Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer

por Levacher, Corentin, Viennot, Mathieu, Drouet, Aurélie, Beaussire, Ludivine, Coutant, Sophie, Théry, Jean-Christophe, Baert-Desurmont, Stéphanie, Laé, Marick, Ruminy, Philippe, Houdayer, Claude
Publicado 2023

EPID-04. PREDCAP, the French registry of predisposition to pediatric cancers

por Guerrini-Rousseau, Lea, Hoarau, Pauline, Bougeard, Gaelle, Golmard, Lisa, Colas, Chrystelle, Gauthier-Villars, Marion, Houdayer, Claude, Frebourg, Thierry, Bourdeaut, Franck, Brugieres, Laurence
Publicado 2022

Genome wide SNP comparative analysis between EGFR and KRAS mutated NSCLC and characterization of two models of oncogenic cooperation in non-small cell lung carcinoma

por Blons, Hélène, Pallier, Karine, Le Corre, Delphine, Danel, Claire, Tremblay-Gravel, Maxime, Houdayer, Claude, Fabre-Guillevin, Elizabeth, Riquet, Marc, Dessen, Philippe, Laurent-Puig, Pierre
Publicado 2008

Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

por Imbert‐Bouteille, Marion, Gauthier‐Villars, Marion, Leroux, Dominique, Meunier, Isabelle, Aerts, Isabelle, Lumbroso‐Le Rouic, Livia, Lejeune, Sophie, Delnatte, Capucine, Abadie, Caroline, Pujol, Pascal, Houdayer, Claude, Corsini, Carole
Publicado 2019

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

por Eloy, Philippine, Dehainault, Catherine, Sefta, Meriem, Aerts, Isabelle, Doz, François, Cassoux, Nathalie, Lumbroso le Rouic, Livia, Stoppa-Lyonnet, Dominique, Radvanyi, François, Millot, Gaël A., Gauthier-Villars, Marion, Houdayer, Claude
Publicado 2016

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

por Thouvenot, Pierre, Ben Yamin, Barbara, Fourrière, Lou, Lescure, Aurianne, Boudier, Thomas, Del Nery, Elaine, Chauchereau, Anne, Goldgar, David E., Houdayer, Claude, Stoppa-Lyonnet, Dominique, Nicolas, Alain, Millot, Gaël A.
Publicado 2016

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

por Goldenberg, Alice, Marguet, Florent, Gilard, Vianney, Cardine, Aude-Marie, Hassani, Adnan, Doz, François, Radi, Sophie, Vasseur, Stéphanie, Bou, Jacqueline, Branchaud, Maud, Houdayer, Claude, Baert-Desurmont, Stéphanie, Laquerriere, Annie, Frebourg, Thierry
Publicado 2019

Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes

por Gelsi-Boyer, Véronique, Trouplin, Virginie, Adélaïde, José, Aceto, Nicola, Remy, Virginie, Pinson, Stephane, Houdayer, Claude, Arnoulet, Christine, Sainty, Danielle, Bentires-Alj, Mohamed, Olschwang, Sylviane, Vey, Norbert, Mozziconacci, Marie-Joëlle, Birnbaum, Daniel, Chaffanet, Max
Publicado 2008

Germline mutation in the RAD51B gene confers predisposition to breast cancer

por Golmard, Lisa, Caux-Moncoutier, Virginie, Davy, Grégoire, Al Ageeli, Essam, Poirot, Brigitte, Tirapo, Carole, Michaux, Dorothée, Barbaroux, Catherine, d’Enghien, Catherine Dubois, Nicolas, André, Castéra, Laurent, Sastre-Garau, Xavier, Stern, Marc-Henri, Houdayer, Claude, Stoppa-Lyonnet, Dominique
Publicado 2013

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

por Walker, Logan C., Lattimore, Vanessa Lilian, Kvist, Anders, Kleiblova, Petra, Zemankova, Petra, de Jong, Lucy, Wiggins, George A. R., Hakkaart, Christopher, Cree, Simone L., Behar, Raquel, Houdayer, Claude, Investigators, kConFab, Parsons, Michael T., Kennedy, Martin A., Spurdle, Amanda B., de la Hoya, Miguel
Publicado 2019

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

por Toland, Amanda Ewart, Forman, Andrea, Couch, Fergus J., Culver, Julie O., Eccles, Diana M., Foulkes, William D., Hogervorst, Frans B. L., Houdayer, Claude, Levy-Lahad, Ephrat, Monteiro, Alvaro N., Neuhausen, Susan L., Plon, Sharon E., Sharan, Shyam K., Spurdle, Amanda B., Szabo, Csilla, Brody, Lawrence C.
Publicado 2018

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

por Caputo, Sandrine M., Telly, Dominique, Briaux, Adrien, Sesen, Julie, Ceppi, Maurizio, Bonnet, Françoise, Bourdon, Violaine, Coulet, Florence, Castera, Laurent, Delnatte, Capucine, Hardouin, Agnès, Mazoyer, Sylvie, Schultz, Inès, Sevenet, Nicolas, Uhrhammer, Nancy, Bonnet, Céline, Tilkin-Mariamé, Anne-Françoise, Houdayer, Claude, Moncoutier, Virginie, Andrieu, Catherine, Bièche, Ivan, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Lidereau, Rosette, Toulas, Christine, Rouleau, Etienne
Publicado 2021

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

por Leman, Raphaël, Tubeuf, Hélène, Raad, Sabine, Tournier, Isabelle, Derambure, Céline, Lanos, Raphaël, Gaildrat, Pascaline, Castelain, Gaia, Hauchard, Julie, Killian, Audrey, Baert-Desurmont, Stéphanie, Legros, Angelina, Goardon, Nicolas, Quesnelle, Céline, Ricou, Agathe, Castera, Laurent, Vaur, Dominique, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Boutry-Kryza, Nadia, Schultz, Inès, Caux-Moncoutier, Virginie, Rossing, Maria, Walker, Logan C., Spurdle, Amanda B., Houdayer, Claude, Martins, Alexandra, Krieger, Sophie
Publicado 2020

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

por Caputo, Sandrine M., Léone, Mélanie, Damiola, Francesca, Ehlen, Asa, Carreira, Aura, Gaidrat, Pascaline, Martins, Alexandra, Brandão, Rita D., Peixoto, Ana, Vega, Ana, Houdayer, Claude, Delnatte, Capucine, Bronner, Myriam, Muller, Danièle, Castera, Laurent, Guillaud-Bataille, Marine, Søkilde, Inge, Uhrhammer, Nancy, Demontety, Sophie, Tubeuf, Hélène, Castelain, Gaïa, Jensen, Uffe Birk, Petitalot, Ambre, Krieger, Sophie, Lefol, Cédrick, Moncoutier, Virginie, Boutry-Kryza, Nadia, Nielsen, Henriette Roed, Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Spurdle, Amanda B., Teixeira, Manuel R., Coulet, Florence, Thomassen, Mads, Rouleau, Etienne
Publicado 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Publicado 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Paillerets, Brigitte Bressac-de, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Publicado 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Publicado 2020

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

por Lesueur, Fabienne, Mebirouk, Noura, Jiao, Yue, Barjhoux, Laure, Belotti, Muriel, Laurent, Maïté, Léone, Mélanie, Houdayer, Claude, Bressac-de Paillerets, Brigitte, Vaur, Dominique, Sobol, Hagay, Noguès, Catherine, Longy, Michel, Mortemousque, Isabelle, Fert-Ferrer, Sandra, Mouret-Fourme, Emmanuelle, Pujol, Pascal, Venat-Bouvet, Laurence, Bignon, Yves-Jean, Leroux, Dominique, Coupier, Isabelle, Berthet, Pascaline, Mari, Véronique, Delnatte, Capucine, Gesta, Paul, Collonge-Rame, Marie-Agnès, Giraud, Sophie, Bonadona, Valérie, Baurand, Amandine, Faivre, Laurence, Buecher, Bruno, Lasset, Christine, Gauthier-Villars, Marion, Damiola, Francesca, Mazoyer, Sylvie, Caputo, Sandrine M., Andrieu, Nadine, Stoppa-Lyonnet, Dominique
Publicado 2018

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

por Lesueur, Fabienne, Eon-Marchais, Séverine, Bonnet-Boissinot, Sarah, Beauvallet, Juana, Dondon, Marie-Gabrielle, Golmard, Lisa, Rouleau, Etienne, Garrec, Céline, Martinez, Mathilde, Toulas, Christine, Nguyen, Tan Dat, Brayotel, Fanny, Crivelli, Louise, Maugard, Christine M., Bubien, Virginie, Sevenet, Nicolas, Gesta, Paul, Chieze-Valero, Stéphanie, Nambot, Sophie, Goussot, Vincent, Mari, Véronique, Popovici, Cornel, Prieur, Fabienne, Morin-Meschin, Marie-Emmanuelle, Tinat, Julie, Lortholary, Alain, Dreyfus, Hélène, Bidart, Marie, Collonge-Rame, Marie-Agnès, Mozelle-Nivoix, Monique, Gladieff, Laurence, Giraud, Sophie, Boutry-Kryza, Nadia, Chiesa, Jean, Denizeau, Philippe, Bignon, Yves-Jean, Uhrhammer, Nancy, Cohen-Haguenauer, Odile, Vilquin, Paul, Mailliez, Audrey, Coupier, Isabelle, Rey, Jean-Marc, Lacaze, Elodie, Béra, Odile, Colas, Chrystelle, Coulet, Florence, Delnatte, Capucine, Houdayer, Claude, Lasset, Christine, Lemonnier, Jérôme, Longy, Michel, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Vaur, Dominique, Andrieu, Nadine, Caron, Olivier
Publicado 2021

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

por Liu, Jing, Ottaviani, Daniela, Sefta, Meriem, Desbrousses, Céline, Chapeaublanc, Elodie, Aschero, Rosario, Sirab, Nanor, Lubieniecki, Fabiana, Lamas, Gabriela, Tonon, Laurie, Dehainault, Catherine, Hua, Clément, Fréneaux, Paul, Reichman, Sacha, Karboul, Narjesse, Biton, Anne, Mirabal-Ortega, Liliana, Larcher, Magalie, Brulard, Céline, Arrufat, Sandrine, Nicolas, André, Elarouci, Nabila, Popova, Tatiana, Némati, Fariba, Decaudin, Didier, Gentien, David, Baulande, Sylvain, Mariani, Odette, Dufour, Florent, Guibert, Sylvain, Vallot, Céline, Rouic, Livia Lumbroso-Le, Matet, Alexandre, Desjardins, Laurence, Pascual-Pasto, Guillem, Suñol, Mariona, Catala-Mora, Jaume, Llano, Genoveva Correa, Couturier, Jérôme, Barillot, Emmanuel, Schaiquevich, Paula, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Golmard, Lisa, Houdayer, Claude, Brisse, Hervé, Bernard-Pierrot, Isabelle, Letouzé, Eric, Viari, Alain, Saule, Simon, Sastre-Garau, Xavier, Doz, François, Carcaboso, Angel M., Cassoux, Nathalie, Pouponnot, Celio, Goureau, Olivier, Chantada, Guillermo, de Reyniès, Aurélien, Aerts, Isabelle, Radvanyi, François
Publicado 2021