Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants von Houdayer, Claude, Caux-Moncoutier, Virginie, Krieger, Sophie, Barrois, Michel, Bonnet, Françoise, Bourdon, Violaine, Bronner, Myriam, Buisson, Monique, Coulet, Florence, Gaildrat, Pascaline, Lefol, Cédrick, Léone, Mélanie, Mazoyer, Sylvie, Muller, Danielle, Remenieras, Audrey, Révillion, Françoise, Rouleau, Etienne, Sokolowska, Joanna, Vert, Jean-Philippe, Lidereau, Rosette, Soubrier, Florent, Sobol, Hagay, Sevenet, Nicolas, Bressac-de Paillerets, Brigitte, Hardouin, Agnès, Tosi, Mario, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique

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

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BRCA2 Deep Intronic Mutation Causing Activation of a Cryptic Exon: Opening toward a New Preventive Therapeutic Strategy von ANCZUKOW, Olga, BUISSON, Monique, LEONE, Melanie, COUTANSON, Christine, LASSET, Christine, CALENDER, Alain, SINILNIKOVA, Olga M, MAZOYER, Sylvie

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Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12 von Meulemans, Laëtitia, Mesman, Romy L S, Caputo, Sandrine M, Krieger, Sophie, Guillaud-Bataille, Marine, Caux-Moncoutier, Virginie, Léone, Mélanie, Boutry-Kryza, Nadia, Sokolowska, Johanna, Révillion, Françoise, Delnatte, Capucine, Tubeuf, Hélène, Soukarieh, Omar, Bonnet-Dorion, Françoise, Guibert, Virginie, Bronner, Myriam, Bourdon, Violaine, Lizard, Sarab, Vilquin, Paul, Privat, Maud, Drouet, Aurélie, Grout, Charlotte, Calléja, Fabienne M G R, Golmard, Lisa, Vrieling, Harry, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Frebourg, Thierry, Vreeswijk, Maaike P G, Martins, Alexandra, Gaildrat, Pascaline

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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System von Tubeuf, Hélène, Caputo, Sandrine M, Sullivan, Teresa, Rondeaux, Julie, Krieger, Sophie, Caux-Moncoutier, Virginie, Hauchard, Julie, Castelain, Gaia, Fiévet, Alice, Meulemans, Laëtitia, Révillion, Françoise, Léoné, Mélanie, Boutry-Kryza, Nadia, Delnatte, Capucine, Guillaud-Bataille, Marine, Cleveland, Linda, Reid, Susan, Southon, Eileen, Soukarieh, Omar, Drouet, Aurélie, Di Giacomo, Daniela, Vezain, Myriam, Bonnet-Dorion, Françoise, Bourdon, Violaine, Larbre, Hélène, Muller, Danièle, Pujol, Pascal, Vaz, Fátima, Audebert-Bellanger, Séverine, Colas, Chrystelle, Venat-Bouvet, Laurence, Solano, Angela R, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Frebourg, Thierry, Gaildrat, Pascaline, Sharan, Shyam K, Martins, Alexandra

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

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Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort von Bouras, Ahmed, Guidara, Souhir, Leone, Mélanie, Buisson, Adrien, Martin-Denavit, Tanguy, Dussart, Sophie, Lasset, Christine, Giraud, Sophie, Bonnet-Dupeyron, Marie-Noëlle, Kherraf, Zine-Eddine, Sanlaville, Damien, Fert-Ferrer, Sandra, Lebrun, Marine, Bonadona, Valerie, Calender, Alain, Boutry-Kryza, Nadia

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Occurrence of a non deleterious gene conversion event in the BRCA1 gene von Tessereau, Chloé, Léoné, Mélanie, Buisson, Monique, Duret, Laurent, Sinilnikova, Olga M., Mazoyer, Sylvie

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Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease von Jiao, Yue, Truong, Thérèse, Eon-Marchais, Séverine, Mebirouk, Noura, Caputo, Sandrine M., Dondon, Marie-Gabrielle, Karimi, Mojgan, Le Gal, Dorothée, Beauvallet, Juana, Le Floch, Édith, Dandine-Roulland, Claire, Bacq-Daian, Delphine, Olaso, Robert, Albuisson, Juliette, Audebert-Bellanger, Séverine, Berthet, Pascaline, Bonadona, Valérie, Buecher, Bruno, Caron, Olivier, Cavaillé, Mathias, Chiesa, Jean, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Delnatte, Capucine, De Pauw, Antoine, Dreyfus, Hélène, Fert-Ferrer, Sandra, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Golmard, Lisa, Lasset, Christine, Lejeune-Dumoulin, Sophie, Léoné, Mélanie, Limacher, Jean-Marc, Lortholary, Alain, Luporsi, Élisabeth, Mari, Véronique, Maugard, Christine M., Mortemousque, Isabelle, Mouret-Fourme, Emmanuelle, Nambot, Sophie, Noguès, Catherine, Popovici, Cornel, Prieur, Fabienne, Pujol, Pascal, Sevenet, Nicolas, Sobol, Hagay, Toulas, Christine, Uhrhammer, Nancy, Vaur, Dominique, Venat, Laurence, Boland-Augé, Anne, Guénel, Pascal, Deleuze, Jean-François, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

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

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

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

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Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing von Tessereau, Chloé, Lesecque, Yann, Monnet, Nastasia, Buisson, Monique, Barjhoux, Laure, Léoné, Mélanie, Feng, Bingjian, Goldgar, David E, Sinilnikova, Olga M, Mousset, Sylvain, Duret, Laurent, Mazoyer, Sylvie

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Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population‐based study von de Sanjosé, Silvia, Léoné, Mélanie, Bérez, Victoria, Izquierdo, Angel, Font, Rebeca, Brunet, Joan M., Louat, Thierry, Vilardell, Loreto, Borras, Joan, Viladiu, Pau, Bosch, F. Xavier, Lenoir, Gilbert M., Sinilnikova, Olga M.

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Acetyl-CoA carboxylase α gene and breast cancer susceptibility von Sinilnikova, Olga M., Ginolhac, Sophie M., Magnard, Clémence, Léoné, Mélanie, Anczukow, Olga, Hughes, David, Moreau, Karen, Thompson, Deborah, Coutanson, Christine, Hall, Janet, Romestaing, Pascale, Gérard, Jean-Pierre, Bonadona, Valérie, Lasset, Christine, Goldgar, David E., Joulin, Virginie, Venezia, Nicole Dalla, Lenoir, Gilbert M.

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Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France von Bonadona, Valerie, Sinilnikova, Olga M., Chopin, Sandrine, Antoniou, Antonis C., Mignotte, Hervé, Mathevet, Patrice, Brémond, Alain, Martin, Alain, Bobin, Jean-Yves, Romestaing, Pascale, Raudrant, Daniel, Rudigoz, René-Charles, Léoné, Mélanie, Chauvin, Franck, Easton, Douglas F., Lenoir, Gilbert M, Lasset, Christine

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Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer von Bouras, Ahmed, Lafaye, Cyril, Leone, Melanie, Kherraf, Zine-Eddine, Martin-Denavit, Tanguy, Fert-Ferrer, Sandra, Calender, Alain, Boutry-Kryza, Nadia

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Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer von Bouras, Ahmed, Leone, Melanie, Bonadona, Valerie, Lebrun, Marine, Calender, Alain, Boutry-Kryza, Nadia

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach von Caputo, Sandrine M., Damiola, Francesca, Revillion, Françoise, Derive, Nicolas, Buisson, Adrien, Basset, Noémie, Schwartz, Mathias, Vilquin, Paul, Garrec, Celine, Privat, Maud, Gay-Bellile, Mathilde, Allary, Anne-Sophie, Belotti, Muriel, Benigni, Charlotte, Benusiglio, Patrick R., Berthet, Pascaline, Bézieau, Stéphane, Bidart, Marie, Bignon, Yves-Jean, Blanluet, Maud, Bloucard, Amelie, Bonnet, Françoise, Boulaire, Manon, Bouras, Ahmed, Brahimi, Afane, Bubien, Virginie, Chieze-Valéro, Stephanie, Cohen-Haguenauer, Odile, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Crivelli, Louise, Cusin, Véronica, De Pauw, Antoine, Delhomelle, Hélène, Demontety, Sophie, Denizeau, Philippe, Dreyfus, Helene, d’Enghein, Catherine Dubois, Dupré, Anaïs, Durlach, Anne, Dussart, Sophie, Fajac, Anne, Fert-Ferrer, Sandra, Fiévet, Alice, Fouillet, Robin, Mouret-Fourme, Emmanuelle, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Goussot, Vincent, Guibert, Virginie, Guillerm, Erell, Guy, Christophe, Hardouin, Agnès, Ingster, Olivier, Jacquot-Sawka, Caroline, Jones, Natalie, Krieger, Sophie, Lacoste, Sofiane, Lallaoui, Hakima, Larbre, Helene, Laugé, Anthony, Le Mentec, Marine, Lecerf, Caroline, Le Gall, Jessica, Legros, Angélina, Lignon, Norbert, Doriane Livon, Lortholary, Alain, Mailliez, Audrey, Malsa, Sarah, Maugard, Christine, Menjard, Julie, Molière, Diane, Moncoutier, Virginie, Moretta-Serra, Jessica, Muller, Etienne, Nguyen Minh Tuan, Thien-vu, Noguchi, Tetsuro, Oca, Florine, Popovici, Cornel, Prieur, Fabienne, Raad, Sabine, Ricou, Agathe, Salle, Lucie, Saule, Claire, Sevenet, Nicolas, Suybeng, Voreak, Tennevet, Isabelle, Tenreiro, Henrique, Tinat, Julie, Toulas, Christine, Vande Perre, Pierre, Vaur, Dominique, Villy, Marie-Charlotte, Yvard, Alice, Zattara, Helene, Caron, Olivier, Boutry-Kryza, Nadia

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A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2 von Zanti, Maria, O'Mahony, Denise G, Parsons, Michael T, Li, Hongyan, Dennis, Joe, Aittomakkiki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Aronson, Kristan J, Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Brown, Melissa A, Buys, Saundra S, Canzian, Federico, Caputo, Sandrine M, Castelao, Jose E, Chang-Claude, Jenny, Czene, Kamila, Daly, Mary B, De Nicolo, Arcangela, Devilee, Peter, Dork, Thilo, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A, Gentry-Maharaj, Aleksandra, Geurts-Giele, Willemina R.R, Giles, Graham G, Glendon, Gord, Goldberg, Mark S, Garcia, Encarna B. Gomez, Guendert, Melanie, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hogervorst, Frans B.L, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Houdayer, Claude, Houlston, Richard S, Howell, Anthony, Investigators, Abctb, Jakimovska, Milena, Jakubowska, Anna, Jernstrom, Helena, John, Esther M, Kaaks, Rudolf, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Lacey, James, Lambrechts, Diether, Leone, Melanie, Lindblom, Annika, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Menon, Usha, Milne, Roger L, Monteiro, Alvaro N, Murphy, Rachel A, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Offit, Kenneth, Park, Sue K, James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U, Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H, Saloustros, Emmanouil, Sandler, Dale P, Schmidt, Marjanka K, Schmutzler, Rita K, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C

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