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Article

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

Genome medicine - 14 Jan 2025

Rofes Paula, Castillo-Manzano Carmen, Menéndez Mireia, Teulé Álex, Iglesias Sílvia, Munté Elisabet, Ramos-Muntada Mireia, Gómez Carolina, Tornero Eva, Darder Esther, Montes Eva, Valle Laura, Capellá Gabriel, Pineda Marta, Brunet Joan, Feliubadaló Lidia, Del Valle Jesús, Lázaro Conxi

Abstract excerpt

BACKGROUND: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39810221
DOI: 10.1186/s13073-025-01429-5
PMCID: PMC11734529

Genes

TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 10 Sept 2026.

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