【 不久前，48岁的欧女士因“消化不良”到医院就诊，经检查确诊为卵巢癌，且已经全腹扩散，并转移至锁骨上淋巴结，属于晚期，而她的姐姐也是因为卵巢癌于两年前去世。为什么姐妹俩都难逃卵巢癌“魔咒”呢？欧女士的基因检测结果给出了答案——BRCA1胚系突变。】 ...

After chemo Christine gained 'compassionate access' to another drug which should keep her cancer, caused by the Rad51C gene ...

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 ...

Background Low-impact genetic variants identified in population-based genetic studies are not routinely measured as part of clinical genetic testing in familial breast cancer (BC). We studied the ...

After chemo Christine gained 'compassionate access' to another drug which should keep her cancer, caused by the Rad51C gene at bay. The drug usually costs $11,000 a week and unlike drugs for the ...

*During data validation and verification for the manuscript, one patient that was originally reported as having a response in the 2021 AACR Annual Meeting presentation of this cohort was found instead ...

Figure 1: Physical map of the critical MUL region. We isolated total RNA from lymphoblastoid cells of four MUL patients, one MUL carrier and one control individual using the RNeasy RNA extraction ...

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 ...

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。

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 ...