Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome

Abstract Germline TP53 pathogenic variants can lead to a cancer susceptibility syndrome known as Li–Fraumeni (LFS). Variants affecting its activity can drive tumorigenesis altering p53 pathways and their identification is crucial for assessing individual risk. This study explored the functional impa...

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Bibliographic Details

Published in:	Scientific Reports
Main Authors:	Renata B. V. Abreu, Ariane S. Pereira, Marcela N. Rosa, Patricia Ashton-Prolla, Viviane A. O. Silva, Matias E. Melendez, Edenir I. Palmero
Format:	Article
Language:	English
Published:	Nature Portfolio 2024-07-01
Subjects:	TP53 Variants of uncertain significance Functional analysis Transcription factor DNA repair Li–Fraumeni syndrome
Online Access:	https://doi.org/10.1038/s41598-024-67810-3