Gaëlle Bougeard

Publications

Article dans une revue (49)

Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing Deborah Schönegger,Emilie Montellier,Sandrine Blanchet,Claire Freycon,Paola Montiet al. European Journal of Human Genetics, 2026, ⟨10.1038/s41431-026-02061-6⟩ Article dans une revue hal-05537239v1
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome Emilie Montellier,Olivier Manches,Jonathan Gaucher,Claire Freycon,David Hoyoset al. EBioMedicine, 2026, 123, pp.106065. ⟨10.1016/j.ebiom.2025.106065⟩ Article dans une revue hal-05430020v1
Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes Jack Brzezinski,Kerri Becktell,Gaëlle Bougeard,Garrett Brodeur,Lisa Dilleret al. Clinical Cancer Research, 2025, 31 (1), pp.18-24. ⟨10.1158/1078-0432.CCR-24-2488⟩ Article dans une revue hal-04988996v1
Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript Jeanne Louis,Marion Rolain,Corentin Levacher,Karen Baudry,Pascal Pujolet al. Journal of Medical Genetics, 2025, 62 (3), pp.160-168. ⟨10.1136/jmg-2024-110449⟩ Article dans une revue hal-04988920v1
Bone sarcomas and cancer predisposition syndromes Camille Tlemsani,Gaëlle Bougeard,Marion Gauthier-Villars,Philippe Denizeau,Sarah Winteret al. Bulletin du Cancer, 2025, 112 (6), pp.664-680. ⟨10.1016/j.bulcan.2024.10.014⟩ Article dans une revue hal-04988906v1
Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome Maria Isabel Achatz,Anita Villani,Alison Bertuch,Gaëlle Bougeard,Vivian Changet al. Clinical Cancer Research, 2025, ⟨10.1158/1078-0432.CCR-24-3301⟩ Article dans une revue hal-04988891v1
Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories Edwige Kasper,Flavie Boulouard,Noémie Basset,Lisa Golmard,Hela Sassiet al. International Journal of Cancer, 2025, 157 (5), pp.897-907. ⟨10.1002/ijc.35475⟩ Article dans une revue hal-05423362v1
Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy Luke Maese,Marcin Wlodarski,Sun Young Kim,Alison Bertuch,Gaëlle Bougeardet al. Clinical Cancer Research, 2024, pp.OF1-OF10. ⟨10.1158/1078-0432.CCR-24-0685⟩ Article dans une revue (article de synthèse) hal-04709821v1
Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith–Wiedemann Syndrome and Other Predisposition Syndromes Jennifer Kalish,Kerri Becktell,Gaëlle Bougeard,Garrett Brodeur,Lisa Dilleret al. Clinical Cancer Research, 2024, 30 (23), pp.5260-5269. ⟨10.1158/1078-0432.CCR-24-2100⟩ Article dans une revue hal-04988945v1
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome Emilie Montellier,Nathanaël Lemonnier,Judith Penkert,Claire Freycon,Sandrine Blanchetet al. iScience, 2024, 27 (12), pp.111296. ⟨10.1016/j.isci.2024.111296⟩ Article dans une revue hal-05008013v1
Li–Fraumeni‐associated osteosarcomas: The French experience Emilie Saucier,Gaëlle Bougeard,Anne Gomez‐mascard,Catherine Schramm,Rachid Abbaset al. Pediatric Blood and Cancer, 2024, 71 (12), pp.e31362. ⟨10.1002/pbc.31362⟩ Article dans une revue inserm-04965400v1
Clinical outcome of pediatric medulloblastoma patients with Li–Fraumeni syndrome Anna Kolodziejczak,Lea Guerrini-Rousseau,Julien Masliah Planchon,Jonas Ecker,Florian Seltet al. Neuro-Oncology, 2023, 25 (12), pp.2273-2286. ⟨10.1093/neuonc/noad114⟩ Article dans une revue hal-04451359v1
Detecting inversions in routine molecular diagnosis in MMR genes Edwige Kasper,Sophie Coutant,Sandrine Manase,Stéphanie Vasseur,Pierre Macquèreet al. Familial Cancer, 2022, 21 (4), pp.423-428. ⟨10.1007/s10689-021-00287-5⟩ Article dans une revue hal-04451367v1
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation Olivier Quenez,Kevin Cassinari,Sophie Coutant,Francois Lecoquierre,Kilan Le Guennecet al. European Journal of Human Genetics, 2021, 29, pp.99-109. ⟨10.1038/s41431-020-0672-2⟩ Article dans une revue hal-02317979v2
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium Flavie Boulouard,Edwige Kasper,Marie-Pierre Buisine,Gwendoline Lienard,Stéphanie Vasseuret al. Clinical Genetics, 2021, 99 (5), pp.662-672. ⟨10.1111/cge.13925⟩ Article dans une revue hal-04451378v1
Blood functional assay for rapid clinical interpretation of germline TP53 variants Sabine Raad,Marion Rolain,Sophie Coutant,Céline Derambure,Raphaël Lanoset al. Journal of Medical Genetics, 2020, 58 (12), pp.796-805. ⟨10.1136/jmedgenet-2020-107059⟩ Article dans une revue hal-03106841v1
Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience Morgane Pondrom,Gaëlle Bougeard,Marie Karanian,Jacynthe Bonneau-Lagacherie,Cecile Boulangeret al. Pediatric Blood and Cancer, 2020, 67 (9), pp.e28486. ⟨10.1002/pbc.28486⟩ Article dans une revue hal-03106844v1
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome Qing Wang,Julie Leclerc,Gaëlle Bougeard,Sylviane Olschwang,Stéphanie Vasseuret al. Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩ Article dans une revue hal-02460716v1
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome Mariette Renaux-Petel,Francoise Charbonnier,Jean-Christophe Thery,Pierre Fermey,Gwendoline Lienardet al. Journal of Medical Genetics, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩ Article dans une revue hal-02355680v1
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes Stéphanie Baert-Desurmont,Sophie Coutant,Francoise Charbonnier,Pierre Macquère,François Lecoquierreet al. European Journal of Human Genetics, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩ Article dans une revue hal-02355649v1
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations Edwige Kasper,Émilie Angot,Elodie Colasse,Lionel Nicol,Jean-Christophe Sabourinet al. European Journal of Cancer, 2018, 101, pp.254-262. ⟨10.1016/j.ejca.2018.06.011⟩ Article dans une revue hal-02375757v1
Gestational choriocarcinoma associated with a germline TP53 mutation Anne-Claire Bréhin,Sophie Patrier-Sallebert,Gaëlle Bougeard,Gwendoline Side-Pfennig,Francisco Llamas Gutierrezet al. Familial Cancer, 2018, 17 (1), pp.113-117. ⟨10.1007/s10689-017-9996-7⟩ Article dans une revue hal-02356003v1
The wide spectrum of POT1 gene variants correlates with multiple cancer types Oriol Calvete,Pablo Garcia-Pavia,Fernando Domínguez,Gaëlle Bougeard,Kristin Kunzeet al. European Journal of Human Genetics, 2017, 25 (11), pp.1278-1281. ⟨10.1038/ejhg.2017.134⟩ Article dans une revue hal-02355695v1
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma Fanélie Jouenne,Isaure Chauvot de Beauchêne,Emeline Bollaert,Marie-Francoise Avril,Olivier Caronet al. Journal of Medical Genetics, 2017, 54 (9), pp.607-612. ⟨10.1136/jmedgenet-2016-104402⟩ Article dans une revue hal-01580787v1
Familial solitary chondrosarcoma resulting from germline EXT2 mutation. Abdelkader Heddar,Pierre Fermey,Sophie Coutant,Émilie Angot,Jean-Christophe Sabourinet al. Genes, Chromosomes & Cancer, 2017, 56 (2), pp.128-134. ⟨10.1002/gcc.22419⟩ Article dans une revue hal-02356324v1
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage Yasmine Zerdoumi,Raphaël Lanos,Sabine Raad,Jean-Michel Flaman,Gaëlle Bougeardet al. Human Molecular Genetics, 2017, 26 (14), pp.2591-2602. ⟨10.1093/hmg/ddx165⟩ Article dans une revue hal-02356269v1
MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation Aurélia Nguyen,Gaëlle Bougeard,Mériam Koob,Marie Pierre Chenard,Anne Schneideret al. Familial Cancer, 2016, 15 (4), pp.571-577. ⟨10.1007/s10689-016-9894-4⟩ Article dans une revue hal-02356387v1
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers Gaëlle Bougeard,Mariette Renaux-Petel,Jean-Michel Flaman,Camille Charbonnier,Pierre Fermeyet al. Journal of Clinical Oncology, 2015, 33 (21), pp.2345-2352. ⟨10.1200/JCO.2014.59.5728⟩ Article dans une revue hal-02356329v1
Transmission of germline TP53 mutations from male carriers to female partners Sophie Patrier-Sallebert,Gaëlle Bougeard,Stéphanie Baert-Desurmont,Aude Lamy,Jean-Michel Flamanet al. Journal of Medical Genetics, 2015, 52 (3), pp.145-146. ⟨10.1136/jmedgenet-2014-102853⟩ Article dans une revue hal-02356418v1
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families Oriol Calvete,Paula Martinez,Pablo Garcia-Pavia,Carlos Benitez-Buelga,Beatriz Paumard-Hernándezet al. Nature Communications, 2015, 6 (1), ⟨10.1038/ncomms9383⟩ Article dans une revue hal-02356340v1
A new genotoxicity assay based on p53 target gene induction Yasmine Zerdoumi,Edwige Kasper,Flavie Soubigou,S. Adriouch,Gaëlle Bougeardet al. Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 2015, 789-790, pp.28-35. ⟨10.1016/j.mrgentox.2015.05.010⟩ Article dans une revue hal-02356415v1
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort N Lavoine,C. Colas,M Muleris,S Bodo,A. Duvalet al. Journal of Medical Genetics, 2015, 52 (11), pp.770-778. ⟨10.1136/jmedgenet-2015-103299⟩ Article dans une revue hal-02356405v1
Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis Beng Hooi Phang,Rashidah Othman,Gaëlle Bougeard,Ren Hui Chia,Thierry Frébourget al. Proceedings of the National Academy of Sciences of the United States of America, 2015, 112 (46), pp.E6349-E6358. ⟨10.1073/pnas.1510043112⟩ Article dans une revue hal-02356393v1
Diversity of the clinical presentation of the MMR gene biallelic mutations Gaëlle Bougeard,Laurence Olivier-Faivre,Stéphanie Baert-Desurmont,Julie Tinat,Cosette Martinet al. Familial Cancer, 2014, 13 (1), pp.131-135. ⟨10.1007/s10689-013-9676-1⟩ Article dans une revue hal-03106912v1
Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors Isabelle Tournier,Régine Marlin,Kelly Walton,Francoise Charbonnier,Sophie Coutantet al. Human Mutation, 2014, 35 (3), pp.294-297. ⟨10.1002/humu.22489⟩ Article dans une revue hal-02375836v1
The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome Mariette Renaux-Petel,Richard Sesboüé,Stéphanie Baert-Desurmont,Stéphanie Vasseur,Steeve Fourneauxet al. Familial Cancer, 2014, 13 (1), pp.127-130. ⟨10.1007/s10689-013-9667-2⟩ Article dans une revue hal-03106914v1
Drastic Effect of Germline TP53 Missense Mutations in Li-Fraumeni Patients Yasmine Zerdoumi,Juliette Aury-Landas,Catherine Bonaïti-Pellié,Céline Derambure,Richard Sesboüeet al. Human Mutation, 2013, 34 (3), pp.453-461. ⟨10.1002/humu.22254⟩ Article dans une revue istex hal-02329548v1
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours Juliette Aury-Landas,Gaëlle Bougeard,Hélène Castel,Hector Hernandez-Vargas,Aurélie Drouetet al. European Journal of Human Genetics, 2013, 21 (12), pp.1369-1376. ⟨10.1038/ejhg.2013.68⟩ Article dans une revue hal-02281655v1
TP53 mutations predict disease control in metastatic colorectal cancer treated with cetuximab-based chemotherapy A. Oden-Gangloff,F. Di Fiore,Frédéric Bibeau,A. Lamy,Gaëlle Bougeardet al. British Journal of Cancer, 2009, 100 (8), pp.1330-1335. ⟨10.1038/sj.bjc.6605008⟩ Article dans une revue hal-03106923v1
2009 Version of the Chompret Criteria for Li Fraumeni Syndrome Julie Tinat,Gaëlle Bougeard,Stéphanie Baert-Desurmont,Stéphanie Vasseur,Cosette Martinet al. Journal of Clinical Oncology, 2009, 27 (26), pp.e108-e109. ⟨10.1200/JCO.2009.22.7967⟩ Article dans une revue hal-05103215v1
An Information-Theoretic Analysis of Genetics, Gender and Age in Cancer Patients Gurinder Singh Atwal,Raúl Rabadán,Guillermina Lozano,Louise Strong,Mariëlle Ruijset al. PLoS ONE, 2008, 3 (4), pp.e1951. ⟨10.1371/journal.pone.0001951⟩ Article dans une revue hal-03106931v1
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families Gaëlle Bougeard,R. Sesboue,S Baert-Desurmont,S Vasseur,C. Martinet al. Journal of Medical Genetics, 2008, 45 (8), pp.535-538. ⟨10.1136/jmg.2008.057570⟩ Article dans une revue istex hal-03106929v1
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,Sophie Vasseur,Cosette Martinet al. Journal of Medical Genetics, 2006, 43 (6), pp.531-3. ⟨10.1136/jmg.2005.037952⟩ Article dans une revue inserm-00128004v1
Serum Antibodies to Huntingtin Interacting Protein-1: A New Blood Test for Prostate Cancer Sarah Bradley,Katherine Oravecz-Wilson,Gaëlle Bougeard,Ikuko Mizukami,Lina Liet al. Cancer Research, 2005, 65 (10), pp.4126-4133. ⟨10.1158/0008-5472.CAN-04-4658⟩ Article dans une revue hal-03106938v1
Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability Audrey Killian,Nathalie Le Meur,Richard Sesboüé,Jeannette Bourguignon,Gaëlle Bougeardet al. Oncogene, 2004, 23 (53), pp.8597-8602. ⟨10.1038/sj.onc.1207845⟩ Article dans une revue hal-03106941v1
The Rapp–Hodgkin syndrome results from mutations of the TP63 gene Gaëlle Bougeard,Smail Hadj-Rabia,Laurence Faivre,Nasrin Sarafan-Vasseur,Thierry Frebourg European Journal of Human Genetics, 2003, 11 (9), pp.700-704. ⟨10.1038/sj.ejhg.5201004⟩ Article dans une revue hal-03106944v1
Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene Gaëlle Bougeard,Laurence Brugieres,Agnes Chompret,Paul Gesta,Francoise Charbonnieret al. Oncogene, 2003, 22 (6), pp.840-846. ⟨10.1038/sj.onc.1206155⟩ Article dans une revue hal-03106947v1
TP63 gene mutation in ADULT syndrome Jeanne Amiel,Gaëlle Bougeard,Christine Francannet,Valérie Raclin,Arnold Munnichet al. European Journal of Human Genetics, 2001, 9 (8), pp.642-645. ⟨10.1038/sj.ejhg.5200676⟩ Article dans une revue hal-03106954v1
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome Gaëlle Bougeard,J Limacher,C. Martin,F. Charbonnier,A. Killianet al. Journal of Medical Genetics, 2001, 38 (4), pp.253-257. ⟨10.1136/jmg.38.4.253⟩ Article dans une revue hal-03106956v1

Chapitre d'ouvrage (1)

Syndrome de Li-Fraumeni Gaëlle Bougeard,Thierry Frebourg Epidémiologie des cancers de l'enfant, 2009 Chapitre d'ouvrage hal-03107078v1

Brevet (1)

A global assay for the measurement of genotoxic stress based on p53 target gene induction Jm Flaman,T Frébourg,Gaëlle Bougeard,Y Zerdoumi France, Patent n° : WO 2014170436 A1. 2014 Brevet hal-05537236v1

Pré-publication, Document de travail (2)

Tumor Patterns and Cancer Risk in Carriers of TP53 exonic Germline Variants that alter mRNA Splicing Deborah Schoenegger,Emilie Montellier,Sandrine Blanchet,Claire Freycon,Paola Montiet al. 2025 Pré-publication, Document de travail hal-05310079v1
Fine resolution clustering of TP53 variants into functional classes predicts cancer risks and spectra among germline variant carriers Emilie Montellier,Nathanaël Lemonnier,Judith Penkert,Claire Freycon,Sandrine Blanchetet al. 2024 Pré-publication, Document de travail hal-04451403v1