Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriersResearch in context

Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriersResearch in context

Summary: Background: Li-Fraumeni Syndrome (LFS) is a predisposition associated with early onset malignant tumors caused by germline pathogenic variants in the TP53 gene. Although rare worldwide, LFS is prevalent in Southern Brazil due to the founder pathogenic variant R337H. Here, we assessed tumor...

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Main Authors: Pedro A.F. Galante, Gabriela D.A. Guardia, Janina Pisani, Renata L. Sandoval, Mateus C. Barros-Filho, Ana Carolina Leite Vieira Costa Gifoni, Diogo F.C. Patrão, Patricia Ashton-Prolla, Vitor Fiorin de Vasconcellos, Claire Freycon, Arnold Levine, Pierre Hainaut, Maria Isabel Achatz
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:The Lancet Regional Health. Americas
Subjects:
Li-Fraumeni syndrome
R337H variant
TP53
Germline
Online Access:http://www.sciencedirect.com/science/article/pii/S2667193X24003090
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