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

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

Summary: Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to an individually variable spectrum of cancers caused by pathogenic TP53 germline variants. We used a clustering method to assign TP53 missense variants to classes based on their functional activities in experimental assays asses...

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Bibliographic Details
Main Authors: Emilie Montellier, Nathanaël Lemonnier, Judith Penkert, Claire Freycon, Sandrine Blanchet, Amina Amadou, Florent Chuffart, Nicholas W. Fischer, Maria-Isabel Achatz, Arnold J. Levine, Catherine Goudie, David Malkin, Gaëlle Bougeard, Christian P. Kratz, Pierre Hainaut
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:iScience
Subjects:
Genomics
Phenotyping
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004224025215
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http://www.sciencedirect.com/science/article/pii/S2589004224025215

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