Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

doi:10.1200/JCO.2014.59.5728

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Article

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 20 Jul 2015

Bougeard Gaëlle, Renaux-Petel Mariette, Flaman Jean-Michel, Charbonnier Camille, Fermey Pierre, Belotti Muriel, Gauthier-Villars Marion, Stoppa-Lyonnet Dominique, Consolino Emilie, Brugières Laurence, Caron Olivier, Benusiglio Patrick R, Bressac-de Paillerets Brigitte, Bonadona Valérie, Bonaïti-Pellié Catherine, Tinat Julie, Baert-Desurmont Stéphanie, Frebourg Thierry

Abstract excerpt

PURPOSE: The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive clinical heterogeneity. PATIENTS AND METHODS: From 1,730 French patients suggestive of LFS, we identified 415 mutation carriers in 214 families harboring 133 distinct TP53 alterations and updated their clinical presentation. RESULTS: The 322 affected carriers...

Topics

Adolescent
Adult
Age of Onset
Female
France
Genetic Testing
Genotype
Germ-Line Mutation
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Li-Fraumeni Syndrome

Male

Phenotype

Sequence Analysis, DNA

Tumor Suppressor Protein p53

Source

Open in PubMed

Identifiers

PMID: 26014290
DOI: 10.1200/JCO.2014.59.5728

Genes

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