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Investigation on the DNA repaired gene polymorphisms and response to chemotherapy and overall survival of

Wei-Ping Ji1, Neng-Bin He1

  • 1Department of Orthopedics, Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai, China.

International Journal of Clinical and Experimental Pathology
|March 11, 2015
PubMed

Insights

Osteosarcoma patients with the ERCC1 rs11615 CC genotype showed better response to cisplatin chemotherapy. This specific DNA repair pathway polymorphism is linked to improved survival outcomes in osteosarcoma patients.

Area of Science:

  • Oncology
  • Genetics
  • Pharmacogenomics

Background:

  • Osteosarcoma treatment efficacy can vary significantly among patients.
  • Genetic variations in DNA repair pathways, such as Nucleotide Excision Repair (NER) and Homologous Recombination Repair (HRR), may influence treatment response.
  • Identifying predictive biomarkers is crucial for optimizing cisplatin-based chemotherapy in osteosarcoma.

Purpose of the Study:

  • To investigate the association between polymorphisms in NER and HRR pathway genes and the response to cisplatin-based treatment in osteosarcoma.
  • To evaluate the impact of these genetic variations on the clinical outcomes of osteosarcoma patients.

Main Methods:

  • Genotyping of ERCC1 rs11615, ERCC2 (rs1799793, rs13181), NBN rs709816, RAD51 rs1801320, and XRCC3 rs861539 was performed using Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP).
  • Statistical analyses, including conditional logistic regression and Cox proportional hazards models, were employed to assess the relationship between genotypes and treatment response/clinical outcome.
  • Data from 214 osteosarcoma patients treated with cisplatin-based chemotherapy between January 2008 and January 2011 were analyzed.

Main Results:

  • Patients with the CC genotype of ERCC1 rs11615 demonstrated a significantly better response to cisplatin-based chemotherapy compared to those with the TT genotype (OR 2.51, 95% CI 1.02-6.85).
  • The CC genotype of ERCC1 rs11615 was associated with a reduced risk of death in osteosarcoma patients, even after adjusting for confounding factors (HR 0.43, 95% CI 0.15-0.93).

Conclusions:

  • The ERCC1 rs11615 polymorphism within DNA repair pathways is a significant predictor of chemotherapy response in osteosarcoma.
  • This genetic marker may play a crucial role in determining the overall survival of osteosarcoma patients undergoing cisplatin treatment.
  • Further research into DNA repair gene polymorphisms could lead to personalized treatment strategies for osteosarcoma.
Keywords:
ERCC1 rs11615osteosarcomaoverall survivalpolymorphismresponse to chemotherapy

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