RAD51C突变与范可尼贫血及乳腺癌的相关性

Relationship between RAD51C mutation and Fanconi anemia and breast cancer

RAD51C是从辐射敏感株酵母菌细胞中克隆发现的DNA辐射损伤(DNA damage causedby radiation,rad mutant)修复基因RAD系列基因之一,其编码的蛋白RAD51C参与了真核细胞DNA双链断裂损伤(double-strand break,DSB)后同源重组修复过程的早期和末期阶段,与RAD51等其他修复基因产物一起在维系生物体基因组完整性和稳定性方面起着重要作用。近年的研究表明RAD51C的基因突变导致乳腺癌发生的风险增加,提示其可能成为又一重要的乳腺癌易感基因;另外的研究证实RAD51C为范可尼贫血(Fanconi anemia,FA)的第14个互补群基因,RAD51C是范可尼贫血通路下游的重要成分之一,而RAD51C的双等位基因突变可能导致类似范可尼贫血的功能障碍,揭示了RAD51C基因突变与范可尼贫血之间也有一定关联。

RAD51 C, as one member of DNA damage caused by radiation （rad mutant） repair genes （found from cloned strains of yeast cells sensitive to radiation） codes protein RAD51C. RAD51C is involved in early and late stages of homologous recombination repair after eukaryotic cell DNA double-strand break （DSB） damage, and plays an important role in ensuring the stability and integrity of organism genome in nature by interacting with other repair gene products such as RAD51. Recent studies have indicated that RAD51C mutations increase the risk of breast cancer, and RAD51C may become another important breast cancer susceptibility gene. Some other studies have confirmed that RAD51C is the 14th complementation group gene of Fanconi anemia （FA）, and RAD51C is one important component of the downstream of FA pathway, while biallelic mutation in RAD51C may be leading to FA-like disorder, revealing that there may be a certain relationship between RAD51C mutation and FA.