本研究通过斑马鱼模型揭示DDR（DNA损伤修复）基因（BRCA2/ATM/PALB2）突变通过激活细胞周期检查点促进MYCN驱动型神经母细胞瘤 ...

约 20% 的 EOC 病例与 BRCA1/2 致病性变异相关，众多研究表明携带该变异的患者从 PARP 抑制剂治疗中获益最大。 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 ...

The results showed two heritable genetic mutations in the genes ATM and PALB2 that were morecommon in cancer patients, suggesting a causal link. “The diagnostic yield increased by 20 percent ...

The men had either been tested for germline (166), somatic (280), or both types (four) of genetic variants of BRCA1, BRCA2, ATM, CDK12, and PALB2 genes, with a view to starting them on PARP ...

The drug will slot in alongside other R&D programmes at Merck, investigating inhibitors of DNA damage response that, along with PARP ... cancers with BRCA1/2, PALB2, or RAD51C mutations, in ...

For instance, women with BRCA1/2 mutations may benefit from targeted therapies such as PARP inhibitors ... such as TP53, ...