Feunteun J
Laboratoire de Génétique oncologique, CNRS UMR #1599, Institut Gustave-Roussy, Villejuif.
C R Seances Soc Biol Fil. 1998;192(2):235-40.
Germline mutations in either the BRCA1 or the BRCA2 gene are responsible for the majority of hereditary breast cancers. The proposition that BRCA1 may play a role as a caretaker of the genome, was first put forward by the demonstration that, in mitotic and meiotic cells, BRCA1 can interact with Rad51, a major actor in repair and/or recombination processes. From there, a fair body of observations have converged to support the concept that BRCA1 and BRCA2 play a role in monitoring and/or repairing DNA lesions. The relaxation in this monitoring, due to mutations of either of these two genes, leaves unrepaired events and leads to the accumulation of mutations and ultimately to cancer. Understanding the precise biochemical function of BRCA1 and BRCA2 should provide basis for early diagnosis and prevention in women carrying a predisposition to breast cancer.
BRCA1基因或BRCA2基因中的种系突变是大多数遗传性乳腺癌的病因。BRCA1可能作为基因组守护者发挥作用这一观点，最初是通过以下证明提出的：在有丝分裂和减数分裂细胞中，BRCA1能与Rad51相互作用，Rad51是修复和/或重组过程中的主要参与者。从那时起，大量观察结果汇聚在一起，支持了BRCA1和BRCA2在监测和/或修复DNA损伤中发挥作用的概念。由于这两个基因中任何一个发生突变而导致这种监测功能的放松，会使未修复的事件发生，导致突变积累并最终引发癌症。了解BRCA1和BRCA2的确切生化功能，应为易患乳腺癌的女性提供早期诊断和预防的依据。
