Article

Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni syndrome in an infant with adrenal cortical carcinoma

2024-08-26

Abstract excerpt

An 8-month-old patient was found to have an adrenal cortical carcinoma (ACC) characterized by a TP53 c.758C>T (p.T253I) mutation in the TP53 tumor suppressor gene. p53 protein levels were overexpressed in the patient’s ACC, and molecular profiling of the tumor suggested suppression of the remaining wild-type (WT) TP53 allele. As this type of malignancy has been reported to occur in Li-Fraumeni Syndrome (LFS) pa...

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Literature Corpus work: 955c12d6-bd01-53a6-b72b-16a0e96fc0a8
DOI: 10.22541/au.172464014.45079559/v1

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