Journals / Experimed / 2026 / Volume: 16 Issue: 1

Influence of Base Excision Repair gene hOGG1, XRCC1, and APE1 Polymorphisms on Renal Cell Carcinoma Susceptibility and Progression

Parvana Mikailova(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, DEPARTMENT OF BASIC MEDICAL SCIENCES, DEPARTMENT OF BIOCHEMISTRY)0000-0002-6883-9051
Rifat Burak Ergül(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, DEPARTMENT OF SURGICAL MEDICAL SCIENCES, THE DEPARTMENT OF UROLOGY)0000-0001-6262-9582
Canan Kucukgergin(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, DEPARTMENT OF BASIC MEDICAL SCIENCES, DEPARTMENT OF BIOCHEMISTRY)0000-0002-1797-5889
Selçuk Erdem(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, DEPARTMENT OF INTERNAL MEDICINE, DEPARTMENT OF RADIATION ONCOLOGY, MEDICAL ONCOLOGY)0000-0002-3514-1394
Tzevat Tefik(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, İSTANBUL MEDICINE PR.)0000-0002-1398-8332
Mehmet Öner Şanlı(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, İSTANBUL MEDICINE PR.)0000-0001-5801-6898
Faruk Özcan(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, İSTANBUL MEDICINE PR.)0000-0001-7544-6638
Şule Seçkin(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, DEPARTMENT OF BASIC MEDICAL SCIENCES, DEPARTMENT OF BIOCHEMISTRY)0000-0002-5496-4169
Journal
Experimed
Pages
—
Publication Date
2026-08-27
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: Our findings suggest XRCC1 and APE1 gene polymorphisms that contribute to BER pathway may regulate RCC susceptibility in a Turkish population.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: We aimed to explore whether polymorphisms in hOGG1 XRCC1 and APE1 genes influenced the initiation and progression of renal cell carcinoma (RCC) and to investigate the relationship between polymorphisms of the three base excision repair (BER) genes with cigarette smoking among RCC patients.
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Key Findings & Data:Material and Method: This study involved 211 controls and 129 patients.
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Conclusion & Impact:Conclusion: Our findings suggest XRCC1 and APE1 gene polymorphisms that contribute to BER pathway may regulate RCC susceptibility in a Turkish population.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:hOGG1 · XRCC1 · APE1

Abstract

Objective: We aimed to explore whether polymorphisms in hOGG1 XRCC1 and APE1 genes influenced the initiation and progression of renal cell carcinoma (RCC) and to investigate the relationship between polymorphisms of the three base excision repair (BER) genes with cigarette smoking among RCC patients. Material and Method: This study involved 211 controls and 129 patients. The polymorphisms of DNA repair genes hOGG1 Ser326Cys, XRCC1 Arg399Gln and APE1 Asp148Glu were explored by PCR-RFLP. Results: The result of our study identified no significant association between hOGG1 Ser326Cys polymorphism and RCC risk. However, our finding revealed a statistically significant risk between Gln allele of XRCC1 399 and Glu allele of APE1 148 genes and RCC risk. In addition, XRCC1 399 Gln allele increased significantly the initiation of RCC when accompanied by smoking status. On the other hand, the comparison of variant genotypes of hOGG1, XRCC1 and APE1 genes with tumor stage and grade indicated that three were no significant correlations with the progression of RCC. Conclusion: Our findings suggest XRCC1 and APE1 gene polymorphisms that contribute to BER pathway may regulate RCC susceptibility in a Turkish population.

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Cite This Article

Mikailova, P., Ergül, R. B., Kucukgergin, C., Erdem, S., Tefik, T., Şanlı, M. Ö., Özcan, F., Seçkin, Ş. (2026). Influence of Base Excision Repair gene hOGG1, XRCC1, and APE1 Polymorphisms on Renal Cell Carcinoma Susceptibility and Progression. Experimed, Volume: 16 Issue: 1. https://doi.org/10.26650/experimed.1801750

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References (39)

  1. Capitanio U, Bensalah K, Bex A, Boorjian SA, Bray F, Coleman J, et al. Epidemiology of renal cell carcinoma. Eur Urol 2019; 75(1): 74-84. google scholar
  2. Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, et al. Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. J Clin Oncol 2014; 32(5): 431-7. google scholar
  3. Kauffman EC, Ricketts CJ, Rais-Bahrami S, Yang Y, Merino MJ, Bottaro DP, et al. Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers. Nat Rev Urol 2014; 11(8): 465-75. google scholar
  4. Berwick M, Vineis P. Markers of DNA repair and susceptibility to cancer in humans: an epidemiologic review. J Natl Cancer Inst 2000; 92(11): 874-97. google scholar
  5. Wallace SS, Murphy DL, Sweasy JB. Base excision repair and cancer. Cancer Lett 2012; 327(1-2): 73-89. google scholar
  6. Wilson DM, 3rd, Bohr VA. The mechanics of base excision repair, and its relationship to aging and disease. DNA Repair (Amst) 2007; 6(4): 544-59. google scholar
  7. Thomas D, Scot AD, Barbey R, Padula M, Boiteux S. Inactivation of OGG1 increases the incidence of G. C–>T. A transversions in Saccharomyces cerevisiae: evidence for endogenous oxidative damage to DNA in eukaryotic cells. Mol Gen Genet 1997; 254(2): 171-8. google scholar
  8. Hegde ML, Izumi T, Mitra S. Oxidized base damage and single-strand break repair in mammalian genomes: role of disordered regions and posttranslational modifications in early enzymes. Prog Mol Biol Transl Sci 2012; 110: 123-53. google scholar
  9. Ghelmani Y, Asadian F, Antikchi MH, Dastgheib SA, Shaker SH, Jafari-Nedooshan J, et al. Association between the hOGG1 1245C>G (rs1052133) polymorphism and susceptibility to colorectal cancer: a meta-analysis based on 7010 cases and 10,674 controls. J Gastrointest Cancer 2021; 52(2): 389-98. google scholar
  10. Dhillon VS, Yeoh E, Fenech M. DNA repair gene polymorphisms and prostate cancer risk in South Australia–results of a pilot study. Urol Oncol 2011; 29(6): 641-6. google scholar
  11. Schreiber V, Ame JC, Dolle P, Schultz I, Rinaldi B, Fraulob V, et al. Poly(ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1. J Biol Chem 2002; 277(25): 23028-36. google scholar
  12. Hanzlikova H, Gittens W, Krejcikova K, Zeng Z, Caldecott KW. Overlapping roles for PARP1 and PARP2 in the recruitment of endogenous XRCC1 and PNKP into oxidized chromatin. Nucleic Acids Res 2017; 45(5): 2546-57. google scholar
  13. Lei YC, Hwang SJ, Chang CC, Kuo HW, Luo JC, Chang MJ, et al. Effects on sister chromatid exchange frequency of polymorphisms in DNA repair gene XRCC1 in smokers. Mutat Res 2002; 519(1-2): 93-101. google scholar
  14. Lunn RM, Langlois RG, Hsieh LL, Thompson CL, Bell DA. XRCC1 polymorphisms: effects on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res 1999; 59(11): 2557-61. google scholar
  15. Hu JJ, Smith TR, Miller MS, Mohrenweiser HW, Golden A, Case LD. Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity. Carcinogenesis 2001; 22(6): 917-22. google scholar
  16. Izumi T, Hazra TK, Boldogh I, Tomkinson AE, Park MS, Ikeda S, et al. Requirement for human AP endonuclease 1 for repair of 3'-blocking damage at DNA single-strand breaks induced by reactive oxygen species. Carcinogenesis 2000; 21(7): 1329-34. google scholar
  17. Saad AM, Abdel-Megied AES, Elbaz RA, Hassab El-Nabi SE, Elshazli RM. Genetic variants of APEX1 p.Asp148Glu and XRCC1 p.Gln399Arg with the susceptibility of hepatocellular carcinoma. J Med Virol 2021; 93(11): 6278-91. google scholar
  18. Li H, Hao X, Zhang W, Wei Q, Chen K. The hOGG1 Ser326Cys polymorphism and lung cancer risk: a meta-analysis. Cancer Epidemiol Biomarkers Prev 2008; 17(7): 1739-45. google scholar
  19. Sturgis EM, Castillo EJ, Li L, Zheng R, Eicher SA, Clayman GL, et al. Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck. Carcinogenesis 1999; 20(11): 2125-9. google scholar
  20. Campalans A, Moritz E, Kortulewski T, Biard D, Epe B, Radicella JP. Interaction with OGG1 is required for efficient recruitment of XRCC1 to base excision repair and maintenance of genetic stability after exposure to oxidative stress. Mol Cell Biol 2015; 35(9): 1648-58. google scholar
  21. Noren Hooten N, Kompaniez K, Barnes J, Lohani A, Evans MK. Poly(ADP-ribose) polymerase 1 (PARP-1) binds to 8-oxoguanine-DNA glycosylase (OGG1). J Biol Chem 2011; 286(52): 44679-90. google scholar
  22. Saitoh T, Shinmura K, Yamaguchi S, Tani M, Seki S, Murakami H, et al. Enhancement of OGG1 protein AP lyase activity by increase of APEX protein. Mutat Res 2001; 486(1): 31-40. google scholar
  23. Allgayer J, Kitsera N, Bartelt S, Epe B, Khobta A. Widespread transcriptional gene inactivation initiated by a repair intermediate of 8-oxoguanine. Nucleic Acids Res 2016; 44(15): 7267-80. google scholar
  24. Zhao H, Qin C, Yan F, Wu B, Cao Q, Wang M, et al. hOGG1 Ser326Cys polymorphism and renal cell carcinoma risk in a Chinese population. DNA Cell Biol 2011; 30(5): 317-21. google scholar
  25. Rajagopal T, Seshachalam A, Rathnam KK, Jothi A, Viswanathan S, Talluri S, et al. DNA repair genes hOGG1, XRCC1 and ERCC2 polymorphisms and their molecular mapping in breast cancer patients from India. Mol Biol Rep 2020; 47(7): 5081-90. google scholar
  26. Li Q, Wang JM, Peng Y, Zhang SH, Ren T, Luo H, et al. Association of DNA base-excision repair XRCC1, OGG1 and APE1 gene polymorphisms with nasopharyngeal carcinoma susceptibility in a Chinese population. Asian Pac J Cancer Prev 2013; 14(9): 5145-51. google scholar
  27. Breslin C, Hornyak P, Ridley A, Rulten SL, Hanzlikova H, Oliver AW, et al. The XRCC1 phosphate-binding pocket binds poly (ADP-ribose) and is required for XRCC1 function. Nucleic Acids Res 2015; 43(14): 6934-44. google scholar
  28. Hirata H, Hinoda Y, Matsuyama H, Tanaka Y, Okayama N, Suehiro Y, et al. Polymorphisms of DNA repair genes are associated with renal cell carcinoma. Biochem Biophys Res Commun 2006; 342(4): 1058-62. google scholar
  29. Sakano S, Hinoda Y, Okayama N, Kawai Y, Korenaga Y, Eguchi S, et al. The association of DNA repair gene polymorphisms with the development and progression of renal cell carcinoma. Ann Oncol 2007; 18(11): 1817-27. google scholar
  30. Bachmann HS, Rubben H, Schmid KW, Siffert W, Riemann K. DNA repair gene XRCC1 polymorphisms and outcome of renal cell carcinoma in Caucasian patients. Anticancer Res 2009; 29(12): 5131-5. google scholar
  31. Hsueh YM, Lin YC, Chen WJ, Huang CY, Shiue HS, Pu YS, et al. The polymorphism XRCC1 Arg194Trp and 8-hydroxydeoxyguanosine increased susceptibility to arsenic-related renal cell carcinoma. Toxicol Appl Pharmacol 2017; 332: 1-7. google scholar
  32. Huang Y, Li X, He J, Chen L, Huang H, Liang M, et al. Genetic polymorphisms in XRCC1 genes and colorectal cancer susceptibility. World J Surg Oncol 2015; 13: 244. google scholar
  33. Kabzinski J, Maczynska M, Kaczmarczyk D, Majsterek I. Influence of Arg399Gln, Arg280His and Arg194Trp XRCC1 gene polymorphisms of Base Excision Repair pathway on the level of 8-oxo-guanine and risk of head and neck cancer in the Polish population. Cancer Biomark 2021; 32(3): 317-26. google scholar
  34. Kaur J, Sambyal V, Guleria K, Singh NR, Uppal MS, Manjari M, et al. Association of XRCC1, XRCC2 and XRCC3 gene polymorphism with esophageal cancer risk. Clin Exp Gastroenterol 2020; 13: 73-86. google scholar
  35. Costa EF, Santos ES, Liutti VT, Leal F, Santos VC, Rinck-Junior JA, et al. Association between polymorphisms in genes related to DNA base-excision repair with risk and prognosis of oropharyngeal squamous cell carcinoma. J Cancer Res Clin Oncol 2016; 142(9): 1917-26. google scholar
  36. Chen Y, Li J, Mo Z. Association between the APEX1 Asp148Glu polymorphism and prostate cancer, especially among Asians: a new evidence-based analysis. Oncotarget 2016; 7(32): 52530-40. google scholar
  37. Mittal RD, Mandal RK, Gangwar R. Base excision repair pathway genes polymorphism in prostate and bladder cancer risk in North Indian population. Mech Ageing Dev 2012; 133(4): 127-32. google scholar
  38. Li Z, Guan W, Li MX, Zhong ZY, Qian CY, Yang XQ, et al. Genetic polymorphism of DNA base-excision repair genes (APE1, OGG1 and XRCC1) and their correlation with risk of lung cancer in a Chinese population. Arch Med Res 2011; 42(3): 226-34. google scholar
  39. Thomas D, Scot AD, Barbey R, Padula M, Boiteux S. Inactivation of OGG1 increases the incidence of G. C–>T. A transversions in Saccharomyces cerevisiae: evidence for endogenous oxidative damage to DNA in eukaryotic cells. Mol Gen Genet 1997; 254(2): 171-8. google scholar