Clinical utility gene card for: Retinoblastoma

Por Lohmann, Dietmar, Gallie, Brenda, Dommering, Charlotte, Gauthier-Villars, Marion
Publicado em 2011

Retinoblastoma

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

PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history

Por Alarcon, Flora, Bourgain, Catherine, Gauthier-Villars, Marion, Planté-Bordeneuve, Violaine, Stoppa-Lyonnet, Dominique, Bonaïti-Pellié, Catherine
Publicado em 2009

Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec

Por Dorval, Michel, Noguès, Catherine, Berthet, Pascaline, Chiquette, Jocelyne, Gauthier-Villars, Marion, Lasset, Christine, Picard, Claude, Plante, Marie, Simard, Jacques, Julian-Reynier, Claire
Publicado em 2011

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 em 2011

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

Por Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, Michaux, Dorothée, Asselain, Bernard, Castéra, Laurent, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Houdayer, Claude
Publicado em 2009

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Por Dehainault, Catherine, Golmard, Lisa, Millot, Gaël A, Charpin, Agathe, Laugé, Anthony, Tarabeux, Julien, Aerts, Isabelle, Cassoux, Nathalie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
Publicado no Eur J Hum Genet (2017)

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

Por Castéra, Laurent, Dehainault, Catherine, Michaux, Dorothée, Lumbroso-Le Rouic, Livia, Aerts, Isabelle, Doz, Francois, Pelet, Anna, Couturier, Jérôme, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
Publicado em 2013

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 no PLoS Genet (2016)

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

Por Andrieu, Nadine, Goldgar, David E., Easton, Douglas F., Rookus, Matti, Brohet, Richard, Antoniou, Antonis C., Peock, Susan, Evans, Gareth, Eccles, Diana, Douglas, Fiona, Noguès, Catherine, Gauthier-Villars, Marion, Chompret, Agnès, Van Leeuwen, Flora E., Kluijt, Irma, Benitez, Javier, Arver, Brita, Olah, Edith, Chang-Claude, Jenny
Publicado em 2006

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

Por Bourdeaut, Franck, Ferrand, Sandrine, Brugières, Laurence, Hilbert, Marjorie, Ribeiro, Agnès, Lacroix, Ludovic, Bénard, Jean, Combaret, Valérie, Michon, Jean, Valteau-Couanet, Dominique, Isidor, Bertrand, Rialland, Xavier, Poirée, Maryline, Defachelles, Anne-Sophie, Peuchmaur, Michel, Schleiermacher, Gudrun, Pierron, Gaëlle, Gauthier-Villars, Marion, Janoueix-Lerosey, Isabelle, Delattre, Olivier
Publicado em 2012

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 no PLoS One (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 em 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 em 2012

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 em 2012

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 no Eur J Hum Genet (2016)

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 no BMC Cancer (2016)

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Por Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.
Publicado em 2008

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Por Cox, David G., Simard, Jacques, Sinnett, Daniel, Hamdi, Yosr, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Caligo, Maria A., Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S., Borg, Åke, Karlsson, Per, Stenmark Askmalm, Marie, Barbany Bustinza, Gisela, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Benítez, Javier, Hamann, Ute, Rookus, Matti A., van den Ouweland, Ans M.W., Ausems, Margreet G.E.M., Aalfs, Cora M., van Asperen, Christi J., Devilee, Peter, Gille, Hans J.J.P., Peock, Susan, Frost, Debra, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K., Remon, Marie-Alice, Moncoutier, Virginie, Gauthier-Villars, Marion, Lasset, Christine, Giraud, Sophie, Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay, Eisinger, François, Bressac de Paillerets, Brigitte, Caron, Olivier, Delnatte, Capucine, Goldgar, David, Miron, Alex, Ozcelik, Hilmi, Buys, Saundra, Southey, Melissa C., Terry, Mary Beth, Singer, Christian F., Dressler, Anne-Catharina, Tea, Muy-Kheng, Hansen, Thomas V.O., Johannsson, Oskar, Piedmonte, Marion, Rodriguez, Gustavo C., Basil, Jack B., Blank, Stephanie, Toland, Amanda E., Montagna, Marco, Isaacs, Claudine, Blanco, Ignacio, Gayther, Simon A., Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel, Nevanlinna, Heli, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan C., Couch, Fergus J., Wang, Xianshu, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Radice, Paolo, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Sinilnikova, Olga M.
Publicado em 2011

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Por Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segrè, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B. L., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Overeem Hansen, Thomas V., Nielsen, Finn C., Greene, Mark H., Mai, Phuong L., Osorio, Ana, Durán, Mercedes, Andres, Raquel, Benítez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth
Publicado em 2010