbfleisch TS, Shaner SL, Arnold K, Schulz V, Drysdale CM, Nandabalan K, Judson RS, Ruano G, Vovis GF (2001) Haplotype variation and linkage disequilibrium in 313 human genes. Science 293:489–493

    Article  PubMed  CAS  Google Scholar 

  22. Juson R, Stenphen JC, Windemuth A (2000) The predictive power of haplotypes in clinical response. Pharmacogenomics 1:15–16

    Article  Google Scholar 

  23. Fallin D, Cohen A, Essioux L, Chumakov I, Blumenfeld M, Cohen D, Schork NJ (2001) Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer’s disease. Genome Res 11:143–151

    Article  PubMed  CAS  Google Scholar 

  24. DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Control Clin Trials 7:177–188

    Article  PubMed  CAS  Google Scholar 

  25. Mantel N, Haenszel W (1959) Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22:719–748

    PubMed  CAS  Google Scholar 

  26. Egger M, Davey Smith G, Schneider M, Minder C (1997) Bias in meta-analysis detected by a simple, graphical test. BMJ 315:629–634

    PubMed  CAS  Google Scholar 

  27. Hirschhorn JN, Lohmueller K, Byrne E (2002) A comprehensive review of genetic association studies. Genet Med 4:45–61

    Article  PubMed  CAS  Google Scholar 

  28. Wacholder S, Chanock S, Garcia-Closas M, El Ghormli L, Rothman N (2004) Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst 96:434–442

    Article  PubMed  Google Scholar 

  29. Duell EJ, Wiencke JK, Cheng TJ, Varkonyi A, Zuo ZF, Ashok TD, Mark EJ, Wain JC, Christiani DC, Kelsey KT (2000) Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells. Carcinogenesis 21:965–971

    Article  PubMed  CAS  Google Scholar 

  30. Qiu L, Wang Z, Shi X, Wang Z (2008) Associations between XPC polymorphisms and risk of cancers: A meta-analysis. Eur J Cancer 44:2241–2253

    Article  PubMed  CAS  Google Scholar 

  31. Benhamou S, Sarasin A (2005) ERCC2/XPD gene polymorphisms and lung cancer: a HuGE review. Am J Epidemiol 161:1–14

    Article  PubMed  Google Scholar 

  32. Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, Guo Z, Lei L, Mohrenweiser H, Wei Q (2001) Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res 61:1354–1357

    PubMed  CAS  Google Scholar 

  33. Shen H, Spitz MR, Qiao Y, Guo Z, Wang LE, Bosken CH, Amos CI, Wei Q (2003) Smoking, DNA repair capacity and risk of nonsmall cell lung cancer. Int J Cancer 107:84–88

    Article  PubMed  CAS  Google Scholar 

  34. Cheng KK, Duffy SW, Day NE, Lam TH (1995) Oesophageal cancer in never-smokers and never-drinkers. Int J Cancer 60:820–822

    Article  PubMed  CAS  Google Scholar 

  35. Garidou A, Tzonou A, Lipworth L, Signorello LB, Kalapothaki V, Trichopoulos D (1996) Life-style factors and medical conditions in relation to esophageal cancer by histologic type in a low-risk population. Int J Cancer 68:295–299

    Article  PubMed  CAS  Google Scholar 

  36. Launoy G, Milan CH, Faivre J, Pienkowski P, Milan CI, Gignoux M (1997) Alcohol, tobacco and oesophageal cancer: effects of the duration of consumption, mean intake and current and former consumption. Br J Cancer 75:1389–1396

    Article  PubMed  CAS  Google Scholar 

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Ding, DP., He, XF. & Zhang, Y. Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case–control studies. Breast Cancer Res Treat 129, 203–209 (2011). https://doi.org/10.1007/s10549-011-1447-9

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  • DOI: https://doi.org/10.1007/s10549-011-1447-9

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