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Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

16 Aug 2022

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with...

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PMID: 35974385
DOI: 10.1186/s13045-022-01332-1

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