<i>TP53</i> Splice Mutations Have Tumour-Independent Effects on Genomic Stability and Prognosis: An In Silico Study.

ABSTRACT: The tumour suppressor TP53 (tumor protein p53) is a master regulator of cell cycle, DNA repair, and apoptosis, and its mutation is a hallmark of cancer, with individual mutations exerting distinct effects on tumour biology. Despite accounting for ~7% of all TP53 variants, splice site mutations remain the least studied class, and their functional and clinical consequences are poorly understood. We analyzed 25,058 TP53 variants (18,562 somatic; 6496 germline) to characterize the frequency, molecular impact, transcriptional effects, genomic instability, and clinical outcomes of splice mutations. These alterations showed distinct distributions and substitution patterns between germline and somatic contexts and were frequently associated with copy number alterations, reduce

SUBMITTER: Bhandarkar AA 

PROVIDER: S-EPMC12732612 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature