Reprint of: gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function

Valeria Simonelli; Filomena Mazzei; Mariarosaria D'Errico; Eugenia Dogliotti

doi:10.1016/j.mrfmmm.2012.06.003

Reprint of: gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function

Mutat Res. 2012 Aug 1;736(1-2):104-16. doi: 10.1016/j.mrfmmm.2012.06.003. Epub 2012 Jun 23.

Authors

Valeria Simonelli¹, Filomena Mazzei, Mariarosaria D'Errico, Eugenia Dogliotti

Affiliation

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

PMID: 22732424
DOI: 10.1016/j.mrfmmm.2012.06.003

Abstract

Oxidative damage to DNA can cause mutations, and mutations can lead to cancer. DNA repair of oxidative damage should therefore play a pivotal role in defending humans against cancer. This is exemplified by the increased risk of colorectal cancer of patients with germ-line mutations of the oxidative damage DNA glycosylase MUTYH. In contrast to germ-line mutations in DNA repair genes, which cause a strong deficiency in DNA repair activity in all cell types, the role of single nucleotide polymorphisms (SNPs) in sporadic cancer is unclear also because deficiencies in DNA repair, if any, are expected to be much milder. Further slowing down progress are the paucity of accurate and reproducible functional assays and poor epidemiological design of many studies. This review will focus on the most common and widely studied SNPs of oxidative DNA damage repair proteins trying to bridge the information available on biochemical and structural features of the repair proteins with the functional effects of these variants and their potential impact on the pathogenesis of disease.