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

Nathaniel C. Holcomb; Amanda M. Harrington; Hong Pu; Berina Halilovic; Nathan R. Shelman; Shulin Zhang; Catherine Sears; Terra Armstrong; Brent Shelton; Lauren Corum; John A. D'Orazio

doi:10.1371/journal.pone.0320036

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Open Access

Peer-reviewed

Research Article

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

Nathaniel C. Holcomb,

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing

Affiliation The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Amanda M. Harrington,

Roles Conceptualization, Formal analysis, Writing – original draft, Writing – review & editing

Affiliations The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America, Department of Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Hong Pu,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation

Affiliation The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Berina Halilovic,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation

Affiliation The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Nathan R. Shelman,

Roles Formal analysis, Methodology, Writing – review & editing

Affiliations The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America, Department of Pathology, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Shulin Zhang,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation

Affiliations The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America, Department of Pathology, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Catherine Sears,

Roles Data curation, Investigation, Methodology, Validation

Affiliations The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America, Department of Pathology, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Terra Armstrong,

Roles Formal analysis, Resources

Affiliation The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Brent Shelton,

Roles Formal analysis, Writing – review & editing

Affiliations The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America, Department of Cancer Biostatistics, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
Lauren Corum,

Roles Formal analysis

Affiliations The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America, Department of Cancer Biostatistics, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America
⨯
John A. D'Orazio

Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

* E-mail: jdorazio@uky.edu

Affiliations The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America, Department of Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky, United States of America

https://orcid.org/0000-0003-1008-6234

⨯

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

Nathaniel C. Holcomb,
Amanda M. Harrington,
Hong Pu,
Berina Halilovic,
Nathan R. Shelman,
Shulin Zhang,
Catherine Sears,
Terra Armstrong,
Brent Shelton,
Lauren Corum

Published: December 5, 2025
https://doi.org/10.1371/journal.pone.0320036

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