Sterpone Silvia, Cozzi Renata
Department of Biology, University of "Roma TRE", Viale Guglielmo Marconi 446, 00146 Rome, Italy.
J Nucleic Acids. 2010 Jul 25;2010:780369. doi: 10.4061/2010/780369.
It is well known that ionizing radiation (IR) can damage DNA through a direct action, producing single- and double-strand breaks on DNA double helix, as well as an indirect effect by generating oxygen reactive species in the cells. Mammals have evolved several and distinct DNA repair pathways in order to maintain genomic stability and avoid tumour cell transformation. This review reports important data showing a huge interindividual variability on sensitivity to IR and in susceptibility to developing cancer; this variability is principally represented by genetic polymorphisms, that is, DNA repair gene polymorphisms. In particular we have focussed on single nucleotide polymorphisms (SNPs) of XRCC1, a gene that encodes for a scaffold protein involved basically in Base Excision Repair (BER). In this paper we have reported and presented recent studies that show an influence of XRCC1 variants on DNA repair capacity and susceptibility to breast cancer.
众所周知,电离辐射(IR)可通过直接作用损伤DNA,在DNA双螺旋上产生单链和双链断裂,还可通过在细胞中产生氧活性物质产生间接效应。哺乳动物进化出了多种不同的DNA修复途径,以维持基因组稳定性并避免肿瘤细胞转化。本综述报告了重要数据,显示个体对IR的敏感性以及患癌易感性存在巨大差异;这种差异主要由基因多态性,即DNA修复基因多态性所体现。特别是,我们聚焦于XRCC1的单核苷酸多态性(SNP),该基因编码一种主要参与碱基切除修复(BER)的支架蛋白。在本文中,我们报告并展示了近期研究,这些研究表明XRCC1变体对DNA修复能力和乳腺癌易感性有影响。