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Journal articles34 documents

  • Olivier Quenez, Kevin Cassinari, Sophie Coutant, Francois Lecoquierre, Kilan Le Guennec, et al.. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩. ⟨hal-02883904⟩
  • Morgane Pondrom, Gaëlle Bougeard, Marie Karanian, Jacynthe Bonneau-Lagacherie, Cecile Boulanger, et al.. Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience. Pediatric Blood and Cancer, Wiley, 2020, 67 (9), pp.e28486. ⟨10.1002/pbc.28486⟩. ⟨hal-03106844⟩
  • Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure, Raphaël Lanos, et al.. Blood functional assay for rapid clinical interpretation of germline TP53 variants. Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2020-107059. ⟨10.1136/jmedgenet-2020-107059⟩. ⟨hal-03106841⟩
  • Qing Wang, Julie Leclerc, Gaëlle Bougeard, Sylviane Olschwang, Stéphanie Vasseur, et al.. Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome. Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩. ⟨hal-02460716⟩
  • Mariette Renaux-Petel, Francoise Charbonnier, Jean-Christophe Thery, Pierre Fermey, Gwendoline Lienard, et al.. Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. Journal of Medical Genetics, BMJ Publishing Group, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩. ⟨hal-02355680⟩
  • Anne-Claire Bréhin, Sophie Patrier-Sallebert, Gaëlle Bougeard, Gwendoline Side-Pfennig, Francisco Llamas Gutierrez, et al.. Gestational choriocarcinoma associated with a germline TP53 mutation. Familial Cancer, Springer Verlag (Germany), 2018, 17 (1), pp.113-117. ⟨10.1007/s10689-017-9996-7⟩. ⟨hal-02356003⟩
  • Stéphanie Baert-Desurmont, Sophie Coutant, Francoise Charbonnier, Pierre Macquère, François Lecoquierre, et al.. Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes. European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩. ⟨hal-02355649⟩
  • Edwige Kasper, Émilie Angot, Elodie Colasse, Lionel Nicol, Jean-Christophe Sabourin, et al.. Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations. European Journal of Cancer, Elsevier, 2018, 101, pp.254-262. ⟨10.1016/j.ejca.2018.06.011⟩. ⟨hal-02375757⟩
  • Abdelkader Heddar, Pierre Fermey, Sophie Coutant, Émilie Angot, Jean-Christophe Sabourin, et al.. Familial solitary chondrosarcoma resulting from germline EXT2 mutation.. Genes, Chromosomes and Cancer, Wiley, 2017, 56 (2), pp.128-134. ⟨10.1002/gcc.22419⟩. ⟨hal-02356324⟩
  • Oriol Calvete, Pablo Garcia-Pavia, Fernando Domínguez, Gaëlle Bougeard, Kristin Kunze, et al.. The wide spectrum of POT1 gene variants correlates with multiple cancer types. European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (11), pp.1278-1281. ⟨10.1038/ejhg.2017.134⟩. ⟨hal-02355695⟩
  • yasmine Zerdoumi, Raphaël Lanos, Sabine Raad, Jean-Michel Flaman, Gaëlle Bougeard, et al.. Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (14), pp.2591-2602. ⟨10.1093/hmg/ddx165⟩. ⟨hal-02356269⟩
  • Fanélie Jouenne, Isaure Chauvot de Beauchêne, Emeline Bollaert, Marie-Francoise Avril, Olivier Caron, et al.. Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma. Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (9), pp.607-612. ⟨10.1136/jmedgenet-2016-104402⟩. ⟨hal-01580787⟩
  • Aurélia Nguyen, Gaëlle Bougeard, Mériam Koob, Marie Pierre Chenard, Anne Schneider, et al.. MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation. Familial Cancer, Springer Verlag (Germany), 2016, 15 (4), pp.571-577. ⟨10.1007/s10689-016-9894-4⟩. ⟨hal-02356387⟩
  • Gaëlle Bougeard, Mariette Renaux-Petel, Jean-Michel Flaman, Camille Charbonnier, Pierre Fermey, et al.. Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. Journal of Clinical Oncology, American Society of Clinical Oncology, 2015, 33 (21), pp.2345-2352. ⟨10.1200/JCO.2014.59.5728⟩. ⟨hal-02356329⟩
  • Sophie Patrier-Sallebert, Gaëlle Bougeard, Stéphanie Baert-Desurmont, Aude Lamy, Jean-Michel Flaman, et al.. Transmission of germline TP53 mutations from male carriers to female partners. Journal of Medical Genetics, BMJ Publishing Group, 2015, 52 (3), pp.145-146. ⟨10.1136/jmedgenet-2014-102853⟩. ⟨hal-02356418⟩
  • Beng Hooi Phang, Rashidah Othman, Gaëlle Bougeard, Ren Hui Chia, Thierry Frébourg, et al.. Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis. Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2015, 112 (46), pp.E6349-E6358. ⟨10.1073/pnas.1510043112⟩. ⟨hal-02356393⟩
  • N Lavoine, C. Colas, M Muleris, S Bodo, A. Duval, et al.. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. Journal of Medical Genetics, BMJ Publishing Group, 2015, 52 (11), pp.770-778. ⟨10.1136/jmedgenet-2015-103299⟩. ⟨hal-02356405⟩
  • yasmine Zerdoumi, Edwige Kasper, Flavie Soubigou, S. Adriouch, Gaëlle Bougeard, et al.. A new genotoxicity assay based on p53 target gene induction. Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 2015, 789-790, pp.28-35. ⟨10.1016/j.mrgentox.2015.05.010⟩. ⟨hal-02356415⟩
  • Oriol Calvete, Paula Martinez, Pablo Garcia-Pavia, Carlos Benitez-Buelga, Beatriz Paumard-Hernández, et al.. A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families. Nature Communications, Nature Publishing Group, 2015, 6 (1), ⟨10.1038/ncomms9383⟩. ⟨hal-02356340⟩
  • Gaëlle Bougeard, Laurence Olivier-Faivre, Stéphanie Baert-Desurmont, Julie Tinat, Cosette Martin, et al.. Diversity of the clinical presentation of the MMR gene biallelic mutations. Familial Cancer, Springer Verlag (Germany), 2014, 13 (1), pp.131-135. ⟨10.1007/s10689-013-9676-1⟩. ⟨hal-03106912⟩
  • Mariette Renaux-Petel, Richard Sesboüé, Stéphanie Baert-Desurmont, Stéphanie Vasseur, Steeve Fourneaux, et al.. The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome. Familial Cancer, Springer Verlag (Germany), 2014, 13 (1), pp.127-130. ⟨10.1007/s10689-013-9667-2⟩. ⟨hal-03106914⟩
  • Isabelle Tournier, Régine Marlin, Kelly Walton, Francoise Charbonnier, Sophie Coutant, et al.. Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors. Human Mutation, Wiley, 2014, 35 (3), pp.294-297. ⟨10.1002/humu.22489⟩. ⟨hal-02375836⟩
  • yasmine Zerdoumi, Juliette Aury-Landas, Catherine Bonaïti-Pellié, Céline Derambure, Richard Sesboüe, et al.. Drastic Effect of Germline TP53 Missense Mutations in Li-Fraumeni Patients. Human Mutation, Wiley, 2013, 34 (3), pp.453-461. ⟨10.1002/humu.22254⟩. ⟨hal-02329548⟩
  • Juliette Aury-Landas, Gaëlle Bougeard, Hélène Castel, Hector Hernandez-Vargas, Aurélie Drouet, et al.. Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (12), pp.1369-1376. ⟨10.1038/ejhg.2013.68⟩. ⟨hal-02281655⟩
  • A. Oden-Gangloff, F. Di Fiore, Frédéric Bibeau, A. Lamy, Gaëlle Bougeard, et al.. TP53 mutations predict disease control in metastatic colorectal cancer treated with cetuximab-based chemotherapy. British Journal of Cancer, Cancer Research UK, 2009, 100 (8), pp.1330-1335. ⟨10.1038/sj.bjc.6605008⟩. ⟨hal-03106923⟩
  • Gaëlle Bougeard, R. Sesboue, S Baert-Desurmont, S Vasseur, C. Martin, et al.. Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. Journal of Medical Genetics, BMJ Publishing Group, 2008, 45 (8), pp.535-538. ⟨10.1136/jmg.2008.057570⟩. ⟨hal-03106929⟩
  • Gurinder Singh Atwal, Raúl Rabadán, Guillermina Lozano, Louise Strong, Mariëlle Ruijs, et al.. An Information-Theoretic Analysis of Genetics, Gender and Age in Cancer Patients. PLoS ONE, Public Library of Science, 2008, 3 (4), pp.e1951. ⟨10.1371/journal.pone.0001951⟩. ⟨hal-03106931⟩
  • Gaëlle Bougeard, Stéphanie Baert-Desurmont, Isabelle Tournier, Sophie Vasseur, Cosette Martin, et al.. Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.. Journal of Medical Genetics, BMJ Publishing Group, 2006, 43 (6), pp.531-3. ⟨10.1136/jmg.2005.037952⟩. ⟨inserm-00128004⟩
  • Sarah Bradley, Katherine Oravecz-Wilson, Gaëlle Bougeard, Ikuko Mizukami, Lina Li, et al.. Serum Antibodies to Huntingtin Interacting Protein-1: A New Blood Test for Prostate Cancer. Cancer Research, American Association for Cancer Research, 2005, 65 (10), pp.4126-4133. ⟨10.1158/0008-5472.CAN-04-4658⟩. ⟨hal-03106938⟩
  • Audrey Killian, Nathalie Le Meur, Richard Sesboüé, Jeannette Bourguignon, Gaëlle Bougeard, et al.. Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability. Oncogene, Nature Publishing Group, 2004, 23 (53), pp.8597-8602. ⟨10.1038/sj.onc.1207845⟩. ⟨hal-03106941⟩
  • Gaëlle Bougeard, Smail Hadj-Rabia, Laurence Faivre, Nasrin Sarafan-Vasseur, Thierry Frebourg. The Rapp–Hodgkin syndrome results from mutations of the TP63 gene. European Journal of Human Genetics, Nature Publishing Group, 2003, 11 (9), pp.700-704. ⟨10.1038/sj.ejhg.5201004⟩. ⟨hal-03106944⟩
  • Gaëlle Bougeard, Laurence Brugieres, Agnes Chompret, Paul Gesta, Francoise Charbonnier, et al.. Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene, Nature Publishing Group, 2003, 22 (6), pp.840-846. ⟨10.1038/sj.onc.1206155⟩. ⟨hal-03106947⟩
  • Gaëlle Bougeard, J Limacher, C. Martin, F. Charbonnier, A. Killian, et al.. 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. Journal of Medical Genetics, BMJ Publishing Group, 2001, 38 (4), pp.253-257. ⟨10.1136/jmg.38.4.253⟩. ⟨hal-03106956⟩
  • Jeanne Amiel, Gaëlle Bougeard, Christine Francannet, Valérie Raclin, Arnold Munnich, et al.. TP63 gene mutation in ADULT syndrome. European Journal of Human Genetics, Nature Publishing Group, 2001, 9 (8), pp.642-645. ⟨10.1038/sj.ejhg.5200676⟩. ⟨hal-03106954⟩

Book sections1 document

  • Gaëlle Bougeard, Thierry Frebourg. Syndrome de Li-Fraumeni. Epidémiologie des cancers de l'enfant, 2009. ⟨hal-03107078⟩

Preprints, Working Papers, ...1 document

  • Olivier Quenez, Kevin Cassinari, Sophie Coutant, Francois Lecoquierre, Kilan Le Guennec, et al.. Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation. 2019. ⟨hal-02317979v2⟩