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Gaëlle Bougeard

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Publications

Clinical outcome of pediatric medulloblastoma patients with Li–Fraumeni syndrome

Anna Kolodziejczak , Lea Guerrini-Rousseau , Julien Masliah Planchon , Jonas Ecker , Florian Selt
Neuro-Oncology, 2023, 25 (12), pp.2273-2286. ⟨10.1093/neuonc/noad114⟩
Journal articles hal-04451359v1

Detecting inversions in routine molecular diagnosis in MMR genes

Edwige Kasper , Sophie Coutant , Sandrine Manase , Stéphanie Vasseur , Pierre Macquère
Familial Cancer, 2022, 21 (4), pp.423-428. ⟨10.1007/s10689-021-00287-5⟩
Journal articles hal-04451367v1

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium

Flavie Boulouard , Edwige Kasper , Marie-Pierre Buisine , Gwendoline Lienard , Stéphanie Vasseur
Clinical Genetics, 2021, 99 (5), pp.662-672. ⟨10.1111/cge.13925⟩
Journal articles hal-04451378v1

Blood functional assay for rapid clinical interpretation of germline TP53 variants

Sabine Raad , Marion Rolain , Sophie Coutant , Céline Derambure , Raphaël Lanos
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-107059. ⟨10.1136/jmedgenet-2020-107059⟩
Journal articles 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 Boulanger
Pediatric Blood and Cancer, 2020, 67 (9), pp.e28486. ⟨10.1002/pbc.28486⟩
Journal articles hal-03106844v1

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome

Qing Wang , Julie Leclerc , Gaëlle Bougeard , Sylviane Olschwang , Stéphanie Vasseur
Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩
Journal articles hal-02460716v1

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
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Journal articles hal-02883904v1

Gestational choriocarcinoma associated with a germline TP53 mutation

Anne-Claire Bréhin , Sophie Patrier-Sallebert , Gaëlle Bougeard , Gwendoline Side-Pfennig , Francisco Llamas Gutierrez
Familial Cancer, 2018, 17 (1), pp.113-117. ⟨10.1007/s10689-017-9996-7⟩
Journal articles 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
European Journal of Cancer, 2018, 101, pp.254-262. ⟨10.1016/j.ejca.2018.06.011⟩
Journal articles 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
European Journal of Human Genetics, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩
Journal articles hal-02355649v1

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

Mariette Renaux-Petel , Francoise Charbonnier , Jean-Christophe Thery , Pierre Fermey , Gwendoline Lienard
Journal of Medical Genetics, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩
Journal articles hal-02355680v1

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Abdelkader Heddar , Pierre Fermey , Sophie Coutant , Émilie Angot , Jean-Christophe Sabourin
Genes, Chromosomes & Cancer, 2017, 56 (2), pp.128-134. ⟨10.1002/gcc.22419⟩
Journal articles 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
Human Molecular Genetics, 2017, 26 (14), pp.2591-2602. ⟨10.1093/hmg/ddx165⟩
Journal articles hal-02356269v1

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

Oriol Calvete , Pablo Garcia-Pavia , Fernando Domínguez , Gaëlle Bougeard , Kristin Kunze
European Journal of Human Genetics, 2017, 25 (11), pp.1278-1281. ⟨10.1038/ejhg.2017.134⟩
Journal articles hal-02355695v1
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Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma

Fanélie Jouenne , Isaure Chauvot de Beauchêne , Emeline Bollaert , Marie-Francoise Avril , Olivier Caron
Journal of Medical Genetics, 2017, 54 (9), pp.607-612. ⟨10.1136/jmedgenet-2016-104402⟩
Journal articles hal-01580787v1

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
Familial Cancer, 2016, 15 (4), pp.571-577. ⟨10.1007/s10689-016-9894-4⟩
Journal articles 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
Proceedings of the National Academy of Sciences of the United States of America, 2015, 112 (46), pp.E6349-E6358. ⟨10.1073/pnas.1510043112⟩
Journal articles hal-02356393v1

A new genotoxicity assay based on p53 target gene induction

Yasmine Zerdoumi , Edwige Kasper , Flavie Soubigou , S. Adriouch , Gaëlle Bougeard
Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 2015, 789-790, pp.28-35. ⟨10.1016/j.mrgentox.2015.05.010⟩
Journal articles hal-02356415v1

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
Nature Communications, 2015, 6 (1), ⟨10.1038/ncomms9383⟩
Journal articles hal-02356340v1

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

N Lavoine , C. Colas , M Muleris , S Bodo , A. Duval
Journal of Medical Genetics, 2015, 52 (11), pp.770-778. ⟨10.1136/jmedgenet-2015-103299⟩
Journal articles hal-02356405v1

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Gaëlle Bougeard , Mariette Renaux-Petel , Jean-Michel Flaman , Camille Charbonnier , Pierre Fermey
Journal of Clinical Oncology, 2015, 33 (21), pp.2345-2352. ⟨10.1200/JCO.2014.59.5728⟩
Journal articles 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 Flaman
Journal of Medical Genetics, 2015, 52 (3), pp.145-146. ⟨10.1136/jmedgenet-2014-102853⟩
Journal articles hal-02356418v1

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
Familial Cancer, 2014, 13 (1), pp.127-130. ⟨10.1007/s10689-013-9667-2⟩
Journal articles hal-03106914v1
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Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors

Isabelle Tournier , Régine Marlin , Kelly Walton , Francoise Charbonnier , Sophie Coutant
Human Mutation, 2014, 35 (3), pp.294-297. ⟨10.1002/humu.22489⟩
Journal articles hal-02375836v1

Diversity of the clinical presentation of the MMR gene biallelic mutations

Gaëlle Bougeard , Laurence Olivier-Faivre , Stéphanie Baert-Desurmont , Julie Tinat , Cosette Martin
Familial Cancer, 2014, 13 (1), pp.131-135. ⟨10.1007/s10689-013-9676-1⟩
Journal articles hal-03106912v1

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

Yasmine Zerdoumi , Juliette Aury-Landas , Catherine Bonaïti-Pellié , Céline Derambure , Richard Sesboüe
Human Mutation, 2013, 34 (3), pp.453-461. ⟨10.1002/humu.22254⟩
Journal articles 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
European Journal of Human Genetics, 2013, 21 (12), pp.1369-1376. ⟨10.1038/ejhg.2013.68⟩
Journal articles hal-02281655v1
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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
British Journal of Cancer, 2009, 100 (8), pp.1330-1335. ⟨10.1038/sj.bjc.6605008⟩
Journal articles hal-03106923v1

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
Journal of Medical Genetics, 2008, 45 (8), pp.535-538. ⟨10.1136/jmg.2008.057570⟩
Journal articles 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
PLoS ONE, 2008, 3 (4), pp.e1951. ⟨10.1371/journal.pone.0001951⟩
Journal articles hal-03106931v1
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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
Journal of Medical Genetics, 2006, 43 (6), pp.531-3. ⟨10.1136/jmg.2005.037952⟩
Journal articles 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
Cancer Research, 2005, 65 (10), pp.4126-4133. ⟨10.1158/0008-5472.CAN-04-4658⟩
Journal articles 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
Oncogene, 2004, 23 (53), pp.8597-8602. ⟨10.1038/sj.onc.1207845⟩
Journal articles 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⟩
Journal articles 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 Charbonnier
Oncogene, 2003, 22 (6), pp.840-846. ⟨10.1038/sj.onc.1206155⟩
Journal articles hal-03106947v1

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
Journal of Medical Genetics, 2001, 38 (4), pp.253-257. ⟨10.1136/jmg.38.4.253⟩
Journal articles hal-03106956v1

TP63 gene mutation in ADULT syndrome

Jeanne Amiel , Gaëlle Bougeard , Christine Francannet , Valérie Raclin , Arnold Munnich
European Journal of Human Genetics, 2001, 9 (8), pp.642-645. ⟨10.1038/sj.ejhg.5200676⟩
Journal articles hal-03106954v1

Syndrome de Li-Fraumeni

Gaëlle Bougeard , Thierry Frebourg
Epidémiologie des cancers de l'enfant, 2009
Book sections hal-03107078v1