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首页> 外文期刊>Anticancer Research: International Journal of Cancer Research and Treatment >The Brca1 and Brca2 proteins and tumor pathogenesis.
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The Brca1 and Brca2 proteins and tumor pathogenesis.

机译：Brca1和Brca2蛋白与肿瘤的发病机理。

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摘要

Germline alterations of the BRCA1 or BRCA2 genes result in susceptibility to breast and ovarian cancer. Protein-protein interaction studies, transcription activity and mouse knockout experiments have suggested that the Brca1 and Brca2 proteins are of importance in DNA repair and maintenance of genome integrity, possibly due to the transactivation function of Brca1 or Brca2. Subsequently, tumors in individuals carrying germline mutation in either BRCA1 or BRCA2 gene show instability at chromosomal and gene level. Chromosomal and gene alterations are more pronounced in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic tumors. Furthermore, BRCA1 and BRCA2 mutated breast tumors differ from sporadic tumors in respect to histological phenotype. Typically, a higher grade of malignancy is observed in familial tumors. This review summarizes the putative functions of the Brca1 and Brca2 proteins and pathogenesis in tumors of BRCA1 and BRCA2 mutation carriers.
机译：BRCA1或BRCA2基因的种系改变导致易患乳腺癌和卵巢癌。蛋白质-蛋白质相互作用研究，转录活性和小鼠基因敲除实验表明，Brca1和Brca2蛋白质在DNA修复和基因组完整性维护中很重要，这可能是由于Brca1或Brca2的反式激活功能引起的。随后，携带BRCA1或BRCA2基因种系突变的个体中的肿瘤在染色体和基因水平上显示出不稳定。与散发性肿瘤相比，BRCA1和BRCA2突变携带者的肿瘤中染色体和基因改变更为明显。此外，就组织学表型而言，BRCA1和BRCA2突变的乳腺肿瘤与散发性肿瘤不同。通常，在家族性肿瘤中观察到更高级别的恶性肿瘤。这篇综述总结了Brca1和Brca2蛋白的假定功能以及BRCA1和BRCA2突变携带者肿瘤的发病机理。

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