Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

por Quiles, Francisco, Fernández-Rodríguez, Juana, Mosca, Roberto, Feliubadaló, Lídia, Tornero, Eva, Brunet, Joan, Blanco, Ignacio, Capellá, Gabriel, Pujana, Miquel Àngel, Aloy, Patrick, Monteiro, Alvaro, Lázaro, Conxi
Publicado 2013

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

por Munté, Elisabet, Feliubadaló, Lidia, Pineda, Marta, Tornero, Eva, Gonzalez, Maribel, Moreno-Cabrera, José Marcos, Roca, Carla, Bales Rubio, Joan, Arnaldo, Laura, Capellá, Gabriel, Mosquera, Jose Luis, Lázaro, Conxi
Publicado 2023

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

por Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard
Publicado 2017

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

por Stradella, Agostina, del Valle, Jesús, Rofes, Paula, Feliubadaló, Lídia, Grau Garces, Èlia, Velasco, Àngela, González, Sara, Vargas, Gardenia, Izquierdo, Ángel, Campos, Olga, Tornero, Eva, Navarro, Matilde, Balmaña-Gelpi, Judith, Capellá, Gabriel, Pineda, Marta, Brunet, Joan, Lázaro, Conxi
Publicado 2019

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

por Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi
Publicado 2017

Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance

por Ruiz de Garibay, Gorka, Mateo, Francesca, Stradella, Agostina, Valdés-Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A., Díaz-Navarro, Ander, Vargas-Parra, Gardenia, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal, August, Petit, Anna, Soler, Teresa, Lázaro, Conxi, Puente, Xose S., Villanueva, Alberto, Pujana, Miguel Angel
Publicado 2018

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

por Tuazon, Anna Marie De Asis, Lott, Paul, Bohórquez, Mabel, Benavides, Jennyfer, Ramirez, Carolina, Criollo, Angel, Estrada-Florez, Ana, Mateus, Gilbert, Velez, Alejandro, Carmona, Jenny, Olaya, Justo, Garcia, Elisha, Polanco-Echeverry, Guadalupe, Stultz, Jacob, Alvarez, Carolina, Tapia, Teresa, Ashton-Prolla, Patricia, Vega, Ana, Lazaro, Conxi, Tornero, Eva, Martinez-Bouzas, Cristina, Infante, Mar, De La Hoya, Miguel, Diez, Orland, Browning, Brian L., Rannala, Bruce, Teixeira, Manuel R., Carvallo, Pilar, Echeverry, Magdalena, Carvajal-Carmona, Luis G.
Publicado 2020

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

por Blanco, Ignacio, Kuchenbaecker, Karoline, Cuadras, Daniel, Wang, Xianshu, Barrowdale, Daniel, de Garibay, Gorka Ruiz, Librado, Pablo, Sánchez-Gracia, Alejandro, Rozas, Julio, Bonifaci, Núria, McGuffog, Lesley, Pankratz, Vernon S., Islam, Abul, Mateo, Francesca, Berenguer, Antoni, Petit, Anna, Català, Isabel, Brunet, Joan, Feliubadaló, Lidia, Tornero, Eva, Benítez, Javier, Osorio, Ana, Cajal, Teresa Ramón y, Nevanlinna, Heli, Aittomäki, Kristiina, Arun, Banu K., Toland, Amanda E., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Greene, Mark H., Mai, Phuong L., Nussbaum, Robert L., Andrulis, Irene L., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Barkardottir, Rosa B., Jakubowska, Anna, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Claes, Kathleen, Van Maerken, Tom, Díez, Orland, Hansen, Thomas V., Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, de la Hoya, Miguel, Caldés, Trinidad, Dunning, Alison M., Oliver, Clare, Fineberg, Elena, Cook, Margaret, Peock, Susan, McCann, Emma, Murray, Alex, Jacobs, Chris, Pichert, Gabriella, Lalloo, Fiona, Chu, Carol, Dorkins, Huw, Paterson, Joan, Ong, Kai-Ren, Teixeira, Manuel R., Hogervorst, Frans B. L., van der Hout, Annemarie H., Seynaeve, Caroline, van der Luijt, Rob B., Ligtenberg, Marjolijn J. L., Devilee, Peter, Wijnen, Juul T., Rookus, Matti A., Meijers-Heijboer, Hanne E. J., Blok, Marinus J., van den Ouweland, Ans M. W., Aalfs, Cora M., Rodriguez, Gustavo C., Phillips, Kelly-Anne A., Piedmonte, Marion, Nerenstone, Stacy R., Bae-Jump, Victoria L., O'Malley, David M., Ratner, Elena S., Schmutzler, Rita K., Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg J., Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Bojesen, Anders, Pedersen, Inge Sokilde, Sunde, Lone, Jensen, Uffe Birk, Thomassen, Mads, Kruse, Torben A., Foretova, Lenka, Peterlongo, Paolo, Bernard, Loris, Peissel, Bernard, Scuvera, Giulietta, Manoukian, Siranoush, Radice, Paolo, Ottini, Laura, Montagna, Marco, Agata, Simona, Maugard, Christine, Simard, Jacques, Soucy, Penny, Berger, Andreas, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Geschwantler-Kaulich, Daphne, Tea, Muy-Kheng, Pfeiler, Georg, John, Esther M., Miron, Alex, Neuhausen, Susan L., Terry, Mary Beth, Chung, Wendy K., Daly, Mary B., Goldgar, David E., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elisabeth J., Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Godwin, Andrew K., Olah, Edith, Narod, Steven A., Rennert, Gad, Paluch, Shani Shimon, Laitman, Yael, Friedman, Eitan, Liljegren, Annelie, Rantala, Johanna, Stenmark-Askmalm, Marie, Loman, Niklas, Imyanitov, Evgeny N., Hamann, Ute, Spurdle, Amanda B., Healey, Sue, Weitzel, Jeffrey N., Herzog, Josef, Margileth, David, Gorrini, Chiara, Esteller, Manel, Gómez, Antonio, Sayols, Sergi, Vidal, Enrique, Heyn, Holger, Stoppa-Lyonnet, Dominique, Léoné, Melanie, Barjhoux, Laure, Fassy-Colcombet, Marion, de Pauw, Antoine, Lasset, Christine, Ferrer, Sandra Fert, Castera, Laurent, Berthet, Pascaline, Cornelis, François, Bignon, Yves-Jean, Damiola, Francesca, Mazoyer, Sylvie, Sinilnikova, Olga M., Maxwell, Christopher A., Vijai, Joseph, Robson, Mark, Kauff, Noah, Corines, Marina J., Villano, Danylko, Cunningham, Julie, Lee, Adam, Lindor, Noralane, Lázaro, Conxi, Easton, Douglas F., Offit, Kenneth, Chenevix-Trench, Georgia, Couch, Fergus J., Antoniou, Antonis C., Pujana, Miguel Angel
Publicado 2015

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

por Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmaña, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Blümcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Åke, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesús, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana M., Ehrencrona, Hans, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique C.R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne‐Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Gómez Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri‐Gonzaga, Aliana, Guillaud‐Bataille, Marine, Gutiérrez‐Enríquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas V.O., Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion, Kölbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, López‐Fernández, Adrià, Lucci‐Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles‐Fernández, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Müller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai‐ren, Pachter, Nicholas, Palmero, Edenir I., Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez‐Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl‐Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sánchez de Abajo, Ana María, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa‐Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean V., Teo, Soo H., Teulé, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Törngren, Therese, Torres‐Esquius, Sara, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana, Vargas‐Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang‐Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmüller, Lisa, Witzel, Isabell, Wöckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder‐Göß, Christine, Investigators, KConFab, Lázaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., Spurdle, Amanda B.
Publicado 2019