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

3 Jan 2025

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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PMID: 39873732
DOI: 10.1093/jncics/pkaf008

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