Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

doi:10.1136/jmedgenet-2017-104976

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Article

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

Journal of medical genetics - 1 Mar 2018

Renaux-Petel Mariette, Charbonnier Françoise, Théry Jean-Christophe, Fermey Pierre, Lienard Gwendoline, Bou Jacqueline, Coutant Sophie, Vezain Myriam, Kasper Edwige, Fourneaux Steeve, Manase Sandrine, Blanluet Maud, Leheup Bruno, Mansuy Ludovic, Champigneulle Jacqueline, Chappé Céline, Longy Michel, Sévenet Nicolas, Paillerets Brigitte Bressac-de, Guerrini-Rousseau Léa, Brugières Laurence, Caron Olivier, Sabourin Jean-Christophe, Tournier Isabelle, Baert-Desurmont Stéphanie, Frébourg Thierry, Bougeard Gaëlle

Abstract excerpt

BACKGROUND: Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial history, highly suggestive of a germline TP53 mutation. The aim of this study was to determine the contribution of de novo and mosaic mutations to LFS. METHODS AND...

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PMID: 29070607
DOI: 10.1136/jmedgenet-2017-104976

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