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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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Hlavní autoři: Renata B. V. Abreu, Ariane S. Pereira, Marcela N. Rosa, Patricia Ashton-Prolla, Viviane A. O. Silva, Matias E. Melendez, Edenir I. Palmero
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Portfolio 2024-07-01
Edice:Scientific Reports
Témata:
TP53
Variants of uncertain significance
Functional analysis
Transcription factor
DNA repair
Li–Fraumeni syndrome
On-line přístup:https://doi.org/10.1038/s41598-024-67810-3
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