Several gene faults or genetic conditions can increase ovarian cancer risk. This includes a fault in the: BRCA 1 or BRCA 2 gene RAD51C or RAD51D gene BRIP1 gene PALB2 gene Having one of these faulty ...
About 10% to 20% of all people with triple negative breast cancer test positive for a BRCA1 or BRCA2 gene mutation. Some studies, however, have linked other gene mutations to this cancer, including ...
The exact cause or causes of triple-negative breast cancer are unknown, but researchers have linked it to mutations in the BRCA1 and BRCA2 genes. They also have been able to identify certain risk ...
This includes PALB2, RAD51B, RAD51C, RAD51D, RAD54L, and BRIP1 (none of these genes have EMA approval). Switching to PARP inhibitor combination therapy, there is preclinical rationale for a combined ...
为探究胰腺癌(PAAD)种系突变情况,研究人员分析中国患者样本,揭示突变图谱及 CFTR 基因作用,意义重大。 攻克胰腺癌的新曙光:中国患者种系变异研究成果解读 胰腺癌(Pancreatic Adenocarcinoma,PAAD)是一种极其致命的癌症,在全球范围内,其发病率呈上升 ...
HRR 相关基因除 BRCA1/2 外的致病性变异:15 篇(27%)研究关注了除 BRCA1/2 外的 HRR 相关基因致病性变异。虽然部分基因(如 RAD51C、RAD51D、PALB2)的致病性变异与 PARP 抑制剂疗效相关,但其他基因的预测作用尚未明确。同时,使用不同 HRR 相关基因面板检测 HRD ...
2. 关键基因的发现与功能验证: 研究确定了CFTR、BRCA1、BRCA2、RAD51C、RAD51D、FANCM和MSH6等基因的种系突变与染色体杂合性缺失(LOH)事件相关。
例如,2020年POLO III研究中非裔美国人的种系BRCA突变率最高(13.8%)。 2. 关键基因的发现与功能验证: 研究确定了CFTR、BRCA1、BRCA2、RAD51C、RAD51D、FANCM和MSH6等基因的种系突变与染色体杂合性缺失(LOH)事件相关。其中,CFTR基因的致病性种系突变在PAAD相关亚洲患者 ...