Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, People's Republic of China.
Breast Cancer Res Treat. 2011 Feb;125(3):827-35. doi: 10.1007/s10549-010-0995-8. Epub 2010 Jul 17.
Growing evidence suggests that RAD51 plays a pivotal role in the repair of DNA double-strand breaks and the maintenance of genomic stability. A single nucleotide polymorphism, 135G/C, has been identified in the 5' untranslated region of the RAD51 gene and has been shown to influence gene transcription activity. Previous studies yielded conflicting results as to the association of 135G/C polymorphism with breast cancer. We aimed to assess the effect of 135G/C of RAD51 on breast cancer susceptibility with the use of a meta-analysis. We performed a meta-analysis of 21 published case-control studies up to April 2010. We found that the CC genotype was associated with a significantly increased risk of breast cancer when compared with the GG, CG, and CG/GG genotypes. Subgroup analyses showed that individuals carrying the CC genotype were associated with an elevated tumor risk in European populations and in sporadic breast cancer. After stratified analyses according to manuscript quality, the CC genotype was associated with a significantly increased risk of breast cancer compared with the CG genotype in studies of both higher and lower quality. However, significantly elevated risk was found in studies of higher quality, but not in studies of lower quality when homozygote and a recessive comparison model were tested. This meta-analysis indicates that RAD51 135G/C polymorphism may be identified as a susceptibility locus for breast cancer.
越来越多的证据表明，RAD51 在修复 DNA 双链断裂和维持基因组稳定性方面起着关键作用。RAD51 基因 5'非翻译区的单核苷酸多态性 135G/C 已被确定，并已显示出影响基因转录活性。先前的研究结果表明，135G/C 多态性与乳腺癌之间存在关联，但结果相互矛盾。我们旨在使用荟萃分析评估 RAD51 135G/C 对乳腺癌易感性的影响。我们对截至 2010 年 4 月的 21 项已发表的病例对照研究进行了荟萃分析。我们发现与 GG、CG 和 CG/GG 基因型相比，CC 基因型与乳腺癌的风险显著增加相关。亚组分析表明，与欧洲人群和散发性乳腺癌相比，携带 CC 基因型的个体与肿瘤风险升高相关。根据文献质量进行分层分析后，与 CG 基因型相比，CC 基因型在高质量和低质量研究中均与乳腺癌的风险显著增加相关。然而，当进行同型和隐性比较模型测试时，仅在高质量研究中发现风险显著升高，而在低质量研究中则未发现。这项荟萃分析表明，RAD51 135G/C 多态性可能被确定为乳腺癌的易感位点。
