Retinoblastoma

por Aerts, Isabelle, Lumbroso-Le Rouic, Livia, Gauthier-Villars, Marion, Brisse, Hervé, Doz, François, Desjardins, Laurence
Publicado 2006

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

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations

por Julian-Reynier, Claire, Mancini, Julien, Mouret-Fourme, Emmanuelle, Gauthier-Villars, Marion, Bonadona, Valérie, Berthet, Pascaline, Fricker, Jean-Pierre, Caron, Olivier, Luporsi, Elisabeth, Noguès, Catherine
Publicado 2011

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

Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

por Blein, Sophie, Barjhoux, Laure, Damiola, Francesca, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Marcou, Morgane, Caron, Olivier, Lortholary, Alain, Buecher, Bruno, Vennin, Philippe, Berthet, Pascaline, Noguès, Catherine, Lasset, Christine, Gauthier-Villars, Marion, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Thomas, Gilles, Sinilnikova, Olga M., Cox, David G.
Publicado 2015

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier c...

por Lecarpentier, Julie, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Gauthier-Villars, Marion, Lasset, Christine, Fricker, Jean-Pierre, Caron, Olivier, Stoppa-Lyonnet, Dominique, Berthet, Pascaline, Faivre, Laurence, Bonadona, Valérie, Buecher, Bruno, Coupier, Isabelle, Gladieff, Laurence, Gesta, Paul, Eisinger, François, Frénay, Marc, Luporsi, Elisabeth, Lortholary, Alain, Colas, Chrystelle, Dugast, Catherine, Longy, Michel, Pujol, Pascal, Tinat, Julie, Lidereau, Rosette, Andrieu, Nadine
Publicado 2012

Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK)

por Pijpe, Anouk, Andrieu, Nadine, Easton, Douglas F, Kesminiene, Ausrele, Cardis, Elisabeth, Noguès, Catherine, Gauthier-Villars, Marion, Lasset, Christine, Fricker, Jean-Pierre, Peock, Susan, Frost, Debra, Evans, D Gareth, Eeles, Rosalind A, Paterson, Joan, Manders, Peggy, van Asperen, Christi J, Ausems, Margreet G E M, Meijers-Heijboer, Hanne, Thierry-Chef, Isabelle, Hauptmann, Michael, Goldgar, David, Rookus, Matti A, van Leeuwen, Flora E
Publicado 2012

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

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

por Maia, Ana-Teresa, Antoniou, Antonis C, O'Reilly, Martin, Samarajiwa, Shamith, Dunning, Mark, Kartsonaki, Christiana, Chin, Suet-Feung, Curtis, Christina N, McGuffog, Lesley, Domchek, Susan M, Easton, Douglas F, Peock, Susan, Frost, Debra, Evans, D Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Eccles, Diana, Sinilnikova, Olga M, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Faivre, Laurence, Venat-Bouvet, Laurence, Delnatte, Capucine, Nevanlinna, Heli, Couch, Fergus J, Godwin, Andrew K, Caligo, Maria Adelaide, Barkardottir, Rosa B, Chen, Xiaoqing, Beesley, Jonathan, Healey, Sue, Caldas, Carlos, Chenevix-Trench, Georgia, Ponder, Bruce AJ
Publicado 2012

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

por Renault, Anne-Laure, Mebirouk, Noura, Fuhrmann, Laetitia, Bataillon, Guillaume, Cavaciuti, Eve, Le Gal, Dorothée, Girard, Elodie, Popova, Tatiana, La Rosa, Philippe, Beauvallet, Juana, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, d’Enghien, Catherine Dubois, Laugé, Anthony, Chemlali, Walid, Raynal, Virginie, Labbé, Martine, Bièche, Ivan, Baulande, Sylvain, Bay, Jacques-Olivier, Berthet, Pascaline, Caron, Olivier, Buecher, Bruno, Faivre, Laurence, Fresnay, Marc, Gauthier-Villars, Marion, Gesta, Paul, Janin, Nicolas, Lejeune, Sophie, Maugard, Christine, Moutton, Sébastien, Venat-Bouvet, Laurence, Zattara, Hélène, Fricker, Jean-Pierre, Gladieff, Laurence, Coupier, Isabelle, Chenevix-Trench, Georgia, Hall, Janet, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne
Publicado 2018

Gene‐ and pathway‐level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility

por Lonjou, Christine, Eon‐Marchais, Séverine, Truong, Thérèse, Dondon, Marie‐Gabrielle, Karimi, Mojgan, Jiao, Yue, Damiola, Francesca, Barjhoux, Laure, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Cavaciuti, Eve, Chiesa, Jean, Floquet, Anne, Audebert‐Bellanger, Séverine, Giraud, Sophie, Frebourg, Thierry, Limacher, Jean‐Marc, Gladieff, Laurence, Mortemousque, Isabelle, Dreyfus, Hélène, Lejeune‐Dumoulin, Sophie, Lasset, Christine, Venat‐Bouvet, Laurence, Bignon, Yves‐Jean, Pujol, Pascal, Maugard, Christine M., Luporsi, Elisabeth, Bonadona, Valérie, Noguès, Catherine, Berthet, Pascaline, Delnatte, Capucine, Gesta, Paul, Lortholary, Alain, Faivre, Laurence, Buecher, Bruno, Caron, Olivier, Gauthier‐Villars, Marion, Coupier, Isabelle, Mazoyer, Sylvie, Monraz, Luis‐Cristobal, Kondratova, Maria, Kuperstein, Inna, Guénel, Pascal, Barillot, Emmanuel, Stoppa‐Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne
Publicado 2021

Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation

por Ribeiro Guerra, Maximiliano, Coignard, Juliette, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Fricker, Jean-Pierre, Gesta, Paul, Noguès, Catherine, Faivre, Laurence, Berthet, Pascaline, Luporsi, Elisabeth, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis-Lavignasse, Claude, Venat-Bouvet, Laurence, Dreyfus, Hélène, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Fert-Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Damiola, Francesca, Barjhoux, Laure, Cavaciuti, Eve, Mazoyer, Sylvie, Tardivon, Anne, Lesueur, Fabienne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine
Publicado 2021

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

por Baert-Desurmont, Stéphanie, Charbonnier, Françoise, Houivet, Estelle, Ippolito, Lorena, Mauillon, Jacques, Bougeard, Marion, Abadie, Caroline, Malka, David, Duffour, Jacqueline, Desseigne, Françoise, Colas, Chrystelle, Pujol, Pascal, Lejeune, Sophie, Dugast, Catherine, Buecher, Bruno, Faivre, Laurence, Leroux, Dominique, Gesta, Paul, Coupier, Isabelle, Guimbaud, Rosine, Berthet, Pascaline, Manouvrier, Sylvie, Cauchin, Estelle, Prieur, Fabienne, Laurent-Puig, Pierre, Lebrun, Marine, Jonveaux, Philippe, Chiesa, Jean, Caron, Olivier, Morin-Meschin, Marie-Emmanuelle, Polycarpe-Osaer, Florence, Giraud, Sophie, Zaanan, Aziz, Bonnet, Delphine, Mansuy, Ludovic, Bonadona, Valérie, El Chehadeh, Salima, Duhoux, François, Gauthier-Villars, Marion, Saurin, Jean-Christophe, Collonge-Rame, Marie- Agnès, Brugières, Laurence, Wang, Qing, Bressac-de Paillerets, Brigitte, Rey, Jean-Marc, Toulas, Christine, Buisine, Marie-Pierre, Bronner, Myriam, Sokolowska, Joanna, Hardouin, Agnès, Cailleux, Anne-Françoise, Sebaoui, Hakim, Blot, Julien, Tinat, Julie, Benichou, Jacques, Frebourg, Thierry
Publicado 2016

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

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

por Girard, Elodie, Eon‐Marchais, Séverine, Olaso, Robert, Renault, Anne‐Laure, Damiola, Francesca, Dondon, Marie‐Gabrielle, Barjhoux, Laure, Goidin, Didier, Meyer, Vincent, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Lonjou, Christine, Coignard, Juliette, Marcou, Morgane, Cavaciuti, Eve, Baulard, Céline, Bihoreau, Marie‐Thérèse, Cohen‐Haguenauer, Odile, Leroux, Dominique, Penet, Clotilde, Fert‐Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Eisinger, François, Adenis, Claude, Fajac, Anne, Gladieff, Laurence, Tinat, Julie, Floquet, Anne, Chiesa, Jean, Giraud, Sophie, Mortemousque, Isabelle, Soubrier, Florent, Audebert‐Bellanger, Séverine, Limacher, Jean‐Marc, Lasset, Christine, Lejeune‐Dumoulin, Sophie, Dreyfus, Hélène, Bignon, Yves‐Jean, Longy, Michel, Pujol, Pascal, Venat‐Bouvet, Laurence, Bonadona, Valérie, Berthet, Pascaline, Luporsi, Elisabeth, Maugard, Christine M., Noguès, Catherine, Delnatte, Capucine, Fricker, Jean‐Pierre, Gesta, Paul, Faivre, Laurence, Lortholary, Alain, Buecher, Bruno, Caron, Olivier, Gauthier‐Villars, Marion, Coupier, Isabelle, Servant, Nicolas, Boland, Anne, Mazoyer, Sylvie, Deleuze, Jean‐François, Stoppa‐Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne
Publicado 2018

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

por Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E., Arver, Brita, Olsson, Håkan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, Easton, Douglas F.
Publicado 2020

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

por Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E., Arver, Brita, Olsson, Håkan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, Easton, Douglas F.
Publicado 2020

GENESIS: a French national resource to study the missing heritability of breast cancer

por Sinilnikova, Olga M., Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Damiola, Francesca, Barjhoux, Laure, Marcou, Morgane, Verny-Pierre, Carole, Sornin, Valérie, Toulemonde, Lucie, Beauvallet, Juana, Le Gal, Dorothée, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Dugast, Catherine, Gesta, Paul, Fricker, Jean-Pierre, Noguès, Catherine, Faivre, Laurence, Luporsi, Elisabeth, Berthet, Pascaline, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis, Claude, Venat-Bouvet, Laurence, Demange, Liliane, Dreyfus, Hélène, Frenay, Marc, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Chevrier, Annie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Colas, Chrystelle, Fert-Ferrer, Sandra, Penet, Clotilde, Frebourg, Thierry, Collonge-Rame, Marie-Agnès, Barouk-Simonet, Emmanuelle, Layet, Valérie, Leroux, Dominique, Cohen-Haguenauer, Odile, Prieur, Fabienne, Mouret-Fourme, Emmanuelle, Cornélis, François, Jonveaux, Philippe, Bera, Odile, Cavaciuti, Eve, Tardivon, Anne, Lesueur, Fabienne, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Andrieu, Nadine
Publicado 2016

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

por Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R., Neuhausen, Susan L., Hopper, John L., Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T., Andrulis, Irene L., Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S., Caputo, Sandrine M., Chung, Wendy K., Colas, Chrystelle, Colonna, Sarah V., Cook, Jackie, Daly, Mary B., de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Fehm, Tanja N., Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E., Golmard, Lisa, Greene, Mark H., Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M., Karlan, Beth Y., Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K., Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K., Senter, Leigha, Shariff, Saba, Singer, Christian F., Southey, Melissa C., Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Vega, Ana, Wagner, Sebastian A., Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Spurdle, Amanda B., Easton, Douglas F., Chenevix-Trench, Georgia, Ottini, Laura, Antoniou, Antonis C.
Publicado 2022