Choosing Variant Interpretation Tools for Clinical Applications: Context Matters

por Aguirre, Josu, Padilla, Natàlia, Özkan, Selen, Riera, Casandra, Feliubadaló, Lídia, de la Cruz, Xavier
Publicado 2023

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2021

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2020

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

por Mur, Pilar, Viana-Errasti, Julen, García-Mulero, Sandra, Magraner-Pardo, Lorena, Muñoz, Inés G., Pons, Tirso, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lidia, Valle, Laura
Publicado 2023

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

por Rofes, Paula, Pineda, Marta, Feliubadaló, Lídia, Menéndez, Mireia, de Cid, Rafael, Gómez, Carolina, Montes, Eva, Capellá, Gabriel, Brunet, Joan, del Valle, Jesús, Lázaro, Conxi
Publicado 2021

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

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

por Fernández-Rodríguez, Juana, Quiles, Francisco, Blanco, Ignacio, Teulé, Alex, Feliubadaló, Lídia, Valle, Jesús del, Salinas, Mónica, Izquierdo, Àngel, Darder, Esther, Schindler, Detlev, Capellá, Gabriel, Brunet, Joan, Lázaro, Conxi, Pujana, Miguel Angel
Publicado 2012

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

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

por del Valle, Jesús, Rofes, Paula, Moreno-Cabrera, José Marcos, López-Dóriga, Adriana, Belhadj, Sami, Vargas-Parra, Gardenia, Teulé, Àlex, Cuesta, Raquel, Muñoz, Xavier, Campos, Olga, Salinas, Mónica, de Cid, Rafael, Brunet, Joan, González, Sara, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lídia, Lázaro, Conxi
Publicado 2020

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

BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

por Rofes, Paula, Del Valle, Jesús, Torres-Esquius, Sara, Feliubadaló, Lídia, Stradella, Agostina, Moreno-Cabrera, José Marcos, López-Doriga, Adriana, Munté, Elisabet, De Cid, Rafael, Campos, Olga, Cuesta, Raquel, Teulé, Álex, Grau, Èlia, Sanz, Judit, Capellá, Gabriel, Díez, Orland, Brunet, Joan, Balmaña, Judith, Lázaro, Conxi
Publicado 2021

Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model

por Mavaddat, Nasim, Ficorella, Lorenzo, Carver, Tim, Lee, Andrew, Cunningham, Alex P., Lush, Michael, Dennis, Joe, Tischkowitz, Marc, Downes, Kate, Hu, Donglei, Hahnen, Eric, Schmutzler, Rita K., Stockley, Tracy L., Downs, Gregory S., Zhang, Tong, Chiarelli, Anna M., Bojesen, Stig E., Liu, Cong, Chung, Wendy K., Pardo, Monica, Feliubadaló, Lidia, Balmaña, Judith, Simard, Jacques, Antoniou, Antonis C., Easton, Douglas F.
Publicado 2023

Role of POLE and POLD1 in familial cancer

por Mur, Pilar, García-Mulero, Sandra, del Valle, Jesús, Magraner-Pardo, Lorena, Vidal, August, Pineda, Marta, Cinnirella, Giacomo, Martín-Ramos, Edgar, Pons, Tirso, López-Doriga, Adriana, Belhadj, Sami, Feliubadaló, Lidia, Munoz-Torres, Pau M., Navarro, Matilde, Grau, Elia, Darder, Esther, Llort, Gemma, Sanz, Judit, Ramón y Cajal, Teresa, Balmana, Judith, Brunet, Joan, Moreno, Victor, Piulats, Josep M., Matías-Guiu, Xavier, Sanz-Pamplona, Rebeca, Aligué, Rosa, Capellá, Gabriel, Lázaro, Conxi, Valle, Laura
Publicado 2020

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

por Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Publicado 2023

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

por Mikropoulos, Christos, Selkirk, Christina G Hutten, Saya, Sibel, Bancroft, Elizabeth, Vertosick, Emily, Dadaev, Tokhir, Brendler, Charles, Page, Elizabeth, Dias, Alexander, Evans, D Gareth, Rothwell, Jeanette, Maehle, Lovise, Axcrona, Karol, Richardson, Kate, Eccles, Diana, Jensen, Thomas, Osther, Palle J, van Asperen, Christi J, Vasen, Hans, Kiemeney, Lambertus A, Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Hart, Rachel, Glover, Wayne, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A, Oosterwijk, Jan C, Cook, Jackie, Rosario, Derek J, Buys, Saundra S, Conner, Tom, Domchek, Susan, Powers, Jacquelyn, Ausems, Margreet GEM, Teixeira, Manuel R, Maia, Sofia, Izatt, Louise, Schmutzler, Rita, Rhiem, Kerstin, Foulkes, William D, Boshari, Talia, Davidson, Rosemarie, Ruijs, Marielle, Helderman-van den Enden, Apollonia TJM, Andrews, Lesley, Walker, Lisa, Snape, Katie, Henderson, Alex, Jobson, Irene, Lindeman, Geoffrey J, Liljegren, Annelie, Harris, Marion, Adank, Muriel A, Kirk, Judy, Taylor, Amy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Pachter, Nicholas, Spigelman, Allan, Side, Lucy, Zgajnar, Janez, Mora, Josefina, Brewer, Carole, Gadea, Neus, Brady, Angela F, Gallagher, David, van Os, Theo, Donaldson, Alan, Stefansdottir, Vigdis, Barwell, Julian, James, Paul A, Murphy, Declan, Friedman, Eitan, Nicolai, Nicola, Greenhalgh, Lynn, Obeid, Elias, Murthy, Vedang, Copakova, Lucia, McGrath, John, Teo, Soo-Hwang, Strom, Sara, Kast, Karin, Leongamornlert, Daniel A, Chamberlain, Anthony, Pope, Jenny, Newlin, Anna C, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lubinski, Jan, Grindedal, Eli Marie, McKinley, Joanne, Shackleton, Kylie, Mitra, Anita V, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Tricker, Karen, Moss, Sue, Kote-Jarai, Zsofia, Vickers, Andrew, Lilja, Hans, Helfand, Brian T, Eeles, Rosalind A
Publicado 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

por Mikropoulos, Christos, Hutten Selkirk, Christina G, Saya, Sibel, Bancroft, Elizabeth, Vertosick, Emily, Dadaev, Tokhir, Brendler, Charles, Page, Elizabeth, Dias, Alexander, Evans, D Gareth, Rothwell, Jeanette, Maehle, Lovise, Axcrona, Karol, Richardson, Kate, Eccles, Diana, Jensen, Thomas, Osther, Palle J, van Asperen, Christi J, Vasen, Hans, Kiemeney, Lambertus A, Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Hart, Rachel, Glover, Wayne, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A, Oosterwijk, Jan C, Cook, Jackie, Rosario, Derek J, Buys, Saundra S, Conner, Tom, Domchek, Susan, Powers, Jacquelyn, Ausems, Margreet G E M, Teixeira, Manuel R, Maia, Sofia, Izatt, Louise, Schmutzler, Rita, Rhiem, Kerstin, Foulkes, William D, Boshari, Talia, Davidson, Rosemarie, Ruijs, Marielle, Helderman-van den Enden, Apollonia T J M, Andrews, Lesley, Walker, Lisa, Snape, Katie, Henderson, Alex, Jobson, Irene, Lindeman, Geoffrey J, Liljegren, Annelie, Harris, Marion, Adank, Muriel A, Kirk, Judy, Taylor, Amy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Pachter, Nicholas, Spigelman, Allan, Side, Lucy, Zgajnar, Janez, Mora, Josefina, Brewer, Carole, Gadea, Neus, Brady, Angela F, Gallagher, David, van Os, Theo, Donaldson, Alan, Stefansdottir, Vigdis, Barwell, Julian, James, Paul A, Murphy, Declan, Friedman, Eitan, Nicolai, Nicola, Greenhalgh, Lynn, Obeid, Elias, Murthy, Vedang, Copakova, Lucia, McGrath, John, Teo, Soo-Hwang, Strom, Sara, Kast, Karin, Leongamornlert, Daniel A, Chamberlain, Anthony, Pope, Jenny, Newlin, Anna C, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lubinski, Jan, Grindedal, Eli Marie, McKinley, Joanne, Shackleton, Kylie, Mitra, Anita V, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Tricker, Karen, Moss, Sue, Kote-Jarai, Zsofia, Vickers, Andrew, Lilja, Hans, Helfand, Brian T, Eeles, Rosalind A
Publicado 2018

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA...

por Lakeman, Inge M. M., van den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A., Chung, Wendy K., Claes, Kathleen B. M., Collée, J. Margriet, Couch, Fergus J., Daly, Mary B., Dennis, Joe, Dhawan, Mallika, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hogervorst, Frans B. L., Hooning, Maartje J., Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kets, Carolien M., Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue K., Parsons, Michael T., Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Schmutzler, Rita K., Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, van Asperen, Christi J., Bernstein, Jonine L., Offit, Kenneth, Easton, Douglas F., Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., Robson, Mark, Schmidt, Marjanka K.
Publicado 2021

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

por Page, Elizabeth C., Bancroft, Elizabeth K., Brook, Mark N., Assel, Melissa, Hassan Al Battat, Mona, Thomas, Sarah, Taylor, Natalie, Chamberlain, Anthony, Pope, Jennifer, Raghallaigh, Holly Ni, Evans, D. Gareth, Rothwell, Jeanette, Maehle, Lovise, Grindedal, Eli Marie, James, Paul, Mascarenhas, Lyon, McKinley, Joanne, Side, Lucy, Thomas, Tessy, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Jensen, Thomas Dyrsø, Osther, Palle J.S., Helfand, Brian T., Genova, Elena, Oldenburg, Rogier A., Cybulski, Cezary, Wokolorczyk, Dominika, Ong, Kai-Ren, Huber, Camilla, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oosterwijk, Jan C., van Zelst-Stams, Wendy, Cook, Jackie, Rosario, Derek J., Domchek, Susan, Powers, Jacquelyn, Buys, Saundra, O'Toole, Karen, Ausems, Margreet G.E.M., Schmutzler, Rita K., Rhiem, Kerstin, Izatt, Louise, Tripathi, Vishakha, Teixeira, Manuel R., Cardoso, Marta, Foulkes, William D., Aprikian, Armen, van Randeraad, Heleen, Davidson, Rosemarie, Longmuir, Mark, Ruijs, Mariëlle W.G., Helderman van den Enden, Apollonia T.J.M., Adank, Muriel, Williams, Rachel, Andrews, Lesley, Murphy, Declan G., Halliday, Dorothy, Walker, Lisa, Liljegren, Annelie, Carlsson, Stefan, Azzabi, Ashraf, Jobson, Irene, Morton, Catherine, Shackleton, Kylie, Snape, Katie, Hanson, Helen, Harris, Marion, Tischkowitz, Marc, Taylor, Amy, Kirk, Judy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Spigelman, Allan, Pachter, Nicholas, Ahmed, Munaza, Ramon y Cajal, Teresa, Zgajnar, Janez, Brewer, Carole, Gadea, Neus, Brady, Angela F., van Os, Theo, Gallagher, David, Johannsson, Oskar, Donaldson, Alan, Barwell, Julian, Nicolai, Nicola, Friedman, Eitan, Obeid, Elias, Greenhalgh, Lynn, Murthy, Vedang, Copakova, Lucia, Saya, Sibel, McGrath, John, Cooke, Peter, Rønlund, Karina, Richardson, Kate, Henderson, Alex, Teo, Soo H., Arun, Banu, Kast, Karin, Dias, Alexander, Aaronson, Neil K., Ardern-Jones, Audrey, Bangma, Chris H., Castro, Elena, Dearnaley, David, Eccles, Diana M., Tricker, Karen, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Stefansdottir, Vigdis, Khoo, Vincent, Lindeman, Geoffrey J., Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita, Moynihan, Clare, Rennert, Gadi, Suri, Mohnish, Wilson, Penny, Dudderidge, Tim, Offman, Judith, Kote-Jarai, Zsofia, Vickers, Andrew, Lilja, Hans, Eeles, Rosalind A.
Publicado 2019