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...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Scientific Reports
المؤلفون الرئيسيون:	Renata B. V. Abreu, Ariane S. Pereira, Marcela N. Rosa, Patricia Ashton-Prolla, Viviane A. O. Silva, Matias E. Melendez, Edenir I. Palmero
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Nature Portfolio 2024-07-01
الموضوعات:	TP53 Variants of uncertain significance Functional analysis Transcription factor DNA repair Li–Fraumeni syndrome
الوصول للمادة أونلاين:	https://doi.org/10.1038/s41598-024-67810-3

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