TP53 ( Tumor protein P53) mutation: The TP53 gene is located on human chromosome 17p13.1. Further prospective studies are needed on large cohorts of a homogeneous patient population (for example, IDH-wildtype and O 6-methylguanine DNA methyltransferase ( MGMT) promoter-unmethylated glioma) to independently assess the prognostic impact of TERT promoter mutations. TERT promoter mutations occur more frequently in IDH-wildtype GBM than IDH-mutant GBM (72% vs. The role of TERT promoter mutation as a prognostic factor has not been unequivocally determined due to numerous confounding co-occurring factors (age, surgical intervention, IDH, EGFR mutations, and MGMT methylation status). TERT mutations are present in up to 80% of GBM. These mutations can lead to up to a fourfold increase in TERT expression. The two most common mutations of the TERT promoter are C228T and C250T, located at base pairs 124 and 146, respectively, which encode this promoter. The mutation of the TERT gene promoter results in increased telomerase activity and telomere elongation, suggesting that maintaining the presence of telomeres is essential for brain tumor formation. The TERT gene encodes telomerase, an enzyme responsible for adding the missing 3′ end of a DNA strand during replication. TERT ( Telomerase Reverse Transcriptase) promoter mutation.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |