Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
권호 표지
DOI QR코드

DOI QR Code

Predictive Impact of Common Variations in DNA Repair Genes on Clinical Outcome of Osteosarcoma

  • Bai, Sheng-Bin (Department of Anatomy & Neurobiology, Xiangya School of Medicine, Central South University) ;
  • Chen, Hong-Xiang (Department of Gynecology, The People Hospital of Xinjiang Autonomous Region) ;
  • Bao, Yong-Xing (Department of Tumor Center, the First Affiliated Hospital, Xinjiang Medical University) ;
  • Luo, Xue-Gang (Department of Anatomy & Neurobiology, Xiangya School of Medicine, Central South University) ;
  • Zhong, Jin-Jie (Department of Histology and Embryology, Xinjiang Medical University)
  • Published : 2013.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

We aimed to assess the role of XPG, XPC and MMS19L polymorphisms on response to chemotherapy in osteosarcomas, and the clinical outcomes. One hundred and eighty five osteosarcoma patients who were histologically confirmed were enrolled in our study between January 2007 and December 2009. Genotyping of XPG, XPC and MMS19L was performed in a 384-well plate format on the MassARRAY$^{(R)}$ platform. Individuals with XPG TT genotype and T allele were more likely to be better response to chemotherapy than CC genotype, with the OR (95% CI) of 4.17 (1.64-11.54) and 2.66 (1.39-5.11), respectively. Those carrying MMS19L TT genotype and T allele showed better response to chemotherapy, with ORs (95% CI) of 4.8 (1.56-17.7) and 2.3 (1.22-4.36), respectively. Patients carrying TT genotype of XPG and MMS19L showed a significantly longer overall survival than CC genotype, with a 0.47 and 0.30-fold risk of death when compared with the wild-type of the gene. XPG and MMS19L are correlated with response to chemotherapy and prognosis of osteosarcoma, so that they could be used as predictive markers for prognosis.

Keywords

References

  1. Biason P, Hattinger CM, Innocenti F, et al (2012). Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy. Pharmacogenomics J, 12, 476-83. https://doi.org/10.1038/tpj.2011.33
  2. Caronia D, Patino-Garcia A, Milne RL, et al (2009). Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients. Pharmacogenomics J, 9, 347-353. https://doi.org/10.1038/tpj.2009.19
  3. Dogan M, Karabulut HG, Tukun A, et al (2012). Relationship between antimetabolite toxicity and pharmacogenetics in Turkish cancer patients. Asian Pac J Cancer Prev, 13, 1553-6. https://doi.org/10.7314/APJCP.2012.13.4.1553
  4. Friedberg EC (2003) DNA damage and repair. Nature, 421, 436-40. https://doi.org/10.1038/nature01408
  5. Giachino DF, Ghio P, Regazzoni S, et al (2007). Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer. Clin Cancer Res, 13, 2876-81. https://doi.org/10.1158/1078-0432.CCR-06-2543
  6. Graf N, Ang WH, Zhu G, et al (2011). Role of endonucleases XPF and XPG in nucleotide excision repair of platinated DNA and cisplatin/oxaliplatin cytotoxicity. Chembiochem, 12, 1115-23. https://doi.org/10.1002/cbic.201000724
  7. Hatfield MD, Reis AM, Obeso D, et al (2006). Identification of MMS19 domains with distinct functions in NER and transcription. DNA Repai), 5, 914-24. https://doi.org/10.1016/j.dnarep.2006.05.007
  8. He C, Duan Z, Li P, et al (2013). Role of ERCC5 promoter polymorphisms in response to platinum-based chemotherapy in patients with advanced non-small-cell lung cancer. Anticancer Drugs, 24, 300-305. https://doi.org/10.1097/CAD.0b013e32835bd6ce
  9. Italiano A, Laurand A, Laroche A, et al (2011). ERCC5/XPG, ERCC1, and BRCA1 gene status and clinical benefit of trabectedin in patients with soft tissue sarcoma. Cancer, 117, 3445-56. https://doi.org/10.1002/cncr.25925
  10. Koeppel F, Poindessous V, Lazar V, et al (2004). Irofulven cytotoxicity depends on transcription-coupled nucleotide excision repair and is correlated with XPG expression in solid tumor cells. Clin Cancer Res, 10, 5604-13. https://doi.org/10.1158/1078-0432.CCR-04-0442
  11. Liu D, Wu HZ, Zhang YN, et al (2012). DNA repair genes XPC, XPG polymorphisms: relation to the risk of colorectal carcinoma and therapeutic outcome with Oxaliplatin-based adjuvant chemotherapy. Mol Carcinog, 51, E83-93. https://doi.org/10.1002/mc.21862
  12. Longhi A, Errani C, De Paolis M, et al (2006). Primary bone osteosarcoma in the pediatric age: state of the art. Cancer Treat Rev, 32, 423-436. https://doi.org/10.1016/j.ctrv.2006.05.005
  13. Marina N, Gebhardt M, Teot L, et al (2004). Biology and therapeutic advances for pediatric osteosarcoma. Oncologist, 9, 422-41. https://doi.org/10.1634/theoncologist.9-4-422
  14. McWilliams RR, Bamlet WR, de Andrade M, et al (2009). Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L. Cancer Epidemiol Biomarkers Prev, 18, 1295-302. https://doi.org/10.1158/1055-9965.EPI-08-1109
  15. Mudgett JS, MacInnes MA (1990) Isolation of the functional human excision repair gene ERCC5 by intercosmid recombination. Genomics, 8, 623-33. https://doi.org/10.1016/0888-7543(90)90248-S
  16. Rabik CA, Dolan ME (2007). Molecular mechanisms of resistance and toxicity associated with platinating agents. Cancer Treat Rev, 33, 9-23. https://doi.org/10.1016/j.ctrv.2006.09.006
  17. Sakano S, Hinoda Y, Sasaki M, et al (2010). Nucleotide excision repair gene polymorphisms may predict acute toxicity in patients treated with chemoradiotherapy for bladder cancer. Pharmacogenomics, 11, 1377-87. https://doi.org/10.2217/pgs.10.106
  18. Takahashi E, Shiomi N, Shiomi T (1992) Precise localization of the excision repair gene, ERCC5, to human chromosome 13q32.3- q33.1 by direct R-banding fluorescence in situ hybridization. Jpn J Cancer Res, 83, 1117-9. https://doi.org/10.1111/j.1349-7006.1992.tb02731.x
  19. Zhang L, Gao G, Li X, et al (2012). Association between single nucleotide polymorphisms (SNPs) and toxicity of advanced non-small-cell lung cancer patients treated with chemotherapy. PLoS One, 7, e48350. https://doi.org/10.1371/journal.pone.0048350

Cited by

  1. ERCC polymorphisms and prognosis of patients with osteosarcoma vol.35, pp.10, 2014, https://doi.org/10.1007/s13277-014-2322-1
  2. Methyl-methanesulfonate sensitivity 19 expression is associated with metastasis and chemoradiotherapy response in esophageal cancer vol.21, pp.14, 2015, https://doi.org/10.3748/wjg.v21.i14.4240
  3. Genetic variations in the PRKCG gene and osteosarcoma risk in a Chinese population: a case-control study vol.36, pp.7, 2015, https://doi.org/10.1007/s13277-015-3182-z
  4. Interleukin 10 gene −1082A/G polymorphism is associated with osteosarcoma risk and poor outcomes in the Chinese population vol.37, pp.4, 2016, https://doi.org/10.1007/s13277-015-4238-9
  5. The pharmacogenomics of osteosarcoma vol.17, pp.1, 2017, https://doi.org/10.1038/tpj.2016.45
  6. Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations vol.96, pp.42, 2017, https://doi.org/10.1097/MD.0000000000008213