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Polymorphisms in human DNA repair genes and head and neck squamous cell carcinoma

Rim Khlifi1, Ahmed Rebai, Amel Hamza-Chaffai

  • 1Marine Ecotoxicology, UR 09-03, Sfax University, IPEIS, BP 805-3018 Sfax, Tunisia. rimkhlifi@yahoo.fr

Journal of Genetics
|December 29, 2012
PubMed

Insights

Genetic variations in DNA repair genes like XPD, XRCC1, and XRCC3 are linked to head and neck squamous cell carcinoma (HNSCC). Further research is needed to understand these complex gene-environment interactions for HNSCC risk.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Epidemiology

Background:

  • Genetic polymorphisms in DNA repair proteins are implicated in various cancers, including head and neck squamous cell carcinoma (HNSCC).
  • Specific genes such as Xeroderma pigmentosum group D (XPD), X-ray repair cross-complementing protein 1 (XRCC1), and XRCC3 play crucial roles in DNA repair pathways.
  • Previous studies suggest associations between polymorphisms in these DNA repair genes and HNSCC risk.

Purpose of the Study:

  • To comprehensively review and synthesize existing literature on the relationship between DNA repair gene polymorphisms and HNSCC development.
  • To explore gene-environment interactions, genotype-induced functional effects, and ethnic influences on these associations.
  • To identify gaps in current knowledge and propose directions for future research.

Main Methods:

  • Literature review of epidemiological studies investigating DNA repair gene polymorphisms and HNSCC risk.
  • Analysis of studies considering gene-environment interactions.
  • Evaluation of research examining genotype-specific enzyme activity or protein expression.
  • Consideration of the impact of ethnic origin on observed associations.

Main Results:

  • Polymorphisms in XPD, XRCC1, and XRCC3 genes have been frequently studied in relation to HNSCC.
  • Evidence suggests that these polymorphisms may influence HNSCC susceptibility, potentially modulated by environmental factors.
  • The influence of ethnic background on these associations is a significant consideration.

Conclusions:

  • Large-scale, well-designed epidemiological studies are essential for clarifying the role of common DNA repair gene polymorphisms in HNSCC.
  • Future research should consider analyzing multiple genes and polymorphisms concurrently.
  • Incorporating analyses of relevant environmental exposures is crucial for understanding HNSCC risk in individuals with reduced DNA repair capacity.

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