WebJun 15, 2024 · Abstract. Tuberous sclerosis proteins 1 and 2 (TSC1 and TSC2) are tumor suppressor genes and inhibitors of the mammalian target of rapamycin (mTOR) pathway. Mutations in these genes are candidates for novel mTOR inhibitors, such as nanoparticle albumin-bound (nab)-sirolimus, which have already demonstrated clinical efficacy in … WebMay 15, 2016 · In this cohort of mRCC patients, mutations in MTOR, TSC1, or TSC2 were more common in patients who experienced clinical benefit from rapalogs than in those who progressed. However, a substantial fraction of responders (24 of 43, 56%) had no mTOR pathway mutation identified. Clin Cancer Res; 22(10); …
Mutation profiling of TSC1 and TSC2 genes in solid tumors using comprehensive NGS panel. Journal of Clinical Oncology
WebGenetic testing of TSC1 and TSC2 is important for the diagnosis of tuberous sclerosis complex (TSC), an autosomal dominant neurocutaneous disease. This study … WebThe ratio of TSC2:TSC1 mutations was 3.4:1. In our cohort, both TSC1 mutations and mutations in familial TSC2 cases were associated with phenotypes less severe than de … how to show someone they are appreciated
Tuberous sclerosis complex: MedlinePlus Genetics
WebApr 11, 2024 · Two major molecular subgroups have recently been identified for PEComas: those with TSC1 or TSC2 alterations and those with TFE3 fusions [3, 4, 18]. Interestingly, … WebTSC1 (tuberous sclerosis 1) is a gene that encodes for a protein, hamartin, that interacts with a protein encoded by the TSC2 gene, tuberin (Genetics Home Reference 2013).TSC1 acts as a tumor suppressor, through regulation of the mTOR pathway, which is involved in cell proliferation (Genetics Home Reference 2013; PMID: 21533174).Mutations in TSC1 … WebTwo thirds of cases are sporadic and are thought to represent new mutations. TSC is caused by mutations affecting either of the presumed tumor-suppressor genes, TSC1 and … nottoway la weather forecast