Thacker John
Medical Research Council, Radiation and Genome Stability Unit, Harwell, Oxfordshire OX11 0RD, UK.
Cancer Lett. 2005 Mar 10;219(2):125-35. doi: 10.1016/j.canlet.2004.08.018.
Inefficient repair or mis-repair of DNA damage can cause genetic instability, and defects in some DNA repair genes are associated with rare human cancer-prone disorders. In the last few years, homologous recombination has been found to be a key pathway in human cells for the repair of severe DNA damage such as double-strand breaks. The RAD51 family of genes, including RAD51 and the five RAD51-like genes (XRCC2, XRCC3, RAD51L1, RAD51L2, RAD51L3) are known to have crucial non-redundant roles in this pathway. Current knowledge of the functions of the RAD51 gene family is reviewed, as well as the evidence for extensive genetic instability arising from loss of their activity. Reports of potential associations between variants of RAD51 family genes and specific forms of cancer are summarized, but it is seen that many of these studies have relatively low statistical power. As yet these data provide only tantalizing suggestions of modified cancer risks arising from polymorphisms, mutations, or changes in expression of the RAD51 gene family, and there is still a lot to learn before firm conclusions can be made.
DNA损伤修复效率低下或错误修复会导致基因不稳定,一些DNA修复基因的缺陷与罕见的人类易患癌疾病有关。在过去几年中,同源重组已被发现是人类细胞中修复严重DNA损伤(如双链断裂)的关键途径。已知包括RAD51和五个RAD51样基因(XRCC2、XRCC3、RAD51L1、RAD51L2、RAD51L3)在内的RAD51基因家族在该途径中具有至关重要的非冗余作用。本文综述了RAD51基因家族功能的现有知识,以及因它们的活性丧失而导致广泛基因不稳定的证据。总结了RAD51家族基因变体与特定癌症形式之间潜在关联的报告,但可以看出,这些研究中的许多研究统计效力相对较低。到目前为止,这些数据仅提供了关于RAD51基因家族多态性、突变或表达变化导致癌症风险改变的诱人线索,在得出确凿结论之前,仍有许多需要了解的地方。