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Article

Cancer risk in carriers of TP53 germline variants grouped into different functional categories.

JNCI cancer spectrum - 3 Jan 2025

Müntnich Lucas John, Dutzmann Christina M, Großhennig Anika, Härter Valentina, Keymling Myriam, Mastronuzzi Angela, Montellier Emilie, Nees Juliane, Palmaers Natalie E, Penkert Judith, Pfister Stefan M, Ripperger Tim, Schott Sarah, Silchmüller Farina, Hainaut Pierre, Kratz Christian P

Abstract excerpt

Li-Fraumeni syndrome is a cancer predisposition syndrome caused by pathogenic TP53 germline variants; it is associated with a high lifelong cancer risk. We analyzed the German Li-Fraumeni syndrome registry, which contains data on 304 individuals. Cancer phenotypes were correlated with variants grouped according to their ability to transactivate target genes in a yeast assay using a traditional (nonfunctional,...

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Identifiers

PMID: 39873732
DOI: 10.1093/jncics/pkaf008
PMCID: PMC11879075

Genes

TP53

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