乳腺癌的遗传易感性是否与BRCA1相关,是一种对基因毒性病变的反应性疾病?

J Feunteun
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引用次数: 0

摘要

BRCA1或BRCA2基因的种系突变是大多数遗传性乳腺癌的原因。BRCA1可能作为基因组看守者的观点首次被提出,因为在有丝分裂和减数分裂细胞中,BRCA1可以与Rad51相互作用,Rad51是修复和/或重组过程的主要参与者。从那时起,大量的观察结果都支持BRCA1和BRCA2在监测和/或修复DNA损伤中发挥作用的概念。由于这两种基因中的任何一种发生突变,这种监测的放松都会导致未修复的事件,并导致突变的积累,最终导致癌症。了解BRCA1和BRCA2基因的准确生化功能,为乳腺癌易感女性的早期诊断和预防提供依据。
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[Is hereditary predisposition to breast cancer linked to BRCA1 a disease of response to genotoxic lesions?].

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.

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