Table of Contents Author Guidelines Submit a Manuscript
Gastroenterology Research and Practice
Volume 2017 (2017), Article ID 3840243, 7 pages
https://doi.org/10.1155/2017/3840243
Research Article

Modulation of Colorectal Cancer Risk by Polymorphisms in 51Gln/His, 64Ile/Val, and 148Asp/Glu of APEX Gene; 23Gly/Ala of XPA Gene; and 689Ser/Arg of ERCC4 Gene

1Department of General and Colorectal Surgery, Medical University of Lodz, Lodz, Poland
2Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Lodz, Poland

Correspondence should be addressed to I. Majsterek; lp.zdol.demu@keretsjam.zsueneri

Received 21 September 2016; Revised 1 December 2016; Accepted 7 December 2016; Published 12 March 2017

Academic Editor: Nicola Silvestris

Copyright © 2017 L. Dziki et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J. Ferlay, I. Soerjomataram, R. Dikshit et al., “Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012,” International Journal of Cancer, vol. 136, no. 5, pp. E359–E386, 2015. View at Publisher · View at Google Scholar · View at Scopus
  2. International Agency for Research on Cancer, WHO: GLOBCAN, Estimated Cancer Incidence, Mortality and Prevalence Worldwide: Colorectal Cancer, 2012.
  3. L. Aaltonen, L. Johns, H. Järvinen, J. P. Mecklin, and R. Houlston, “Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors,” Clinical Cancer Research, vol. 13, no. 1, pp. 356–361, 2007. View at Publisher · View at Google Scholar · View at Scopus
  4. W. M. Abdel-Rahman and P. Peltomaki, “Lynch syndrome and related familial colorectal cancers,” Critical Reviews in Oncogenesis, vol. 14, no. 1, 2008. View at Google Scholar
  5. S. N. Thibodeau, G. Bren, and D. Schaid, “Microsatellite instability in cancer of the proximal colon,” Science, vol. 260, no. 5109, pp. 816–819, 1993. View at Publisher · View at Google Scholar
  6. L. A. Aaltonen, P. Peltomäki, F. S. Leach et al., “Clues to the pathogenesis of familial colorectal cancer,” Science, vol. 260, no. 5109, pp. 812–816, 1993. View at Publisher · View at Google Scholar
  7. N. Seguí, L. B. Mina, C. Lázaro et al., “Germline mutations in FAN1 cause hereditary colorectal cancer by impairing DNA repair,” Gastroenterology, vol. 149, no. 3, pp. 563–566, 2015. View at Publisher · View at Google Scholar · View at Scopus
  8. B. Liu, R. Parsons, N. Papadopoulos et al., “Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients,” Nature Medicine, vol. 2, no. 2, pp. 169–174, 1996. View at Publisher · View at Google Scholar · View at Scopus
  9. R. Fishel, M. K. Lescoe, M. R. Rao et al., “The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer,” Cell, vol. 75, no. 5, pp. 1027–1038, 1993. View at Publisher · View at Google Scholar · View at Scopus
  10. A. K. Win, J. P. Young, N. M. Lindor et al., “Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study,” Journal of Clinical Oncology, vol. 30, no. 9, pp. 958–964, 2012. View at Publisher · View at Google Scholar · View at Scopus
  11. Y. Li, S. Li, Z. Wu et al., “Polymorphisms in genes of APE1, PARP1, and XRCC1: risk and prognosis of colorectal cancer in a northeast Chinese population,” Medical Oncology, vol. 30, no. 2, pp. 1–7, 2013. View at Google Scholar
  12. M. G. Dunlop, S. E. Dobbins, S. M. Farrington et al., “Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk,” Nature Genetics, vol. 44, no. 7, pp. 770–776, 2012. View at Publisher · View at Google Scholar · View at Scopus
  13. A. D. Beggs, E. Domingo, M. McGregor et al., “Loss of expression of the double strand break repair protein ATM is associated with worse prognosis in colorectal cancer and loss of Ku70 expression is associated with CIN,” Oncotarget, vol. 3, no. 11, pp. 1348–1355, 2012. View at Publisher · View at Google Scholar
  14. X. Zhang, J. Yeo, E. L. Crawford, and J. C. Willey, “Investigation of C/EBPG transcription factor role in regulation of ERCC4 and ERCC5 in human lung cancer cells,” Cancer Research, vol. 74, 19 Supplement, pp. 3381–3381, 2014. View at Publisher · View at Google Scholar
  15. S. Kohlhase, N. V. Bogdanova, P. Schürmann et al., “Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer,” PloS One, vol. 9, no. 1, article e85334, 2014. View at Publisher · View at Google Scholar · View at Scopus
  16. B. Lu, J. Li, Q. Gao, W. Yu, Q. Yang, and X. Li, “Laryngeal cancer risk and common single nucleotide polymorphisms in nucleotide excision repair pathway genes ERCC1, ERCC2, ERCC3, ERCC4, ERCC5 and XPA,” Gene, vol. 542, no. 1, pp. 64–68, 2014. View at Publisher · View at Google Scholar · View at Scopus
  17. Y. Lou, R. Li, Y. Zhang et al., “XPA gene rs1800975 single nucleotide polymorphism and lung cancer risk: a meta-analysis,” Tumor Biology, vol. 35, no. 7, pp. 6607–6617, 2014. View at Publisher · View at Google Scholar · View at Scopus
  18. S. C. Koch, N. Simon, C. Ebert, and T. Carell, “Molecular mechanisms of xeroderma pigmentosum (XP) proteins,” Quarterly Reviews of Biophysics, vol. 49, article e5, 2016. View at Publisher · View at Google Scholar
  19. J. de Boer and J. H. Hoeijmakers, “Nucleotide excision repair and human syndromes,” Carcinogenesis, vol. 21, no. 3, pp. 453–460, 2000. View at Publisher · View at Google Scholar
  20. R. J. Hung, J. Hall, P. Brennan, and P. Boffetta, “Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review,” American Journal of Epidemiology, vol. 162, no. 10, pp. 925–942, 2005. View at Publisher · View at Google Scholar · View at Scopus
  21. M. Kasahara, K. Osawa, K. Yoshida et al., “Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population,” Journal of Experimental & Clinical Cancer Research, vol. 27, no. 1, p. 1, 2008. View at Google Scholar
  22. C. Ryk, R. Kumar, R. K. Thirumaran, and S. M. Hou, “Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never-and ever-smokers,” Lung Cancer, vol. 54, no. 3, pp. 285–292, 2006. View at Publisher · View at Google Scholar · View at Scopus
  23. C. D. Mol, D. J. Hosfield, and J. A. Tainer, “Abasic site recognition by two apurinic/apyrimidinic endonuclease families in DNA base excision repair: the 3′ ends justify the means,” Mutation Research/DNA Repair, vol. 460, no. 3, pp. 211–229, 2000. View at Publisher · View at Google Scholar · View at Scopus
  24. M. Shen, S. I. Berndt, N. Rothman et al., “Polymorphisms in the DNA base excision repair genes APEX1 and XRCC1 and lung cancer risk in Xuan Wei, China,” Anticancer Research, vol. 25, no. 1B, pp. 537–542, 2005. View at Google Scholar
  25. C. Kiyohara, K. Takayama, and Y. Nakanishi, “Association of genetic polymorphisms in the base excision repair pathway with lung cancer risk: a meta-analysis,” Lung Cancer, vol. 54, no. 3, pp. 267–283, 2006. View at Publisher · View at Google Scholar · View at Scopus
  26. M. Yin, Z. Liao, Z. Liu et al., “Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non–small cell lung cancer treated with definitive radiation therapy,” International Journal of Radiation Oncology Biology Physics, vol. 81, no. 3, pp. e67–e73, 2011. View at Google Scholar
  27. R. Gangawar, D. Ahirwar, A. Mandhani, and R. D. Mittal, “Impact of nucleotide excision repair ERCC2 and base excision repair APEX1 genes polymorphism and its association with recurrence after adjuvant BCG immunotherapy in bladder cancer patients of North India,” Medical Oncology, vol. 27, no. 2, pp. 159–166, 2010. View at Publisher · View at Google Scholar · View at Scopus
  28. Y. Zhang, P. A. Newcomb, K. M. Egan et al., “Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer,” Cancer Epidemiology Biomarkers & Prevention, vol. 15, no. 2, pp. 353–358, 2006. View at Google Scholar
  29. E. Canbay, B. Cakmakoglu, U. Zeybek et al., “Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population,” Current Medical Research and Opinion, vol. 27, no. 7, pp. 1295–1302, 2011. View at Publisher · View at Google Scholar · View at Scopus
  30. A. Brevik, A. D. Joshi, R. Corral et al., “Polymorphisms in base excision repair genes as colorectal cancer risk factors and modifiers of the effect of diets high in red meat,” Cancer Epidemiology Biomarkers & Prevention, vol. 19, no. 12, pp. 3167–3173, 2010. View at Google Scholar
  31. R. D. Hansen, M. Sørensen, A. Tjønneland et al., “XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer,” Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, vol. 619, no. 1, pp. 68–80, 2007. View at Publisher · View at Google Scholar · View at Scopus
  32. J. Liu, Z. Zhang, X. L. Cao et al., “XPA A23G polymorphism and susceptibility to cancer: a meta-analysis,” Molecular Biology Reports, vol. 39, no. 6, pp. 6791–6799, 2012. View at Publisher · View at Google Scholar · View at Scopus
  33. F. Kamangar, G. M. Dores, and W. F. Anderson, “Patterns of cancer incidence, mortality, and prevalence across five continents: defining priorities to reduce cancer disparities in different geographic regions of the world,” Journal of Clinical Oncology, vol. 24, no. 14, pp. 2137–2150, 2006. View at Publisher · View at Google Scholar · View at Scopus
  34. M. Manuguerra, F. Saletta, M. R. Karagas et al., “XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review,” American Journal of Epidemiology, vol. 164, no. 4, pp. 297–302, 2006. View at Publisher · View at Google Scholar · View at Scopus
  35. J. Kabzinski, B. Mucha, M. Cuchra et al., “Efficiency of base excision repair of oxidative DNA damage and its impact on the risk of colorectal cancer in the polish population,” Oxidative Medicine and Cellular Longevity, vol. 2016, Article ID 3125989, 9 pages, 2016. View at Publisher · View at Google Scholar · View at Scopus
  36. L. W. Hahn, M. D. Ritchie, and J. H. Moore, “Multifactor dimensionality reduction software for detecting gene–gene and gene–environment interactions,” Bioinformatics, vol. 19, no. 3, pp. 376–382, 2003. View at Publisher · View at Google Scholar · View at Scopus
  37. E. L. Goode, C. M. Ulrich, and J. D. Potter, “Polymorphisms in DNA repair genes and associations with cancer risk,” Cancer Epidemiology Biomarkers & Prevention, vol. 11, no. 12, pp. 1513–1530, 2002. View at Google Scholar
  38. J. Kabzinski, K. Przybylowska, L. Dziki, A. Dziki, and I. Majsterek, “An association of selected ERCC2 and ERCC5 genes polymorphisms, the level of oxidative DNA damage and its repair efficiency with a risk of colorectal cancer in polish population,” Cancer Biomarkers, vol. 15, no. 4, pp. 413–423, 2015. View at Publisher · View at Google Scholar · View at Scopus
  39. D. G. Cox, R. M. Tamimi, and D. J. Hunter, “Gene × gene interaction between MnSOD and GPX-1 and breast cancer risk: a nested case–control study,” BMC Cancer, vol. 6, no. 1, p. 1, 2006. View at Publisher · View at Google Scholar · View at Scopus
  40. B. Plosky, L. Samson, B. P. Engelward et al., “Base excision repair and nucleotide excision repair contribute to the removal of N-methylpurines from active genes,” DNA Repair, vol. 1, no. 8, pp. 683–696, 2002. View at Publisher · View at Google Scholar · View at Scopus