BRCA1和BRCA2基因的遺傳突變會增加患乳腺癌或卵巢癌的終生風險。BRCA1和BRCA2都參與了基因組穩定性的維持,特別是雙鏈DNA修復的同源重組途徑。BRCA2蛋白含有一個70 a a基序的幾個拷貝,稱為BRC基序,這些基序介導了與在DNA修復中起作用的RAD51重組酶的結合。BRCA2被認為是腫瘤抑制基因,因為BRCA2突變的腫瘤通常表現出野生型等位基因的雜合性(LOH)缺失。
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.

基因名:BRCA2
別名:BRCC2,BROVCA2,FACD,FAD,FAD1,FANCD,FANCD1,GLM3,PNCA2,XRCC11
基因ID:675
Chromosome:
(GRCh37)
13 Start: 32889611 End: 32973805 Strand: 1
信號通路: 基因組不穩定  遺傳相關 
靶向藥: 西地尼布  CX-3543 CX-5461  Iniparib  絲裂霉素C  奧拉帕利  PLATINUM 盧卡帕尼,魯卡帕尼  他拉唑帕尼  維利帕尼 
化療藥: 卡鉑 順鉑 吉西他濱 
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