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Blood functional assay for rapid clinical interpretation of germline TP53 variants
Sabine Raad
,
Marion Rolain
,
Sophie Coutant
,
Céline Derambure
,
Raphaël Lanos
et al.
Journal articles
hal-03106841v1
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Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome
Qing Wang
,
Julie Leclerc
,
Gaëlle Bougeard
,
Sylviane Olschwang
,
Stéphanie Vasseur
et al.
Journal articles
hal-02460716v1
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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.
Journal articles
hal-03106844v1
|
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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.
Journal articles
hal-02883904v1
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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.
Journal articles
hal-02355649v1
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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.
Journal articles
hal-02375757v1
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Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome
Mariette Renaux-Petel
,
Francoise Charbonnier
,
Jean-Christophe Thery
,
Pierre Fermey
,
Gwendoline Lienard
et al.
Journal articles
hal-02355680v1
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Gestational choriocarcinoma associated with a germline TP53 mutation
Anne-Claire Bréhin
,
Sophie Patrier-Sallebert
,
Gaëlle Bougeard
,
Gwendoline Side-Pfennig
,
Francisco Llamas Gutierrez
et al.
Journal articles
hal-02356003v1
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Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Abdelkader Heddar
,
Pierre Fermey
,
Sophie Coutant
,
Émilie Angot
,
Jean-Christophe Sabourin
et al.
Journal articles
hal-02356324v1
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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.
Journal articles
hal-02355695v1
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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.
Journal articles
hal-02356269v1
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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
et al.
Journal articles
hal-01580787v1
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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.
Journal articles
hal-02356387v1
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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.
Journal articles
hal-02356340v1
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Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
N Lavoine
,
C. Colas
,
M Muleris
,
S Bodo
,
A. Duval
et al.
Journal articles
hal-02356405v1
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A new genotoxicity assay based on p53 target gene induction
Yasmine Zerdoumi
,
Edwige Kasper
,
Flavie Soubigou
,
S. Adriouch
,
Gaëlle Bougeard
et al.
Journal articles
hal-02356415v1
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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 articles
hal-02356418v1
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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
Gaëlle Bougeard
,
Mariette Renaux-Petel
,
Jean-Michel Flaman
,
Camille Charbonnier
,
Pierre Fermey
et al.
Journal articles
hal-02356329v1
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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⟩
Journal articles
hal-02356393v1
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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.
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
et al.
Journal articles
hal-02375836v1
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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.
Journal articles
hal-03106912v1
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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.
Journal articles
hal-02329548v1
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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.
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
et al.
Journal articles
hal-03106923v1
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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 articles
hal-03106929v1
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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.
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
et al.
Journal articles
inserm-00128004v1
|
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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.
Journal articles
hal-03106938v1
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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.
Journal articles
hal-03106941v1
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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.
Journal articles
hal-03106947v1
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The Rapp–Hodgkin syndrome results from mutations of the TP63 gene
Gaëlle Bougeard
,
Smail Hadj-Rabia
,
Laurence Faivre
,
Nasrin Sarafan-Vasseur
,
Thierry Frebourg
et al.
Journal articles
hal-03106944v1
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TP63 gene mutation in ADULT syndrome
Jeanne Amiel
,
Gaëlle Bougeard
,
Christine Francannet
,
Valérie Raclin
,
Arnold Munnich
et al.
Journal articles
hal-03106954v1
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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 articles
hal-03106956v1
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