G
Gaëlle Bougeard
Researcher at French Institute of Health and Medical Research
Publications - 47
Citations - 2735
Gaëlle Bougeard is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Germline mutation & Li–Fraumeni syndrome. The author has an hindex of 21, co-authored 42 publications receiving 2340 citations. Previous affiliations of Gaëlle Bougeard include University of Rouen & University of Michigan.
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Journal ArticleDOI
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
Gaëlle Bougeard,Mariette Renaux-Petel,Jean-Michel Flaman,Camille Charbonnier,Pierre Fermey,Muriel Belotti,Marion Gauthier-Villars,Dominique Stoppa-Lyonnet,Emilie Consolino,Laurence Brugières,Olivier Caron,Patrick R. Benusiglio,Brigitte Bressac-de Paillerets,Valérie Bonadona,Catherine Bonaïti-Pellié,Julie Tinat,Stéphanie Baert-Desurmont,Thierry Frebourg +17 more
TL;DR: The clinical gradient of the germline TP53 mutations, which should be validated by other studies, suggests that it might be appropriate to stratify the clinical management of LFS according to the class of the mutation.
Journal ArticleDOI
2009 version of the Chompret criteria for Li Fraumeni syndrome.
Julie Tinat,Gaëlle Bougeard,Stéphanie Baert-Desurmont,Stéphanie Vasseur,Cosette Martin,Emilie Bouvignies,Olivier Caron,Brigitte Bressac-de Paillerets,Pascaline Berthet,Catherine Dugast,Catherine Bonaïti-Pellié,Dominique Stoppa-Lyonnet,Thierry Frebourg +12 more
TL;DR: In 474 Frenchfamiliessuggestive familiesful of LFS, the Chompret criteria was applied, obtaining a mutation detection rate of 29% and estimated the sensitivity and sensitivity of the criteria to be 82% and 58%, respectively.
Journal ArticleDOI
Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
Gaëlle Bougeard,Stéphanie Baert-Desurmont,Isabelle Tournier,Stéphanie Vasseur,Cosette Martin,Laurence Brugières,Agnès Chompret,Brigitte Bressac-de Paillerets,Dominique Stoppa-Lyonnet,Catherine Bonaïti-Pellié,Thierry Frebourg +10 more
TL;DR: The results confirm the impact of the MDM2 SNP309 G allele on the age of tumour onset in germline p53 mutation carriers, and suggest that this effect may be amplified by the p53 72Arg allele.
Journal ArticleDOI
Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families
Gaëlle Bougeard,Richard Sesboüé,Stéphanie Baert-Desurmont,Stéphanie Vasseur,Cosette Martin,Julie Tinat,Laurence Brugières,Agnès Chompret,Brigitte Bressac-de Paillerets,Dominique Stoppa-Lyonnet,Catherine Bonaïti-Pellié,Thierry Frebourg +11 more
TL;DR: In this article, an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria, was performed.
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families
Gaëlle Bougeard,Richard Sesboüé,S. Desurmont,Pascaline Berthet,Valérie Bonadona,Bruno Buecher,Olivier Caron,Chrystelle Colas,M-A. Collonge-Rame,Capucine Delnatte,Catherine Dugast,J.-P. Fricker,Marion Gauthier-Villars,Paul Gesta,Philippe Jonveaux,Christine Lasset,Bruno Leheup,Michel Longy,C. Nogue +18 more
TL;DR: Germline alterations of TP53 that lead exclusively to loss of function are associated with a later age of tumour onset and the presence of such mutations should be considered in atypical LFS families with tumours diagnosed after 40 years.