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Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma

M J Wang1, Y Zhu1, X J Guo1

  • 1Department of Orthopaedics, Xinxiang Central Hospital, Xinxiang, China.

Genetics and Molecular Research : GMR
|October 6, 2015
PubMed

Insights

Certain DNA repair gene variants, specifically ERCC1 rs11615 and ERCC2 rs1799793, show promise as prognostic markers for osteosarcoma patients. These findings may aid in predicting patient survival outcomes.

Area of Science:

  • Genetics and Molecular Biology
  • Oncology
  • DNA Repair Mechanisms

Background:

  • Osteosarcoma prognosis is influenced by various factors, including genetic predispositions.
  • The Nucleotide Excision Repair (NER) pathway plays a crucial role in DNA damage repair and may impact cancer development and progression.
  • Identifying genetic markers associated with NER could improve prognostic accuracy for osteosarcoma.

Purpose of the Study:

  • To investigate the prognostic significance of specific gene polymorphisms within the NER pathway in osteosarcoma patients.
  • To evaluate the association between ERCC1, ERCC2, ERCC4, and ERCC5 gene variants and patient survival outcomes.

Main Methods:

  • A prospective study involving 146 osteosarcoma patients recruited between 2008 and 2013.
  • Genotyping of ERCC1 (rs11615), ERCC2 (rs13181 and rs1799793), ERCC4 (rs1800067), and ERCC5 (rs17655) polymorphisms using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  • Multivariate Cox proportional hazards models were employed to analyze the association between genotypes and survival.

Main Results:

  • Carriers of the ERCC1 rs11615 TT genotype exhibited significantly favorable survival compared to the wild-type CC genotype (adjusted OR = 0.24, 95% CI = 0.08-0.96).
  • Individuals with the ERCC2 rs1799793 AA genotype were associated with decreased hazards of death in multivariate analysis (HR = 0.22, 95% CI = 0.12-0.93).
  • No significant associations were found for ERCC2 rs13181, ERCC4 rs1800067, or ERCC5 rs17655 polymorphisms with osteosarcoma prognosis.

Conclusions:

  • The ERCC1 rs11615 TT genotype and ERCC2 rs1799793 AA genotype may serve as valuable genetic prognostic markers for osteosarcoma.
  • These findings suggest potential for incorporating specific NER pathway gene polymorphisms into clinical assessments for predicting osteosarcoma patient outcomes, particularly in Chinese populations.

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