Gaëlle Bougeard

Documents

Publications

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome

Emilie Montellier , Olivier Manches , Jonathan Gaucher , Claire Freycon , David Hoyos et al.

EBioMedicine, 2026, 123, pp.106065. ⟨10.1016/j.ebiom.2025.106065⟩

Article dans une revue hal-05430020v1

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 Monti et al.

European Journal of Human Genetics, 2026, ⟨10.1038/s41431-026-02061-6⟩

Article dans une revue hal-05537239v1

Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

Maria Isabel Achatz , Anita Villani , Alison Bertuch , Gaëlle Bougeard , Vivian Chang et 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 Sassi et al.

International Journal of Cancer, 2025, 157 (5), pp.897-907. ⟨10.1002/ijc.35475⟩

Article dans une revue hal-05423362v1

Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript

Jeanne Louis , Marion Rolain , Corentin Levacher , Karen Baudry , Pascal Pujol et al.

Journal of Medical Genetics, 2025, 62 (3), pp.160-168. ⟨10.1136/jmg-2024-110449⟩

Article dans une revue hal-04988920v1

Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes

Jack Brzezinski , Kerri Becktell , Gaëlle Bougeard , Garrett Brodeur , Lisa Diller et al.

Clinical Cancer Research, 2025, 31 (1), pp.18-24. ⟨10.1158/1078-0432.CCR-24-2488⟩

Article dans une revue hal-04988996v1

Bone sarcomas and cancer predisposition syndromes

Camille Tlemsani , Gaëlle Bougeard , Marion Gauthier-Villars , Philippe Denizeau , Sarah Winter et 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 Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy

Luke Maese , Marcin Wlodarski , Sun Young Kim , Alison Bertuch , Gaëlle Bougeard et 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 Diller et al.

Clinical Cancer Research, 2024, 30 (23), pp.5260-5269. ⟨10.1158/1078-0432.CCR-24-2100⟩

Article dans une revue hal-04988945v1

Li–Fraumeni‐associated osteosarcomas: The French experience

Emilie Saucier , Gaëlle Bougeard , Anne Gomez‐mascard , Catherine Schramm , Rachid Abbas et al.

Pediatric Blood and Cancer, 2024, 71 (12), pp.e31362. ⟨10.1002/pbc.31362⟩

Article dans une revue inserm-04965400v1

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 Blanchet et al.

iScience, 2024, 27 (12), pp.111296. ⟨10.1016/j.isci.2024.111296⟩

Article dans une revue hal-05008013v1

Clinical outcome of pediatric medulloblastoma patients with Li–Fraumeni syndrome

Anna Kolodziejczak , Lea Guerrini-Rousseau , Julien Masliah Planchon , Jonas Ecker , Florian Selt et 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 Macquère et al.

Familial Cancer, 2022, 21 (4), pp.423-428. ⟨10.1007/s10689-021-00287-5⟩

Article dans une revue hal-04451367v1

Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes

Juliette Thariat , Francois Chevalier , Daniel Orbach , Luc Ollivier , Pierre-Yves Marcy et al.

Lancet Oncology, 2021, 22 (12), pp.e562-e574. ⟨10.1016/s1470-2045(21)00425-3⟩

Article dans une revue hal-05596183v1

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 Guennec et al.

European Journal of Human Genetics, 2021, 29, pp.99-109. ⟨10.1038/s41431-020-0672-2⟩

Article dans une revue hal-02317979v2

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome

Qing Wang , Julie Leclerc , Gaëlle Bougeard , Sylviane Olschwang , Stéphanie Vasseur et al.

Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩

Article dans une revue hal-02460716v1

Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience

Morgane Pondrom , Gaëlle Bougeard , Marie Karanian , Jacynthe Bonneau-Lagacherie , Cecile Boulanger et al.

Pediatric Blood and Cancer, 2020, 67 (9), pp.e28486. ⟨10.1002/pbc.28486⟩

Article dans une revue hal-03106844v1

Blood functional assay for rapid clinical interpretation of germline TP53 variants

Sabine Raad , Marion Rolain , Sophie Coutant , Céline Derambure , Raphaël Lanos et al.

Journal of Medical Genetics, 2020, 58 (12), pp.796-805. ⟨10.1136/jmedgenet-2020-107059⟩

Article dans une revue hal-03106841v1

Gestational choriocarcinoma associated with a germline TP53 mutation

Anne-Claire Bréhin , Sophie Patrier-Sallebert , Gaëlle Bougeard , Gwendoline Side-Pfennig , Francisco Llamas Gutierrez et al.

Familial Cancer, 2018, 17 (1), pp.113-117. ⟨10.1007/s10689-017-9996-7⟩

Article dans une revue hal-02356003v1

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 Sabourin et al.

European Journal of Cancer, 2018, 101, pp.254-262. ⟨10.1016/j.ejca.2018.06.011⟩

Article dans une revue istex hal-02375757v1

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 Lecoquierre et al.

European Journal of Human Genetics, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩

Article dans une revue hal-02355649v1

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Abdelkader Heddar , Pierre Fermey , Sophie Coutant , Émilie Angot , Jean-Christophe Sabourin et 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 Bougeard et al.

Human Molecular Genetics, 2017, 26 (14), pp.2591-2602. ⟨10.1093/hmg/ddx165⟩

Article dans une revue hal-02356269v1

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma

Fanélie Jouenne , Isaure Chauvot de Beauchêne , Emeline Bollaert , Marie-Francoise Avril , Olivier Caron et al.

Journal of Medical Genetics, 2017, 54 (9), pp.607-612. ⟨10.1136/jmedgenet-2016-104402⟩

Article dans une revue hal-01580787v1

The wide spectrum of POT1 gene variants correlates with multiple cancer types

Oriol Calvete , Pablo Garcia-Pavia , Fernando Domínguez , Gaëlle Bougeard , Kristin Kunze et al.

European Journal of Human Genetics, 2017, 25 (11), pp.1278-1281. ⟨10.1038/ejhg.2017.134⟩

Article dans une revue hal-02355695v1

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 Schneider et al.

Familial Cancer, 2016, 15 (4), pp.571-577. ⟨10.1007/s10689-016-9894-4⟩

Article dans une revue hal-02356387v1

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 Frébourg et 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

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-Hernández et al.

Nature Communications, 2015, 6 (1), ⟨10.1038/ncomms9383⟩

Article dans une revue hal-02356340v1

Transmission of germline TP53 mutations from male carriers to female partners

Sophie Patrier-Sallebert , Gaëlle Bougeard , Stéphanie Baert-Desurmont , Aude Lamy , Jean-Michel Flaman et al.

Journal of Medical Genetics, 2015, 52 (3), pp.145-146. ⟨10.1136/jmedgenet-2014-102853⟩

Article dans une revue hal-02356418v1

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Gaëlle Bougeard , Mariette Renaux-Petel , Jean-Michel Flaman , Camille Charbonnier , Pierre Fermey et al.

Journal of Clinical Oncology, 2015, 33 (21), pp.2345-2352. ⟨10.1200/JCO.2014.59.5728⟩

Article dans une revue hal-02356329v1

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

N Lavoine , C. Colas , M Muleris , S Bodo , A. Duval et al.

Journal of Medical Genetics, 2015, 52 (11), pp.770-778. ⟨10.1136/jmedgenet-2015-103299⟩

Article dans une revue hal-02356405v1

A new genotoxicity assay based on p53 target gene induction

Yasmine Zerdoumi , Edwige Kasper , Flavie Soubigou , S. Adriouch , Gaëlle Bougeard et 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

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 Fourneaux et al.

Familial Cancer, 2014, 13 (1), pp.127-130. ⟨10.1007/s10689-013-9667-2⟩

Article dans une revue hal-03106914v1

Diversity of the clinical presentation of the MMR gene biallelic mutations

Gaëlle Bougeard , Laurence Olivier-Faivre , Stéphanie Baert-Desurmont , Julie Tinat , Cosette Martin et 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 Coutant et al.

Human Mutation, 2014, 35 (3), pp.294-297. ⟨10.1002/humu.22489⟩

Article dans une revue hal-02375836v1

Drastic Effect of Germline TP53 Missense Mutations in Li-Fraumeni Patients

Yasmine Zerdoumi , Juliette Aury-Landas , Catherine Bonaïti-Pellié , Céline Derambure , Richard Sesboüe et 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 Drouet et 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 Bougeard et 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 Martin et al.

Journal of Clinical Oncology, 2009, 27 (26), pp.e108-e109. ⟨10.1200/JCO.2009.22.7967⟩

Article dans une revue hal-05103215v1

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families

Gaëlle Bougeard , R. Sesboue , S Baert-Desurmont , S Vasseur , C. Martin et al.

Journal of Medical Genetics, 2008, 45 (8), pp.535-538. ⟨10.1136/jmg.2008.057570⟩

Article dans une revue istex hal-03106929v1

An Information-Theoretic Analysis of Genetics, Gender and Age in Cancer Patients

Gurinder Singh Atwal , Raúl Rabadán , Guillermina Lozano , Louise Strong , Mariëlle Ruijs et al.

PLoS ONE, 2008, 3 (4), pp.e1951. ⟨10.1371/journal.pone.0001951⟩

Article dans une revue hal-03106931v1

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 Martin et 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 Li et 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 Bougeard et al.

Oncogene, 2004, 23 (53), pp.8597-8602. ⟨10.1038/sj.onc.1207845⟩

Article dans une revue hal-03106941v1

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 Charbonnier et al.

Oncogene, 2003, 22 (6), pp.840-846. ⟨10.1038/sj.onc.1206155⟩

Article dans une revue hal-03106947v1

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

TP63 gene mutation in ADULT syndrome

Jeanne Amiel , Gaëlle Bougeard , Christine Francannet , Valérie Raclin , Arnold Munnich et 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. Killian et al.

Journal of Medical Genetics, 2001, 38 (4), pp.253-257. ⟨10.1136/jmg.38.4.253⟩

Article dans une revue hal-03106956v1

Cerebral organoids: an innovative model revealing uncharted early neurodevelopmental alterations in Li-Fraumeni cancer predisposition syndrome

Yann Zerguine , Gabin Carpentier , Laurence Desrues , Jeanne Louis , Gaëlle Bougeard et al.

18èmes Journées scientifiques du Cancéropôle Nord-Ouest (CNO), May 2026, Deauville, France

Poster de conférence hal-05764228v1

Development of tumoral and neuropathological organoids for precision medicine

Gabin Carpentier , Lucie Martin , Pascal Hilber , Laurence Desrues , Alexandra Carmon et al.

8ème Journée Normande de Recherche Biomédicale, Jun 2025, Caen, France

Poster de conférence hal-05764221v1

Development of Tumoral and Neuropathological Organoids for Precision Medicine

Gabin Carpentier , Lucie Martin , Pascal Hilber , Laurence Desrues , Alexandra Carmon et al.

2nd Thematic Workshop on 3D Cells Models, Nov 2025, Tours, France. 2025

Poster de conférence hal-05762980v1

Impact of TP53 hotspot mutations p.R282W and p.R337H on the development of cortical cerebral organoids

Gabin Carpentier , Laurence Desrues , Jeanne Louis , Lucie Martin , Gaëlle Bougeard et al.

Symposium on cortical and spinal organoids, Jan 2024, Paris, France

Poster de conférence hal-05739283v1

Impact of TP53 Hotspot Mutations p.R282W and p.R337H on the Development of Cortical Organoids

Gabin Carpentier , Laurence Desrues , Jeanne Louis , Yann Zerguine , Lucie Martin et al.

16èmes Journées Scientifiques Du Cancéropôle Nord-Ouest (CNO), May 2024, Deauville, France. 2024

Poster de conférence hal-05763307v1

Syndrome de Li-Fraumeni

Gaëlle Bougeard , Thierry Frebourg

Epidémiologie des cancers de l'enfant, 2009

Chapitre d'ouvrage hal-03107078v1

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

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 Monti et 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 Blanchet et al.

2024

Pré-publication, Document de travail hal-04451403v1

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