Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Alice, Fiévet"'
Autor:
Damien Vasseur, Ahmadreza Arbab, Fabiola Giudici, Christophe Marzac, Stefan Michiels, Marco Tagliamento, Arnaud Bayle, Cristina Smolenschi, Madona Sakkal, Mihaela Aldea, Hela Sassi, Filippo Gustavo Dall’Olio, Noémie Pata-Merci, Sophie Cotteret, Alice Fiévet, Nathalie Auger, Luc Friboulet, Francesco Facchinetti, Arthur Géraud, Santiago Ponce, Antoine Hollebecque, Benjamin Besse, Jean Baptiste Micol, Antoine Italiano, Ludovic Lacroix, Etienne Rouleau
Publikováno v:
npj Precision Oncology, Vol 8, Iss 1, Pp 1-10 (2024)
Abstract Next-generation sequencing (NGS) assays based on plasma cell-free DNA (cfDNA) are increasingly used for clinical trials inclusion. Their optimized limit of detection applied to a large number of genes leads to the identification of mutations
Externí odkaz:
https://doaj.org/article/4130073b97594d488656afc4bdbd62db
Autor:
Manuel Rodrigues, Lenha Mobuchon, Alexandre Houy, Alice Fiévet, Sophie Gardrat, Raymond L. Barnhill, Tatiana Popova, Vincent Servois, Aurore Rampanou, Aurore Mouton, Stéphane Dayot, Virginie Raynal, Michèle Galut, Marc Putterman, Sarah Tick, Nathalie Cassoux, Sergio Roman-Roman, François-Clément Bidard, Olivier Lantz, Pascale Mariani, Sophie Piperno-Neumann, Marc-Henri Stern
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-6 (2018)
Hypermutated tumors respond more favorably to checkpoint inhibitor-based immune therapy. Here, the authors describe a new hypermutated phenotype due to germline mutations and subsequent somatic loss of heterozygosity of MBD4, and a dramatic response
Externí odkaz:
https://doaj.org/article/8fccadcc7b9941bfb571d95d895a4f6b
Autor:
Alexandra Martins, Shyam K. Sharan, Pascaline Gaildrat, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Angela R. Solano, Laurence Venat-Bouvet, Chrystelle Colas, Séverine Audebert-Bellanger, Fátima Vaz, Pascal Pujol, Danièle Muller, Hélène Larbre, Violaine Bourdon, Françoise Bonnet-Dorion, Myriam Vezain, Daniela Di Giacomo, Aurélie Drouet, Omar Soukarieh, Eileen Southon, Susan Reid, Linda Cleveland, Marine Guillaud-Bataille, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Françoise Révillion, Laëtitia Meulemans, Alice Fiévet, Gaia Castelain, Julie Hauchard, Virginie Caux-Moncoutier, Sophie Krieger, Julie Rondeaux, Teresa Sullivan, Sandrine M. Caputo, Hélène Tubeuf
Supp Tables S1-S6 (including variant classification, bioinformatics predictions versus experimental data, primer sequences, summary of biological, clinical, tumoral, familial and multifactorial data, and description of statistical analysis approaches
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b0332a1ad78e42684beaf0be96661f
https://doi.org/10.1158/0008-5472.22426135.v1
https://doi.org/10.1158/0008-5472.22426135.v1
Autor:
Alexandra Martins, Shyam K. Sharan, Pascaline Gaildrat, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Angela R. Solano, Laurence Venat-Bouvet, Chrystelle Colas, Séverine Audebert-Bellanger, Fátima Vaz, Pascal Pujol, Danièle Muller, Hélène Larbre, Violaine Bourdon, Françoise Bonnet-Dorion, Myriam Vezain, Daniela Di Giacomo, Aurélie Drouet, Omar Soukarieh, Eileen Southon, Susan Reid, Linda Cleveland, Marine Guillaud-Bataille, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Françoise Révillion, Laëtitia Meulemans, Alice Fiévet, Gaia Castelain, Julie Hauchard, Virginie Caux-Moncoutier, Sophie Krieger, Julie Rondeaux, Teresa Sullivan, Sandrine M. Caputo, Hélène Tubeuf
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 VUS, those causing partial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276434d538529130aa9d7a58debca642
https://doi.org/10.1158/0008-5472.c.6512242.v1
https://doi.org/10.1158/0008-5472.c.6512242.v1
Autor:
Alice Fiévet, Guillaume Rieunier, Catherine Dubois d'Enghien, Marc-Henri Stern, Laila Zahed, Jean-Michel Pedespan, Dominique Stoppa-Lyonnet, Lydie Burglen, James Lespinasse, Dorine Bellanger, Béatrice Parfait, Anne-Céline Derrien
Publikováno v:
Human Mutation. 41:608-618
Nijmegen breakage syndrome caused by biallelic pathogenic variants of the DNA-damage response gene NBN, is characterized by severe microcephaly, cancer proneness, infertility, and karyotype abnormalities. We previously reported NBN variants in siblin
Autor:
Marie-Noëlle Bonnet-Dupeyron, Helene Dreyfus, Nadia Boutry-Kryza, Cornel Popovici, Laurent Castera, Nancy Uhrhammer, Anthony Laugé, Yves-Jean Bignon, Hélène Delhomelle, Alice Fiévet, Christophe Guy, Noémie Bronnec, Bruno Buecher, Fabienne Prieur, Sophie Demontety, Vincent Goussot, Emmanuelle Mouret-Fourme, Claire Saule, Helene Zattara, Sarah Malsa, Paul Gesta, Cindy Meira, Erell Guillerm, Isabelle Turbiez, Agathe Ricou, Mélanie Léoné, Pierre Vande Perre, Sarab Lizard, Pascaline Berthet, Norbert Lignon, Adrien Buisson, Anne-Marie Birot, Philippe Denizeau, Etienne Rouleau, Odile Cohen-Haguenauer, Veronica Goldbarg, Virginie Moncoutier, Charlotte Benigni, Emmanuelle Barouk-Simonet, Flavie Boulouard, Caroline Jacquot-Sawka, Alice Yvard, Hakima Lallaoui, Veronica Cusin, Angélina Legros, Muriel Belotti, Christine Maugard, Marine Guillaud-Bataille, Jean-Marc Limacher, Marion Gauthier-Villars, Louise Crivelli, Afane Brahimi, Odile Cabaret, Ophelie Bertrand, Michel Longy, Gabrielle Le Guyadec, Doriane Livon, Amelie Bloucard, Dominique Stoppa-Lyonnet, Capucine Delnatte, Caroline Lecerf, Jennifer Carriere, Virginie Guibert, Véronique Mari, Anne-Sophie Allary, Florence Coulet, Françoise Bonnet, Paul Vilquin, Noémie Basset, Khadija Abidallah, Pierre Macquere, Nicolas Derive, Manon Boulaire, Stephanie Chieze-Valéro, Marine Le Mentec, Mathilde Gay-Bellile, Anne-Laure Conoy, Henri Margot, Pierre Devulder, Mathias Schwartz, Isabelle Tennevet, Stéphane Bézieau, Francesca Damiola, Violaine Bourdon, Audrey Mailliez, Zoe Nevière, Nicolas Viellard, Laurence Venat, Antoine De Pauw, Brigitte Bressac-de Paillerets, Agnès Hardouin, Sofiane Lacoste, Sandra Fert-Ferrer, Maud Privat, Helene Larbre, Dominique Vaur, Etienne Muller, Françoise Revillion, Clémentine Legrand, Rosette Lidereau, Laurence Gladieff, Sabine Raad, Jean Chiesa, Diane Molière, Ahmed Bouras, Nicolas Sevenet, Patrick R. Benusiglio, Sophie Giraud, Christine Toulas, Voreak Suybeng, Florine Oca, Tetsuro Noguchi, Catherine Dehainault, Sophie Lejeune, Céline Heude, Catherine Dubois d’Enghein, Thien-vu Nguyen Minh Tuan, Olivier Caron, Mathilde Warcoin, Christine Lasset, Claude Houdayer, Jessica Moretta-Serra, Julie Tinat, Hagay Sobol, Natalie Jones, Fanny Brayotel, Anne Fajac, Virginie Bubien, Maud Blanluet, Jean-Marc Rey, Anne Durlach, Sandrine M. Caputo, Isabelle Coupier, Fatoumata Simaga, Sophie Krieger, Catherine Noguès, Fabrice Airaud, Robin Fouillet, Celine Garrec, Valérie Bonadona, Julie Menjard, Bérengère Legendre, Chrystelle Colas, Christelle Berthemin, Camille Cohen, Caroline Abadie, Olivier Ingster, Audrey Remenieras, Anaïs Dupré, Jessica Le Gall, Lisa Golmard, Marie Bidart, Henrique Tenreiro, J Bombled, Marie-Charlotte Villy, Marie-Agnès Collonge-Rame, Sophie Dussart, Alain Lortholary, Lucie Salle, Samira Fekairi
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We r
Autor:
Sana Intidhar Labidi-Galy, Manuel Rodrigues, Jose L. Sandoval, Jean Emmanuel Kurtz, Florian Heitz, Anna Maria Mosconi, Ignacio Romero, Regina Berger, Shoji Nagao, Ignace Vergote, Gabriella Parma, Trine Jakobi Nøttrup, Etienne Rouleau, Georges Garnier, Ahmed El-Balat, Claudio Zamagni, Cristina Martín-Lorente, Eric Pujade-Lauraine, Alice Fiévet, Isabelle Laure Ray-Coquard
Publikováno v:
Journal of Clinical Oncology. 40:5571-5571
5571 Background: In the Phase III PAOLA-1/ENGOT-ov25 trial, the addition of maintenance olaparib (ola) to bevacizumab (bev) in patients (pts) with newly diagnosed advanced high-grade ovarian cancer (HGOC) resulted in prolonged progression-free surviv
Autor:
Gaia Castelain, Capucine Delnatte, Pascaline Gaildrat, Myriam Vezain, Laëtitia Meulemans, Nadia Boutry-Kryza, Teresa Sullivan, Dominique Stoppa-Lyonnet, Julie Hauchard, Pascal Pujol, Thierry Frebourg, Séverine Audebert-Bellanger, Daniela Di Giacomo, Danièle Muller, Aurélie Drouet, Hélène Tubeuf, Susan W. Reid, Julie Rondeaux, Mélanie Léoné, Violaine Bourdon, Françoise Bonnet-Dorion, Françoise Révillion, Hélène Larbre, Shyam K. Sharan, Omar Soukarieh, Sandrine M. Caputo, Alice Fiévet, Laurence Venat-Bouvet, Virginie Caux-Moncoutier, Alexandra Martins, Fátima Vaz, Angela R. Solano, Claude Houdayer, Eileen Southon, Chrystelle Colas, Marine Guillaud-Bataille, Linda Cleveland, Sophie Krieger
Publikováno v:
Cancer Res
Cancer Research
Cancer Research, 2020, 80 (17), pp.3593-3605. ⟨10.1158/0008-5472.CAN-20-0895⟩
Cancer Research
Cancer Research, 2020, 80 (17), pp.3593-3605. ⟨10.1158/0008-5472.CAN-20-0895⟩
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 VUS, those causing partial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f68c10d8df37aff88dc3d1287374cd2
https://europepmc.org/articles/PMC7484206/
https://europepmc.org/articles/PMC7484206/
Autor:
Claude Houdayer, Yves Reguerre, Paul Fréneaux, P. Philippe-Chomette, Marion Gauthier-Villars, Alice Fiévet, Sylvie Helfre, Cindy Fayard, Lisa Golmard, Daniel Orbach, Sabine Sarnacki
Publikováno v:
Revue d'Oncologie Hématologie Pédiatrique. 4:226-236
Resume La decouverte recente des alterations du gene DICER1 a permis de les rattacher a un large spectre de maladies pouvant survenir dans les familles dont les membres sont porteurs d’une mutation inactivatrice de ce gene au niveau constitutionnel
Autor:
Bart P.C. van de Warrenburg, Christoph Schrader, Nienke J H van Os, Detlev Schindler, Thilo Dörk, Nel Roeleveld, Michèl A.A.P. Willemsen, Corry M.R. Weemaes, Marcel van Deuren, Alex M. Taylor, Nizar Mahlaoui, Luciana Chessa, Judith van Gaalen, Alice Fiévet
Publikováno v:
Journal of Medical Genetics, 56, 308-316
Journal of Medical Genetics, 56, 5, pp. 308-316
Journal of Medical Genetics, 56, 5, pp. 308-316
BackgroundAtaxia telangiectasia (A-T) is a neurodegenerative disorder. While patients with classic A-T generally die in their 20s, some patients with variant A-T, who have residual ataxia-telangiectasia mutated (ATM) kinase activity, have a milder ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::688bc771928c813542d26fe40728d6f1
http://hdl.handle.net/2066/203873
http://hdl.handle.net/2066/203873