Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
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Association of Functional Polymorphisms of the XRCC4 Gene with the Risk of Breast Cancer: A Meta-analysis

  • Zhou, Li-Ping (Department of Laboratory Medicine, the First Affiliated Hospital of China Medical University) ;
  • Luan, Hong (Department of Laboratory Medicine, the First Affiliated Hospital of China Medical University) ;
  • Dong, Xi-Hua (Department of Laboratory Medicine, the First Affiliated Hospital of China Medical University) ;
  • Jin, Guo-Jiang (Department of Laboratory Medicine, the First Affiliated Hospital of China Medical University) ;
  • Ma, Dong-Liang (Department of Laboratory Medicine, the First Affiliated Hospital of China Medical University) ;
  • Shang, Hong (Department of Laboratory Medicine, the First Affiliated Hospital of China Medical University)
  • Published : 2012.07.31
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Abstract

Objective: X-ray cross-complementing group 4 (XRCC4) is a major repair gene for DNA double-strand breaks (DSB) in the non-homologous end-joining (NHEJ) pathway. Several potentially functional polymorphisms of the XRCC4 gene have been implicated in breast cancer risk, but individually published studies showed inconclusive results. The aim of this meta-analysis was to investigate the association between XRCC4 polymorphisms and the risk of breast cancer. Methods: The MEDLINE, EMBASE, Web of science and CBM databases were searched for all relevant articles published up to June 20, 2012. Potential associations were assessed with comparisons of the total mutation rate (TMR), complete mutation rate (CMR) and partial mutation rate (PMR) in cases and controls. Statistical analyses were performed using RevMan 5.1.6 and STATA 12.0 software. Results: Five studies were included with a total of 5,165 breast cancer cases and 4,839 healthy controls. Meta-analysis results showed that mutations of rs2075686 (C>T) and rs6869366 (G>T) in the XRCC4 gene were associated with increased risk of breast cancer, while rs2075685 (G>T) and rs10057194 (A>G) might decrease the risk of breast cancer. However, rs1805377 (A>G), rs1056503 (G>T), rs28360317 (ins>del) and rs3734091 (A>G) polymorphisms of XRCC4 gene did not appear to have an influence on breast cancer susceptibility. Conclusion: Results from the current meta-analysis suggest that the rs2075685 (G>T) and rs6869366 (G>T) polymorphisms of the XRCC4 gene might increase the risk of breast cancer, whereas rs2075685 (G>T) and rs10057194 (A>G) might be protective factors.

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References

  1. Abraham JE, Maranian MJ, Driver KE, et al (2011). CYP2D6 gene variants and their association with breast cancer susceptibility. Cancer Epidemiol Biomarkers Prev, 20, 1255-8. https://doi.org/10.1158/1055-9965.EPI-11-0321
  2. Allen-Brady K, Cannon-Albright LA, Neuhausen SL, et al (2006). A role for XRCC4 in age at diagnosis and breast cancer risk. Cancer Epidemiol Biomarkers Prev, 15, 1306-10. https://doi.org/10.1158/1055-9965.EPI-05-0959
  3. Barnes DE (2002). DNA damage: air-breaks? Curr Biol, 12, R262-4. https://doi.org/10.1016/S0960-9822(02)00788-1
  4. Bau DT, Tsai CW, Wu CN (2011). Role of the XRCC5/XRCC6 dimer in carcinogenesis and pharmacogenomics. Pharmacogenomics, 12, 515-34. https://doi.org/10.2217/pgs.10.209
  5. Chiu CF, Wang HC, Wang CH, et al (2008). A new single nucleotide polymorphism in XRCC4 gene is associated with breast cancer susceptibility in Taiwanese patients. Anticancer Res, 28, 267-70.
  6. Dixon K, Kopras E (2004). Genetic alterations and DNA repair in human carcinogenesis. Semin Cancer Biol, 14, 441-8. https://doi.org/10.1016/j.semcancer.2004.06.007
  7. Dumitrescu RG, Cotarla I (2005). Understanding breast cancer risk-where do we stand in 2005. J Cell Mol Med, 9, 208-21. https://doi.org/10.1111/j.1582-4934.2005.tb00350.x
  8. Fu YP, Yu JC, Cheng TC, et al (2003). Breast cancer risk associated with genotypic polymorphism of the non-homologous end-joining genes: a multigenic study on cancer susceptibility. Cancer Res, 63, 2440-6.
  9. Garcia-Closas M, Egan KM, Newcomb PA, et al (2006). Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses. Hum Genet, 119, 376-88. https://doi.org/10.1007/s00439-006-0135-z
  10. Goode EL, Ulrich CM, Potter JD (2002). Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev, 11, 1513-30.
  11. Han J, Haiman C, Niu T, et al (2009). Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk. Breast Cancer Res Treat, 115, 613-22. https://doi.org/10.1007/s10549-008-0089-z
  12. Higgins JP, Thompson SG (2002). Quantifying heterogeneity in a meta-analysis. Stat Med, 21, 1539-58. https://doi.org/10.1002/sim.1186
  13. Kelsey JL, Horn-Ross PL (1993). Breast cancer: magnitude of the problem and descriptive epidemiology. Epidemiol Rev, 15, 7-16.
  14. Laurance J (2006). Breast cancer cases rise 80% since Seventies. The Independent.
  15. Lee KM, Choi JY, Kang C, et al (2005). Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk. Clin Cancer Res, 11, 4620-6. https://doi.org/10.1158/1078-0432.CCR-04-2534
  16. Li Z, Otevrel T, Gao Y, et al (1995). The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell, 83, 1079-89. https://doi.org/10.1016/0092-8674(95)90135-3
  17. Mari PO, Florea BI, Persengiev SP, et al (2006). Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4. Proc Natl Acad Sci USA, 103, 18597-602. https://doi.org/10.1073/pnas.0609061103
  18. Peters JL, Sutton AJ, Jones DR, et al (2006). Comparison of two methods to detect publication bias in meta-analysis. JAMA, 295, 676-80. https://doi.org/10.1001/jama.295.6.676
  19. Pfeiffer P, Goedecke W, Kuhfittig-Kulle S, et al (2004). Pathways of DNA double-strand break repair and their impact on the prevention and formation of chromosomal aberrations. Cytogenet Genome Res, 104, 7-13. https://doi.org/10.1159/000077460
  20. Qiao Y, Spitz MR, Guo Z, et al (2002). Rapid assessment of repair of ultraviolet DNA damage with a modified host-cell reactivation assay using a luciferase reporter gene and correlation with polymorphisms of DNA repair genes in normal human lymphocytes. Mutat Res, 509, 165-74. https://doi.org/10.1016/S0027-5107(02)00219-1
  21. Sariego J (2010). Breast cancer in the young patient. Am Surg, 76, 1397-400.
  22. Sehl ME, Langer LR, Papp JC, et al (2009). Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer. Clin Cancer Res, 15, 2192-203. https://doi.org/10.1158/1078-0432.CCR-08-1417
  23. Singletary SE (2003). Rating the risk factors for breast cancer. Ann Surg, 237, 474-82.
  24. Smigal C, Jemal A, Ward E, et al (2006). Trends in breast cancer by race and ethnicity: update 2006. CA Cancer J Clin, 56, 168-83. https://doi.org/10.3322/canjclin.56.3.168
  25. Stewart BW and Kleihues P (2003). World Cancer Report. IARC Press.
  26. Teare MD, Wallace SA, Harris M, et al (1994). Cancer experience in the relatives of an unselected series of breast cancer patients. Br J Cancer, 70, 102-11. https://doi.org/10.1038/bjc.1994.257
  27. Valerie K and Povirk LF (2003). Regulation and mechanisms of mammalian double-strand break repair. Oncogene, 22, 5792-812. https://doi.org/10.1038/sj.onc.1206679
  28. Velculescu VE (2008). Defining the blueprint of the cancer genome. Carcinogenesis, 29, 1087-91. https://doi.org/10.1093/carcin/bgn096
  29. Vogelstein B, Alberts B, Shine K (2002). Genetics. Please don't call it cloning! Science, 295, 1237. https://doi.org/10.1126/science.1070247
  30. von Elm E, Altman DG, Egger M, et al (2007). The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. Lancet, 370, 1453-7. https://doi.org/10.1016/S0140-6736(07)61602-X
  31. Wu CN, Liang SY, Tsai CW, et al (2008). The role of XRCC4 in carcinogenesis and anticancer drug discovery. Recent Pat Anticancer Drug Discov, 3, 209-19.
  32. Yu Z, Chen J, Ford BN, et al (1999). Human DNA repair systems: an overview. Environ Mol Mutagen, 33, 3-20. https://doi.org/10.1002/(SICI)1098-2280(1999)33:1<3::AID-EM2>3.0.CO;2-L
  33. Zhang L, Liu JL, Zhang YJ, et al (2011). Association between $HLA-B^\ast27$ polymorphisms and ankylosing spondylitis in Han populations: a meta-analysis. Clin Exp Rheumatol, 29, 285-92.
  34. Zintzaras E and Ioannidis JP (2005). Heterogeneity testing in meta-analysis of genome searches. Genet Epidemiol, 28, 123-37. https://doi.org/10.1002/gepi.20048

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