The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers.
The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers.
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DOI：
10.2741/4230
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发表时间：
2014-01-01
期刊：
影响因子：
--
通讯作者：
Paul S
中科院分区：
文献类型：
--
作者：
Paul A;Paul S
乳腺癌易感基因BRCA 1和BRCA 2是基因组完整性的动态调节因子。这些基因的遗传突变与包括乳腺和卵巢在内的多个器官的癌症发展有关。BRCA 1/2基因突变大大增加了患乳腺癌和卵巢癌的终生风险，这些突变经常在遗传性乳腺癌和卵巢癌中观察到。此外，BRCA 1/2蛋白的失调和表达改变增强了散发性乳腺癌。特别是，这两个基因有助于DNA修复和转录调节，以响应DNA损伤。因此，BRCA 1/2功能的缺陷导致遗传改变的积累，并最终影响癌症的发展。自BRCA 1和BRCA 2的鉴定以来的研究为它们的肿瘤抑制活性提供了强有力的证据，特别是对乳腺癌和卵巢癌，本文旨在审查目前关于BRCAs和相关癌症风险的知识状态。
The Breast Cancer Susceptibility Genes, BRCA1 and BRCA2, are the dynamic regulators of genomic integrity. Inherited mutations in these genes are associated with the development of cancer in multiple organs including the breast and ovary. Mutations of BRCA1/2 genes greatly increase lifetime risk to develop breast and ovarian cancer and these mutations are frequently observed in hereditary breast and ovarian cancers. In addition, misregulation and altered expressions of BRCA1/2 proteins potentiate sporadic forms of breast cancer. In particular, both genes contribute to DNA repair and transcriptional regulation in response to DNA damage. Thus, deficiencies of BRCA1/2 functions lead to the accumulation of genetic alterations and ultimately influence the development of cancer. Studies since identification of both BRCA1 and BRCA2 have provided strong evidences for their tumor suppressor activities specifically for breast and ovarian cancer and this article aims to review the current state of knowledge regarding the BRCAs and associated cancer risk.
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