To identify TERT-PM and TERT-RA, tumors were profiled by the Memorial Sloan Kettering Cancer Center-Integrated Mutation Profiling of Actionable Cancer Targets targeted next-generation sequencing ...
Cancer-specific hTERT promoter mutations reported in 19% of cancers result in enhanced telomerase activity. Understanding the distinctions between transcriptional regulation of wild-type (WT) and ...
In this study, researchers analyzed large ASD whole genome sequencing data and found that promoter de novo mutations in TADs containing ASD genes were specifically associated with the disease.