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Article

Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.

European journal of human genetics : EJHG - 1 Aug 2026

Schönegger Deborah, Montellier Emilie, Blanchet Sandrine, Freycon Claire, Monti Paola, Goudie Catherine, Bougeard Gaëlle, Kratz Christian P, Hainaut Pierre, Reymer Anna

Abstract excerpt

Abnormal RNA splicing is an underrecognized driver of pathogenicity in germline TP53 - the cause of Li-Fraumeni syndrome (LFS). We re-evaluated exonic single-nucleotide variants (SNVs) that yield missense or synonymous changes for spliceogenic effects by integrating SpliceAI prediction, in-vitro minigene assays, and analysis of tumor RNA-seq from TCGA, and assessed genotype-phenotype correlations using clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41776348
DOI: 10.1038/s41431-026-02061-6
PMCID: PMC13424335

Genes

TP53

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.PMID 41776348Read ↗

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