作者: Marikki Laiho
DOI: 10.1007/978-1-59745-200-7_5
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摘要: Mutations in gene products controlling DNA damage checkpoints and repair pathways cause predisposition to a large number of sporadic cancers, hereditary cancer syndromes, developmental defects. This underscores the vital need for fidelity checkpoint control efficiency machineries. The functions are ensured by multiple, often parallel, show specificity regarding nature damage, cell-cycle phase, subsequent cellular response. mechanisms also link other responses such as apoptosis initiate death program event unsuccesful repair. It is striking that several mutations associated with abnormalities Nijmegen breakage syndrome Fanconi anemia, indicating maintenance genome integrity essential throughout development. Though critical proteins have been identified their links tumor progression established, alterations known checkpoint-associated (e.g., 53BP1, Mdc1, SMC1) still undiscovered. Knowledge sensing instigating will pave way improved diagnostics, identification genetic susceptibility, and, future, rational therapy cancer.