Identification of a TP53 Mutation in a Patient With Li-Fraumeni Syndrome and Not Meeting the Revised Chompret Criteria: A Case Report

Li-Fraumeni syndrome (LFS) is a rare familial disorder caused by germline TP53 mutations. Despite the establishment of the revised Chompret criteria to guide genetic testing for TP53, identifying LFS in patients who do not satisfy these criteria remains a challenge. Herein, we present the case of a...

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Detalles Bibliográficos
Autores principales: Iwasaki, Monika, So, Clara, Jinta, Torahiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10323706/
https://www.ncbi.nlm.nih.gov/pubmed/37425585
http://dx.doi.org/10.7759/cureus.40025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10323706/
https://www.ncbi.nlm.nih.gov/pubmed/37425585
http://dx.doi.org/10.7759/cureus.40025

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