BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort
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
Published in Genes (23.01.2021)
Published in Genes (23.01.2021)
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Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
Moreno-Cabrera, José Marcos, Del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
Published in European journal of human genetics : EJHG (01.12.2020)
Published in European journal of human genetics : EJHG (01.12.2020)
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Journal Article
CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools
Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat
Published in Bioinformatics (Oxford, England) (18.11.2021)
Published in Bioinformatics (Oxford, England) (18.11.2021)
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Journal Article
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19
Solanich, Xavier, Vargas-Parra, Gardenia, van der Made, Caspar I., Simons, Annet, Schuurs-Hoeijmakers, Janneke, Antolí, Arnau, del Valle, Jesús, Rocamora-Blanch, Gemma, Setién, Fernando, Esteller, Manel, van Reijmersdal, Simon V., Riera-Mestre, Antoni, Sabater-Riera, Joan, Capellá, Gabriel, van de Veerdonk, Frank L., van der Hoven, Ben, Corbella, Xavier, Hoischen, Alexander, Lázaro, Conxi
Published in Frontiers in immunology (23.07.2021)
Published in Frontiers in immunology (23.07.2021)
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Journal Article
Characteristics of Adrenocortical Carcinoma Associated With Lynch Syndrome
Domènech, Marta, Grau, Elia, Solanes, Ares, Izquierdo, Angel, del Valle, Jesús, Carrato, Cristina, Pineda, Marta, Dueñas, Nuria, Pujol, Magda, Lázaro, Conxi, Capellà, Gabriel, Brunet, Joan, Navarro, Matilde
Published in The journal of clinical endocrinology and metabolism (01.02.2021)
Published in The journal of clinical endocrinology and metabolism (01.02.2021)
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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
Leslie, Goska, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Arnold, Norbert, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barwell, Julian, Belotti, Muriel, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Brennan, Paul, Brewer, Carole, Bucalo, Agostino, Buys, Saundra S, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Claes, Kathleen B M, Coppa, Anna, Damante, Giuseppe, Davidson, Rosemarie, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D Gareth, Feliubadaló, Lidia, Gehrig, Andrea, Giraud, Sophie, Godwin, Andrew K, Gregory, Helen, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V O, Hentschel, Julia, Horvath, Judit, Izquierdo, Angel, Jensen, Uffe Birk, John, Esther M, Kruse, Torben A, Lautrup, Charlotte, Lesueur, Fabienne, Manoukian, Siranoush, Meindl, Alfons, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H, Pinto, Pedro, Pottinger, Caroline, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, van Asperen, Christi J, Venturelli, Marta, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Whaite, Anna, Offit, Kenneth, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Ottini, Laura
Published in JNCI : Journal of the National Cancer Institute (01.01.2022)
Published in JNCI : Journal of the National Cancer Institute (01.01.2022)
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The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination
Alvaro-Aranda, Lucia, Petitalot, Ambre, Djeghmoum, Yasmina, Panigada, Davide, Singh, Jenny Kaur, Ehlén, Åsa, Vugic, Domagoj, Martin, Charlotte, Miron, Simona, Contreras-Perez, Aida, Nhiri, Naima, Boucherit, Virginie, Lafitte, Philippe, Dumoulin, Isaac, Rouleau, Etienne, Jacquet, Eric, Feliubadaló, Lidia, Del Valle, Jesús, Stoppa-Lyonnet, Dominique, Zinn-Justin, Sophie, Lázaro, Conxi, Caputo, Sandrine M, Carreira, Aura
Published in Nucleic acids research (08.07.2024)
Published in Nucleic acids research (08.07.2024)
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The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals
Carrato, Cristina, Sanz, Carolina, Muñoz-Mármol, Ana María, Blanco, Ignacio, Pineda, Marta, Del Valle, Jesús, Dámaso, Estela, Esteller, Manel, Musulen, Eva
Published in International journal of molecular sciences (28.04.2021)
Published in International journal of molecular sciences (28.04.2021)
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Journal Article
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer
Moreno-Cabrera, José Marcos, del Valle, Jesús, Feliubadaló, Lidia, Pineda, Marta, González, Sara, Campos, Olga, Cuesta, Raquel, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Gel, Bernat, Lázaro, Conxi
Published in Journal of medical genetics (01.01.2022)
Published in Journal of medical genetics (01.01.2022)
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Journal Article
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels
Feliubadaló, Lídia, López‐Fernández, Adrià, Pineda, Marta, Díez, Orland, Valle, Jesús, Gutiérrez‐Enríquez, Sara, Teulé, Alex, González, Sara, Stjepanovic, Neda, Salinas, Mónica, Capellá, Gabriel, Brunet, Joan, Lázaro, Conxi, Balmaña, Judith, Campos, Olga, Carrasco, Estela, Cuesta, Raquel, Darder, Esther, Gadea, Neus, Gómez, Carolina, Grau, Elia, Iglesias, Silvia, Izquierdo, Angel, Llort, Gemma, Menéndez, Mireia, Moles‐Fernández, Alejandro, Montes, Eva, Muñoz, Xavier, Navarro, Matilde, Ramon y Cajal, Teresa, Sanz, Judit, Solanes, Ares, Stradella, Agostina, Tornero, Eva, Torres‐Esquius, Sara, Tuset, Noemí, Urgell, Gisela, Velasco, Angela
Published in International journal of cancer (15.11.2019)
Published in International journal of cancer (15.11.2019)
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Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk
Mur, Pilar, Magraner-Pardo, Lorena, García-Mulero, Sandra, Díez-Villanueva, Anna, Del Valle, Jesús, Ezquerro, Elsa, Lázaro, Conxi, Capellá, Gabriel, Moreno, Victor, Sanz-Pamplona, Rebeca, Pons, Tirso, Valle, Laura
Published in European journal of human genetics : EJHG (01.04.2022)
Published in European journal of human genetics : EJHG (01.04.2022)
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Journal Article
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients
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
Published in Cancers (30.03.2020)
Published in Cancers (30.03.2020)
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Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
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
Published in Journal of medical genetics (01.08.2019)
Published in Journal of medical genetics (01.08.2019)
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Journal Article
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
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
Published in Scientific reports (04.01.2017)
Published in Scientific reports (04.01.2017)
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Journal Article
Primary constitutional MLH1 epimutations: a focal epigenetic event
Dámaso, Estela, Castillejo, Adela, Arias, María Del Mar, Canet-Hermida, Julia, Navarro, Matilde, Del Valle, Jesús, Campos, Olga, Fernández, Anna, Marín, Fátima, Turchetti, Daniela, García-Díaz, Juan de Dios, Lázaro, Conxi, Genuardi, Maurizio, Rueda, Daniel, Alonso, Ángel, Soto, Jose Luis, Hitchins, Megan, Pineda, Marta, Capellá, Gabriel
Published in British journal of cancer (01.10.2018)
Published in British journal of cancer (01.10.2018)
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Journal Article
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
Rofes, Paula, Pineda, Marta, Feliubadaló, Lídia, Menéndez, Mireia, de Cid, Rafael, Gómez, Carolina, Montes, Eva, Capellá, Gabriel, Brunet, Joan, Del Valle, Jesús, Lázaro, Conxi
Published in Scientific reports (25.11.2021)
Published in Scientific reports (25.11.2021)
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Journal Article
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
Feliubadaló, Lídia, Lopez-Doriga, Adriana, Castellsagué, Ester, del Valle, Jesús, Menéndez, Mireia, Tornero, Eva, Montes, Eva, Cuesta, Raquel, Gómez, Carolina, Campos, Olga, Pineda, Marta, González, Sara, Moreno, Victor, Brunet, Joan, Blanco, Ignacio, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi
Published in European journal of human genetics : EJHG (01.08.2013)
Published in European journal of human genetics : EJHG (01.08.2013)
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Journal Article
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
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
Published in Scientific reports (04.01.2017)
Published in Scientific reports (04.01.2017)
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Journal Article
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals
Dámaso, Estela, González-Acosta, Maribel, Vargas-Parra, Gardenia, Navarro, Matilde, Balmaña, Judith, Ramon y Cajal, Teresa, Tuset, Noemí, Thompson, Bryony A., Marín, Fátima, Fernández, Anna, Gómez, Carolina, Velasco, Àngela, Solanes, Ares, Iglesias, Sílvia, Urgel, Gisela, López, Consol, del Valle, Jesús, Campos, Olga, Santacana, Maria, Matias-Guiu, Xavier, Lázaro, Conxi, Valle, Laura, Brunet, Joan, Pineda, Marta, Capellá, Gabriel
Published in Cancers (05.07.2020)
Published in Cancers (05.07.2020)
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Journal Article
Tumor analysis of MMR genes in Lynch‐like syndrome: Challenges associated with results interpretation
Rofes, Paula, Dueñas, Núria, Valle, Jesús, Navarro, Matilde, Balmaña, Judith, Ramón y Cajal, Teresa, Tuset, Noemí, Castillo, Carmen, González, Sara, Brunet, Joan, Capellá, Gabriel, Lázaro, Conxi, Pineda, Marta
Published in Cancer medicine (Malden, MA) (01.04.2024)
Published in Cancer medicine (Malden, MA) (01.04.2024)
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