BRCA1和BRCA2基因的遗传突变会增加患乳腺癌或卵巢癌的终生风险。BRCA1和BRCA2都参与了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蛋白含有一个70 a a基序的几个拷贝,称为BRC基序,这些基序介导了与在DNA修复中起作用的RAD51重组酶的结合。BRCA2被认为是肿瘤抑制基因,因为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。
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
别名:BRCC2,BROVCA2,FACD,FAD,FAD1,FANCD,FANCD1,GLM3,PNCA2,XRCC11
基因ID:675
Chromosome:
(GRCh37)
13 Start: 32889611 End: 32973805 Strand: 1
疾病: 乳腺癌  癌症 上皮性卵巢癌 HER2受体阴性乳腺癌 卵巢癌  卵巢浆液性癌 胰腺癌  前列腺癌  三受体阴性乳腺癌 
靶向药: Carboplatin Cediranib Cisplatin CX-3543 CX-5461 Gemcitabine Iniparib Mitomycin C 奥拉帕利  PLATINUM Rucaparib  Talazoparib  Veliparib 
BRCA2 基因突变与药物