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Gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function

Valeria Simonelli1, Filomena Mazzei, Mariarosaria D'Errico

  • 1Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Rome, Italy. valeria.simonelli@iss.it

Mutation Research
|December 14, 2011
PubMed

Insights

DNA repair of oxidative damage is crucial for cancer prevention. This review examines how common genetic variations (SNPs) in DNA repair proteins may influence cancer risk.

Area of Science:

  • Biochemistry
  • Genetics
  • Oncology

Background:

  • Oxidative DNA damage can lead to mutations and cancer.
  • Germline mutations in DNA repair genes like MUTYH increase cancer risk.
  • The role of single nucleotide polymorphisms (SNPs) in sporadic cancer is less understood due to milder effects and study limitations.

Purpose of the Study:

  • To review common SNPs in oxidative DNA damage repair proteins.
  • To correlate biochemical/structural data with functional effects of these variants.
  • To assess the potential impact of SNPs on disease pathogenesis.

Main Methods:

  • Literature review focusing on common SNPs in oxidative DNA damage repair proteins.
  • Analysis of biochemical and structural data for repair proteins.
  • Evaluation of functional effects and disease association studies.

Main Results:

  • The review synthesizes information on well-studied SNPs.
  • It highlights the challenges in accurately assessing functional impacts and epidemiological links.
  • It bridges molecular data with potential clinical relevance.

Conclusions:

  • Understanding SNPs in DNA repair proteins is vital for assessing cancer risk.
  • Further research with robust assays and study designs is needed.
  • This review provides a foundation for future investigations into SNP-mediated cancer pathogenesis.

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