Feunteun J
Laboratoire de Génétique Oncologique, CNRS UMR 1599, Institut Gustave Roussy, Villejuif, France.
Mol Med Today. 1998 Jun;4(6):263-7. doi: 10.1016/s1357-4310(98)01262-3.
Germline mutations in either the BRCA1 or the BRCA2 gene are responsible for the majority of hereditary breast cancers. The proposition that BRCA1 might 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, which plays a major role 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 of this monitoring caused by mutations of either of these two genes leaves unrepaired events, leading to the accumulation of mutations and ultimately to cancer. Understanding the precise biochemical function of BRCA1 and BRCA2 should provide a 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能与在修复和/或重组过程中起主要作用的Rad51相互作用。从那时起，大量的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。这两个基因中任何一个发生突变导致这种监测功能的放松，会使未修复事件积累，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有乳腺癌易感性的女性的早期诊断和预防提供依据。
