Article

Tumor Patterns and Cancer Risk in Carriers of <i>TP53</i> exonic Germline Variants that alter mRNA Splicing

2025-09-27

Abstract excerpt

Pathogenic germline variants in the TP53 gene cause Li-Fraumeni syndrome (LFS), a highly penetrant cancer predisposition disorder. Most of these variants arise from single-nucleotide variations (SNVs) in TP53 exons, causing missense mutations. However, some of these SNVs may also alter mRNA splicing, defining spliceogenic single nucleotide variants (SE-SNVs) of uncertain clinical significance. We reassessed previo...

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Literature Corpus work: 93340a16-7500-5ef1-91b1-f7ac4b565f80
DOI: 10.1101/2025.09.22.25336167

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