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Somatic evolution in Li-Fraumeni Syndrome
Somatic evolution in Li-Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition disorder associated with germline mutations in the TP53 tumor suppressor gene. The p53 mutation spectrum associated with LFS is similar to that found in somatic tumors, with most of them, such as the G245S mutation, occurring in the DN...
ORGANISM(S): Homo sapiens (Human) 
2026-06-29 | PXD025056 | Pride
Li-Fraumeni Associated Pheochromocytoma
Li-Fraumeni Associated Pheochromocytoma
Li-Fraumeni syndrome (LFS) is a rare, clinically and genetically heterogeneous inherited cancer syndrome. Most cases are due to mutations in TP53. CHK2 is a minor predisposing locus; we recently mapped a third locus to 1q23. In both TP53 and non-TP53 LFS, there is evidence for risk heterogeneity ...
ORGANISM(S): Homo sapiens 
Germline Hemizygous Deletion of CDKN2A-CDKN2B Locus in a Patient Presenting with Li-Fraumeni Syndrome
Specific changes in gene expression during cancer initiation should enable discovery of biomarkers for risk assessment, early detection and targets for chemoprevention. It has been previously demonstrated that altered mRNA and proteome signatures of morphologically normal cells bearing a single inhe...
ORGANISM(S): Homo sapiens 
TP53 c.1000G>C p.G334R is an Ashkenazi Jewish predominant mutation associated with a low penetrance Li-Fraumeni Syndrome
Genomics
Li-Fraumeni syndrome in Tunisian patients
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