TSC1 LOSS-OF-FUNCTION

在膀胱癌的一个小队列研究中,TSC1突变患者对MTOR抑制剂依维莫司有更好的反应,并增加了治疗持续时间的耐受性。此外,具有tsc1或tsc2突变的患者源性膀胱癌细胞系比tsc1/tsc2野生型细胞对依维莫司治疗更敏感。
In a small cohort study of bladder cancer, patients with TSC1 mutations showed better responses to and increased treatment duration tolerance with the mTOR inhibitor everolimus. Additionally, patient-derived bladder cancer cell lines with TSC1 or TSC2 mutations are much more sensitive to everolimus treatment than TSC1/TSC2 wildtype cells.

别名


Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
9135766735135820008
Transcript
ENST00000298552.3

基因序列