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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.
Human Molecular Genetics, 2017, 26 (14), pp.2591-2602. ⟨10.1093/hmg/ddx165⟩
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.
BMC Medicine, 2013, 11 (1), pp.59. ⟨10.1186/1741-7015-11-59⟩
Journal articles inserm-00817083v1

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.
International Journal of Cancer, 2015, 137 (10), pp.2513-2519. ⟨10.1002/ijc.29612⟩
Journal articles hal-02353282v1

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.
International Journal of Cancer, 2017, 140 (7), pp.1653-1661. ⟨10.1002/ijc.30584⟩
Journal articles hal-02353187v1

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 of Alzheimer's Disease, 2018, 62 (2), pp.821-831. ⟨10.3233/JAD-170981⟩
Journal articles hal-02356252v1

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⟩
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.
Human Mutation, 2010, 31 (8), pp.961-965. ⟨10.1002/humu.21296⟩
Journal articles hal-00599468v1

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⟩
Journal articles hal-02356418v1

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 of Medical Genetics, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩
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.
BMC Medicine, 2012, 10 (1), pp.135. ⟨10.1186/1741-7015-10-135⟩
Journal articles inserm-00764322v1

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⟩
Journal articles hal-02356329v1

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.
Cancer Research, 2020, 80 (17), pp.3593-3605. ⟨10.1158/0008-5472.CAN-20-0895⟩
Journal articles hal-03597164v1

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.
Oncotarget, 2016, 7 (46), ⟨10.18632/oncotarget.12950⟩
Journal articles hal-02353218v1

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⟩
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.
BMC Cancer, 2013, 13 (1), pp.183. ⟨10.1186/1471-2407-13-183⟩
Journal articles inserm-00813520v1

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.
European Journal of Human Genetics, 2013, 22 (8), pp.979 - 987. ⟨10.1038/ejhg.2013.278⟩
Journal articles hal-01688120v1

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.
Clinica Chimica Acta, 2017, 472, pp.75-79. ⟨10.1016/j.cca.2017.07.015⟩
Journal articles hal-02353148v1

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.
Clinical Biochemistry, 2017, 50 (16-17), pp.963-966. ⟨10.1016/j.clinbiochem.2017.06.005⟩
Journal articles hal-02353154v1

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.
Digestive and Liver Disease, 2015, 47 (10), pp.884-890. ⟨10.1016/j.dld.2015.05.023⟩
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.
Cancer Medicine, 2015, 4 (10), pp.1484-1493. ⟨10.1002/cam4.492⟩
Journal articles hal-01259401v1

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

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.
American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩
Journal articles hal-02356422v1

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.
Leukemia & lymphoma, 2015, 57 (9), pp.2171-2179. ⟨10.3109/10428194.2016.1139703⟩
Journal articles hal-02353245v1

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⟩
Journal articles hal-02356003v1