Article

Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni Syndrome

2025-02-27

Abstract excerpt

We identified a germline TP53 c.758C>T (p.T253I) mutation in the TP53 tumor suppressor gene in a pediatric adrenocortical carcinoma (ACC) patient. Characteristic to pathogenic p53 mutations, we observed upregulation of total p53 protein levels in the patient’s ACC and concurrent suppression of the wild-type (WT) TP53 allele. As ACC can be associated with Li-Fraumeni Syndrome (LFS) and the mutation has not yet been...

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Literature Corpus work: 5f75ac9a-8190-51b4-b9e4-560c86172a0c
DOI: 10.1101/2025.02.26.25322616

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