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Translesion polymerase genes polymorphisms and haplotypes influence survival of osteosarcoma patients

Katja Goričar1, Viljem Kovač, Janez Jazbec

  • 11 Pharmacogenetics Laboratory, Institute of Biochemistry , Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia .

Omics : a Journal of Integrative Biology
|March 10, 2015
PubMed

Insights

Specific gene variants in translesion polymerases REV1 and REV3L may predict how well osteosarcoma patients respond to cisplatin chemotherapy, impacting their survival outcomes.

Area of Science:

  • Genetics and Molecular Biology
  • Oncology
  • Pharmacogenomics

Background:

  • Chemotherapeutic agents like cisplatin induce DNA damage, crucial for their cytotoxic effect.
  • Translesion polymerases (TLPs) are involved in repairing DNA interstrand crosslinks, a severe form of DNA damage.
  • Altered TLP gene expression can influence sensitivity to DNA-damaging agents.

Purpose of the Study:

  • To investigate the association between polymorphisms in translesion polymerase genes REV1 and REV3L and survival in osteosarcoma patients treated with cisplatin-based chemotherapy.
  • To determine if specific REV1 and REV3L gene variants can serve as predictive biomarkers for treatment outcomes.

Main Methods:

  • Genotyping of common functional tag polymorphisms in REV1 (rs3087403) and REV3L (rs462779) was performed in 66 osteosarcoma patients.
  • Survival analysis, including event-free survival (EFS) and overall survival (OS), was conducted using Cox regression.
  • The impact of individual polymorphisms and their combinations on patient survival was assessed.

Main Results:

  • Carriers of at least one polymorphic REV1 rs3087403 allele showed significantly shorter EFS and OS.
  • A significant association was found between the REV1 rs3087403 polymorphism and reduced survival.
  • The combined effect of REV1 rs3087403 and REV3L rs462779 polymorphisms was significantly associated with shorter OS and EFS.

Conclusions:

  • Polymorphisms in translesion polymerase genes REV1 and REV3L may influence the survival of osteosarcoma patients undergoing cisplatin-based chemotherapy.
  • These genetic variations could potentially serve as predictive biomarkers for treatment response and patient outcomes.
  • This study highlights the importance of pharmacogenomics in personalizing osteosarcoma treatment strategies.

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