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Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome

Archive ouverte | Montellier, Emilie | CCSD

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Fine resolution clustering of TP53 variants into functional classes predicts cancer risks and spectra among germline variant carriers

Archive ouverte | Montellier, Emilie | CCSD

ABSTRACT Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to a broad spectrum of cancers caused by pathogenic TP53 germline variants. We have used a clustering approach to assign missense variants to functional classes...

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

Archive ouverte | Penkert, Judith | CCSD

International audience. Abstract 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 child...

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