BRCA2 —— BRCA2 DNA修复相关

BRCA2

BRCA2 DNA修复相关

BRCA2 DNA repair associated

BRCA1和该基因BRCA2的遗传突变赋予罹患乳腺癌或卵巢癌的终生风险增加。BRCA1和BRCA2都参与基因组稳定性的维持，特别是双链DNA修复的同源重组途径。BRCA2蛋白包含称为BRC主题的70个氨基酸基序的几个副本，这些基序介导与RAD51重组酶（在DNA修复中起作用）的结合。BRCA2被认为是抑癌基因，因为具有BRCA2突变的肿瘤通常表现出野生型等位基因的杂合性（LOH）缺失。[由RefSeq提供，2008年12月]

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]