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Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.

Familial cancer - 22 May 2026

Mirete Beatriz Grau, Arias Asia Ferrández, Payá Paula Rodríguez, Revert María Valero, Garcia David Sánchez, Marín Mariano Martínez, Benítez-Fuentes Javier-David, González Isabel Chirivella, Heras Ana Beatriz Sánchez

Abstract excerpt

Germline TP53 pathogenic or likely pathogenic variants underlie Li-Fraumeni syndrome (LFS), but with broader use of multigene panel (MGP) testing, carriers are increasingly identified outside classic criteria. We retrospectively studied 36 carriers from 18 families evaluated at two Spanish hereditary cancer units (2005-2023). Clinical data were obtained from medical records, and variants were functionally...

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Share to Genetic Counseling
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42171906
DOI: 10.1007/s10689-026-00571-2

Genes

MGP
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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