BARD1 功能丧失导致的缺陷 DNA 双链断裂反应
中文名称
通路描述
尽管 BARD1 的体细胞突变与某些遗传性乳腺癌和卵巢癌（HBOC）有关，但其发生频率低于 BRCA1 或 BRCA2 基因（De Brakeleer et al. 2010, Alenezi et al. 2020）。从动物研究可知，BARD1 功能的丧失会导致与 BRCA1 功能丧失相似的表型，表现为胚胎致死性（McCarthy et al. 2003）、基因组不稳定性（McCarthy et al. 2003）以及同源重组修复缺陷（Lee et al. 2015）。本通路注释了一些功能已鉴定且被证明在 BRCA1 结合中受损的少量临床相关 BARD1 错义突变（Xia et al. 2003, Lee et al. 2015）。
英文描述
Defective DNA double strand break response due to BARD1 loss of function Although germline mutations of BARD1 are implicated in some cases of hereditary breast and ovarian cancer (HBOC), they occur less frequently that those of the BRCA1 or BRCA2 genes (De Brakeleer et al. 2010, Alenezi et al. 2020). From animal studies, it is known that the loss of BARD1 function results in a phenotype very similar to that caused by loss of BRCA1 function, characterized by embryonic lethality (McCarthy et al. 2003), genomic instability (McCarthy et al. 2003) and defects in homology-directed repair (Lee et al. 2015). A small number of clinically-relevant BARD1 missense mutants that have been functionally characterized and shown to be impaired in BRCA1 binding (Xia et al. 2003, Lee et al. 2015) are annotated in this pathway.
所含基因
1 个基因