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Article

Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome.

Familial cancer - 1 Nov 2024

Freycon Claire, Palma Laura, Budd Crystal, Coulombe Frederic, Witkowski Leora, Hainaut Pierre, Foulkes William D, Goudie Catherine

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with germline pathogenic/likely pathogenic variants in TP53. Genotype-phenotype correlations are progressively being characterized in LFS with certain TP53 variants associated with attenuated penetrance and phenotypes. We report on a family harboring a TP53 p.R181H variant presenting with a restricted cancer phenotype in adulthood. The...

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Identifiers

PMID: 39261343
DOI: 10.1007/s10689-024-00419-7

Genes

TP53

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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