SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing von Leman, Raphaël, Parfait, Béatrice, Vidaud, Dominique, Girodon, Emmanuelle, Pacot, Laurence, Le Gac, Gérald, Ka, Chandran, Ferec, Claude, Fichou, Yann, Quesnelle, Céline, Aucouturier, Camille, Muller, Etienne, Vaur, Dominique, Castera, Laurent, Boulouard, Flavie, Ricou, Agathe, Tubeuf, Hélène, Soukarieh, Omar, Gaildrat, Pascaline, Riant, Florence, Guillaud‐Bataille, Marine, Caputo, Sandrine M., Caux‐Moncoutier, Virginie, Boutry‐Kryza, Nadia, Bonnet‐Dorion, Françoise, Schultz, Ines, Rossing, Maria, Quenez, Olivier, Goldenberg, Louis, Harter, Valentin, Parsons, Michael T., Spurdle, Amanda B., Frébourg, Thierry, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie

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Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas von Manié, Elodie, Popova, Tatiana, Battistella, Aude, Tarabeux, Julien, Caux‐Moncoutier, Virginie, Golmard, Lisa, Smith, Nicholas K., Mueller, Christopher R., Mariani, Odette, Sigal‐Zafrani, Brigitte, Dubois, Thierry, Vincent‐Salomon, Anne, Houdayer, Claude, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri

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Germline BAP1 Mutations Predispose to Renal Cell Carcinomas von Popova, Tatiana, Hebert, Lucie, Jacquemin, Virginie, Gad, Sophie, Caux-Moncoutier, Virginie, Dubois-d’Enghien, Catherine, Richaudeau, Bénédicte, Renaudin, Xavier, Sellers, Jason, Nicolas, André, Sastre-Garau, Xavier, Desjardins, Laurence, Gyapay, Gabor, Raynal, Virginie, Sinilnikova, Olga M., Andrieu, Nadine, Manié, Elodie, de Pauw, Antoine, Gesta, Paul, Bonadona, Valérie, Maugard, Christine M., Penet, Clotilde, Avril, Marie-Françoise, Barillot, Emmanuel, Cabaret, Odile, Delattre, Olivier, Richard, Stéphane, Caron, Olivier, Benfodda, Meriem, Hu, Hui-Han, Soufir, Nadem, Bressac-de Paillerets, Brigitte, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri

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Evaluation of in silico splice tools for decision-making in molecular diagnosis von Houdayer, Claude, Dehainault, Catherine, Mattler, Christophe, Michaux, Dorothée, Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, d'Enghien, Catherine Dubois, Laugé, Anthony, Castera, Laurent, Gauthier-Villars, Marion, 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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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants von 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

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Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas von Pécuchet, Nicolas, Popova, Tatiana, Manié, Elodie, Lucchesi, Carlo, Battistella, Aude, Vincent‐Salomon, Anne, Caux‐Moncoutier, Virginie, Bollet, Marc, Sigal‐Zafrani, Brigitte, Sastre‐Garau, Xavier, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri

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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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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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Denaturing High-Performance Liquid Chromatography Detects Reliably BRCA1 and BRCA2 Mutations von Wagner, Teresa, Stoppa-Lyonnet, Dominique, Fleischmann, Elisabeth, Muhr, Daniela, Pagès, Sabine, Sandberg, Therese, Caux, Virginie, Moeslinger, Regina, Langbauer, Gudrun, Borg, Ake, Oefner, Peter

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EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 pat... von Caux-Moncoutier, Virginie, Castéra, Laurent, Tirapo, Carole, Michaux, Dorothée, Rémon, Marie-Alice, Laugé, Anthony, Rouleau, Etienne, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Viovy, Jean-Louis, Stoppa-Lyonnet, Dominique, Houdayer, Claude

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Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with BRCA1/2 Inactivation von POPOVA, Tatiana, MANIE, Elodie, HOUDAYE, Claude, SASTRE-GARAU, Xavier, VINCENT-SALOMON, Anne, STOPPA-LYONNET, Dominique, STERN, Marc-Henri, RIEUNIER, Guillaume, CAUX-MONCOUTIER, Virginie, TIRAPO, Carole, DUBOIS, Thierry, DELATTRE, Olivier, SIGAL-ZAFRANI, Brigitte, BOLLET, Marc, LONGY, Michel

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Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families von GAD, Sophie, CAUX-MONCOUTIER, Virginie, CHEVRIER, Annie, ROSSI, Annick, FRICKER, Jean-Pierre, TAN DAT NGUYEN, DEMANGE, Liliane, AURIAS, Alain, BENSIMON, Aaron, STOPPA-LYONNET, Dominique, PAGES-BERHOUET, Sabine, GAUTHIER-VILLARS, Marion, COUPIER, Isabelle, PUJOL, Pascal, FRENAY, Marc, GILBERT, Brigitte, MAUGARD, Christine, BIGNON, Yves-Jean

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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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Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer von Davy, Grégoire, Rousselin, Antoine, Goardon, Nicolas, Castéra, Laurent, Harter, Valentin, Legros, Angelina, Muller, Etienne, Fouillet, Robin, Brault, Baptiste, Smirnova, Anna S, Lemoine, Fréderic, de la Grange, Pierre, Guillaud-Bataille, Marine, Caux-Moncoutier, Virginie, Houdayer, Claude, Bonnet, Françoise, Blanc-Fournier, Cécile, Gaildrat, Pascaline, Frebourg, Thierry, Martins, Alexandra, Vaur, Dominique, Krieger, Sophie

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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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Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk von Petitalot, Ambre, Dardillac, Elodie, Jacquet, Eric, Nhiri, Naima, Guirouilh-Barbat, Josée, Julien, Patrick, Bouazzaoui, Isslam, Bonte, Dorine, Feunteun, Jean, Schnell, Jeff A, Lafitte, Philippe, Aude, Jean-Christophe, Noguès, Catherine, Rouleau, Etienne, Lidereau, Rosette, Lopez, Bernard S, Zinn-Justin, Sophie, Caputo, Sandrine M

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Germline mutation in the RAD51B gene confers predisposition to breast cancer von 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

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Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases von Caputo, Sandrine, Benboudjema, Louisa, Sinilnikova, Olga, Rouleau, Etienne, Béroud, Christophe, Lidereau, Rosette

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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk von Spurdle, Amanda B, Whiley, Phillip J, Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A, Pettigrew, Christopher, Van Asperen, Christi J, Ausems, Margreet G E M, Kattentidt-Mouravieva, Anna A, van den Ouweland, Ans M W, Belgium UV Consortium, Dutch, Lindblom, Annika, Pigg, Maritta H, Schmutzler, Rita K, Engel, Christoph, Meindl, Alfons, Caputo, Sandrine, Sinilnikova, Olga M, Lidereau, Rosette, Couch, Fergus J, Guidugli, Lucia, Hansen, Thomas van Overeem, Thomassen, Mads, Eccles, Diana M, Tucker, Kathy, Benitez, Javier, Domchek, Susan M, Toland, Amanda E, Van Rensburg, Elizabeth J, Wappenschmidt, Barbara, Borg, Åke, Vreeswijk, Maaike P G, Goldgar, David E

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