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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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Worse prognosis of KRAS c.35 G > A mutant metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx).
Gemma Bruera
,
Katia Cannita
,
Daniela Di Giacomo
,
Aude Lamy
,
Thierry Frébourg
,
et al.
Journal articles
inserm-00817083v1
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Short report: Monitoring ESR 1 mutations by circulating tumor DNA in aromatase inhibitor resistant metastatic breast cancer
David Sefrioui
,
Anne Perdrix
,
Nasrin Sarafan-Vasseur
,
Claire Dolfus
,
Antoine Dujon
,
et al.
Journal articles
hal-02353282v1
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Copy number variations in DCC/ 18q and ERBB2/ 17q are associated with disease-free survival in microsatellite stable colon cancer
David Sefrioui
,
Thomas Vermeulin
,
France Blanchard
,
Caroline Chapusot
,
Ludivine Beaussire
,
et al.
Journal articles
hal-02353187v1
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Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient
Kilan Le Guennec
,
Hélène Tubeuf
,
Didier Hannequin
,
David Wallon
,
Olivier Quenez
,
et al.
Journal articles
hal-02356252v1
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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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Type I hyperprolinemia: genotype/phenotype correlations
Audrey Guilmatre
,
Solenn Legallic
,
Gary Steel
,
Alecia Willis
,
Gabriella Di Rosa
,
et al.
Journal articles
hal-00599468v1
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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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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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Prognostic value of KRAS genotype in metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx) according to extension of metastatic disease.
Gemma Bruera
,
Katia Cannita
,
Daniela Di Giacomo
,
Aude Lamy
,
Giancarlo Troncone
,
et al.
Journal articles
inserm-00764322v1
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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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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System
Hélène Tubeuf
,
Sandrine M. Caputo
,
Teresa Sullivan
,
Julie Rondeaux
,
Sophie Krieger
,
et al.
Journal articles
hal-03597164v1
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Kinetics, prognostic and predictive values of ESR1 circulating mutations in metastatic breast cancer patients progressing on aromatase inhibitor
Florian Clatot
,
Anne Perdrix
,
Laetitia Augusto
,
Ludivine Beaussire
,
Julien Delacour
,
et al.
Journal articles
hal-02353218v1
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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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Genetic variations of the A13/A14 repeat located within the EGFR 3[prime] untranslated region have no oncogenic effect in patients with colorectal cancer.
Nasrin Sarafan-Vasseur
,
David Sefrioui
,
David Tougeron
,
Aude Lamy
,
France Blanchard
,
et al.
Journal articles
inserm-00813520v1
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Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
Emilie Degrolard-Courcet
,
Joanna Sokolowska
,
Marie-Martine Martin
,
Séverine Guiu
,
Myriam Bronner
,
et al.
Journal articles
hal-01688120v1
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Heparinase enables reliable quantification of circulating tumor DNA from heparinized plasma samples by droplet digital PCR
David Sefrioui
,
Ludivine Beaussire
,
Florian Clatot
,
Julien Delacour
,
Anne Perdrix
,
et al.
Journal articles
hal-02353148v1
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Direct circulating tumor DNA detection from unpurified plasma using a digital PCR platform
David Sefrioui
,
Ludivine Beaussire
,
Anne Perdrix
,
Florian Clatot
,
Pierre Michel
,
et al.
Journal articles
hal-02353154v1
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Clinical value of chip-based digital-PCR platform for the detection of circulating DNA in metastatic colorectal cancer
David Sefrioui
,
Nasrin Sarafan-Vasseur
,
Ludivine Beaussire
,
Marina Baretti
,
Alice Gangloff
,
et al.
Journal articles
hal-02353257v1
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Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care
Etienne Muller
,
Baptiste B. Brault
,
Allyson M. Holmes
,
Angelina Legros
,
Emmanuelle Jeannot
,
et al.
Journal articles
hal-01259401v1
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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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Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder
François Lecoquierre
,
Antoine Bonnevalle
,
Alexandra Chadie
,
Claire Gayet
,
Clémentine Dumant-Forest
,
et al.
Journal articles
hal-02356422v1
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Digital PCR for quantification of recurrent and potentially actionable somatic mutations in circulating free DNA from patients with diffuse large B-cell lymphoma
Vincent Camus
,
Nasrin Sarafan-Vasseur
,
Elodie Bohers
,
Sydney Dubois
,
Sylvain Mareschal
,
et al.
Journal articles
hal-02353245v1
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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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