医学
生殖系
桑格测序
体细胞
发病机制
鉴定(生物学)
血管畸形
种系突变
生物信息学
血管异常
PI3K/AKT/mTOR通路
遗传学
突变
病理
计算生物学
癌症研究
基因
信号转导
生物
外科
植物
作者
Aubrey Rose,Sara Cathey
标识
DOI:10.1016/j.det.2022.07.002
摘要
The identification of the genetic cause of vascular malformations is improving understanding of pathogenesis of these lesions and also informing potential opportunities for treatment. Somatic activating mutations affecting RAS/MAPK and PIK3/AKT/mTor pathways are implicated in all types of vascular malformations. Pathogenic variants associated with vascular lesions may be germline or somatic. Next-generation sequencing technologies allow identification of lower level mosaic mutations than was achievable with standard Sanger sequencing. Best practice strategies to identify underlying genetic mutations in vascular malformations are influenced by the tissues involved and the type of vascular lesion.
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