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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Principais autores:	Renata B. V. Abreu, Ariane S. Pereira, Marcela N. Rosa, Patricia Ashton-Prolla, Viviane A. O. Silva, Matias E. Melendez, Edenir I. Palmero
Formato:	Artigo
Idioma:	Inglês
Publicado:	Nature Portfolio 2024-07-01
Series:	Scientific Reports
Assuntos:	TP53 Variants of uncertain significance Functional analysis Transcription factor DNA repair Li–Fraumeni syndrome
Acceso en liña:	https://doi.org/10.1038/s41598-024-67810-3
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