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Article

Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements.

Molecular carcinogenesis - 1 Oct 2009

Kouidou Sofia, Malousi Andigoni, Maglaveras Nicos

Abstract excerpt

Mutations in codon 133 of p53, which cause the loss of the Delta 133 isoform(s) expression, are very frequent in the Li-Fraumeni (LF) and Li-Fraumeni-like (LFL) syndromes. In sporadic cancers, silent p53 mutations are correlated with exonic splicing enhancers (ESEs) and exonic methylated sites. The present study shows that mutations in splice sites are also very frequent in LF/LFL syndromes, while missense...

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Identifiers

PMID: 19367569
DOI: 10.1002/mc.20537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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