Karran P
Clare Hall Laboratories, Imperial Cancer Research Fund, South Mimms, EN6 3LD, UK.
Curr Opin Genet Dev. 2000 Apr;10(2):144-50. doi: 10.1016/s0959-437x(00)00069-1.
Human cells can process DNA double-strand breaks (DSBs) by either homology directed or non-homologous repair pathways. Defects in components of DSB repair pathways are associated with a predisposition to cancer. The products of the BRCA1 and BRCA2 genes, which normally confer protection against breast cancer, are involved in homology-directed DSB repair. Defects in another homology-directed pathway, single-strand annealing, are associated with genome instability and cancer predisposition in the Nijmegen breakage syndrome and a radiation-sensitive ataxia-telangiectasia-like syndrome. Many DSB repair proteins also participate in the signaling pathways which underlie the cell's response to DSBs.
人类细胞可通过同源定向或非同源修复途径处理DNA双链断裂（DSB）。DSB修复途径中各成分的缺陷与患癌倾向相关。通常赋予乳腺癌防护能力的BRCA1和BRCA2基因产物参与同源定向DSB修复。另一种同源定向途径——单链退火的缺陷与尼曼匹克氏断裂综合征和一种辐射敏感型共济失调毛细血管扩张样综合征中的基因组不稳定及癌症易感性相关。许多DSB修复蛋白也参与构成细胞对DSB反应基础的信号通路。
