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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 2022 | A large case-control study performed in Spanish population suggests that RECQL5 is the only RECQ helicase involved in breast cancer susceptibility | Marchena-Perea, Erik Michel; Salazar-Hidalgo, Milton Eduardo; Gómez-Sanz, Alicia; Arranz-Ledo, Mónica; Barroso, Alicia; Fernández, Victoria CSIC ORCID; Tejera-Pérez, Hugo; Pita, Guillermo; Núñez-Torres, Rocío; Pombo, Luz; Morales-Chamorro, Rafael; Cano-Cano, Juana María; Soriano, Maria del Carmen; Garre, Pilar; Durán, Mercedes CSIC ORCID; Currás-Freixes, María; Hoya, Miguel de la; Osorio, Ana | artículo |
| closedAccess |  | 2014 | About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants | Gutiérrez-Enríquez, Sara; Osorio, Ana; Esteban Cardeñosa, Eva CSIC; Blanco, Ana; Infante, Mar CSIC ORCID; Vega, Ana; Benitez, Javier; Hoya, Miguel de la; Díez, Orland | artículo |
| openAccess |  | 2019 | Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA repor | Lopez Periolo, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F.; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz Rubio, Eduardo; Caldés, Trinidad; Hruska, Kathleen S.; Hsuan, Vickie; Wu, Sitao; Pesaran, Tina; Karam, Rachid; Vallon-Christersson, Johan; Borg, Ake; KConFab Investigators; Valenzuela-Palomo, Alberto CSIC; Velasco, Eladio CSIC ORCID ; Southey, Melissa; Vreeswijk, Maaike P. G.; Devilee, Peter; Kvist, Anders; Spurdle, Amanda B.; Walker, Logan C.; Krieger, Sophie; Hoya, Miguel de la | artículo |
| closedAccess | | oct-2003 | Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects | Díez, Orland; Osorio, Ana; Durán, Mercedes CSIC ORCID; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID ; Esteban Cardeñosa, Eva CSIC; Miner, Cristina CSIC | artículo |
| openAccess |  | 2013 | Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases | Blanco, Ana; Hoya, Miguel de la; Osorio, Ana; Díez, Orland; Infante, Mar CSIC ORCID; Tejada, María Isabel; Velasco, Eladio CSIC ORCID ; Benitez, Javier; Vega, Ana | artículo |
| openAccess |  | 2010 | Analysis of PALB2 gene in Spanish hereditary breast ovarian cancer families with male breast cancer, without BRCA1 or BRCA2 mutations | Blanco, Ana; Hoya, Miguel de la; Infante, Mar CSIC ORCID; Velasco, Eladio CSIC ORCID | póster de congreso |
| openAccess |  | 2015 | Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer | Rebbeck, Timothy R.; Osorio, Ana; Benitez, Javier; Tejada, María Isabel; Durán, Mercedes CSIC ORCID; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio | artículo |
| closedAccess |  | 2015 | BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study | Juan, Inmaculada de; Osorio, Ana; Hoya, Miguel de la; Infante, Mar CSIC ORCID; Díez, Orland; Vega, Ana; Durán, Mercedes CSIC ORCID; Benitez, Javier; Bolufer, Pascual | artículo |
| openAccess |  | 2014 | Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants | Acedo, Alberto CSIC ORCID; Gutiérrez-Enríquez, Sara; Díez, Orland; Velasco, Eladio CSIC ORCID ; Hoya, Miguel de la | artículo |
| openAccess |  | 2018 | Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study | Montalban, Gemma; Fraile-Bethencourt, Eugenia CSIC ORCID; Lopez Periolo, Irene; Pérez-Segura, Pedro; Infante, Mar CSIC ORCID; Durán, Mercedes CSIC ORCID; Alonso-Cerezo, María Concepción; López-Fernández, Adrià; Díez, Orland; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID ; Gutiérrez-Enríquez, Sara | artículo |
| openAccess |  | 2020 | Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene | Sanoguera-Miralles, Lara CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Bueno-Martínez, Elena CSIC ORCID CVN; Llovet, Patricia; Díez-Gómez, Beatriz CSIC; Caloca, María J. CSIC ORCID CVN; Pérez-Segura, Pedro; Fraile-Bethencourt, Eugenia CSIC ORCID; Colmena, Marta; Carvalho, Sara; Allen, Jamie; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID | artículo |
| openAccess |  | 2012 | Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer | Blanco, Ana; Hoya, Miguel de la; Esteban Cardeñosa, Eva CSIC; Infante, Mar CSIC ORCID; Tejada, María Isabel; Osorio, Ana; Velasco, Eladio CSIC ORCID ; Díez, Orland; Vega, Ana | artículo |
| closedAccess |  | 2013 | Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles | Osorio, Ana; Fernández, Victoria CSIC ORCID; Hoya, Miguel de la; Caldés, Trinidad; Vega, Ana; Díez, Orland; Fernández, Daniel; González-Sarmiento, Rogelio CSIC ORCID ; Durán, Mercedes CSIC ORCID; Fernández-Piqueras, José CSIC ORCID; Benítez, Javier | artículo |
| openAccess |  | 2020 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes | Fachal, Laura; Aschard, Hugues; Beesley, Jonathan; Barnes, Daniel R.; Allen, Jamie; Kar, Siddhartha; Pooley, Karen A.; Dennis, Joe; Michailidou, Kyriaki; Turman, Constance; Soucy, Penny; Lemaçon, Audrey; Lush, Michael; Tyrer, Jonathan P.; Ghoussaini, Maya; Moradi Marjaneh, Mahdi; Jiang, Xia; Agata, Simona; Aittomäki, Kristiina; Alonso, M. Rosario; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J.; Arun, Banu K.; Auber, Bernd; Auer, Paul L.; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B.; Barrowdale, Daniel; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Białkowska, Katarzyna; Blanco, Amie M.; Blomqvist, Carl; Blot, William; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Borg, Ake; Bosse, Kristin; Brauch, Hiltrud; Brenner, H.; Briceno, I.; Caldés, T.; Castelao, J. E.; Hoya, Miguel de la; Diez, Orland; Durán, Mercedes CSIC ORCID; Gago-Dominguez, Manuela; García-Saenz, José Ángel; González-Neira, Anna; Moreno, Fernando CSIC ORCID; Muñoz-Garzón, Víctor M.; Osorio, Ana; Pujana, Miguel Ángel; Romero, Atocha; Sánchez-Herrero, Estela; Santamariña, Marta; Teulé, Alex; Vega, Ana | artículo |
| openAccess |  | 2021 | Genomic mapping of splicing-related genes identify amplifications in lsm1, clns1a, and ilf2 in luminal breast cancer | Noblejas-López, María del Mar; López-Cade, Igor; Fuentes-Antrás, Jesús; Fernández-Hinojal, Gonzalo; Esteban-Sánchez, Ada; Manzano, Aranzazu CSIC ORCID ; García-Saenz, José Ángel; Pérez-Segura, Pedro; Hoya, Miguel de la; Pandiella, Atanasio CSIC ORCID CVN ; Győrffy, Balázs; García-Barberán, Vanesa; Ocaña, Alberto | artículo |
| openAccess |  | ago-2006 | Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer | Hoya, Miguel de la; Velasco, Eladio CSIC ORCID ; Osorio, Ana; Esteban Cardeñosa, Eva CSIC; Miner, Cristina CSIC | artículo |
| openAccess |  | 2020 | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia | Asis Tuazon, Anna Marie de; 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; Lázaro, Conxi; Tornero, Eva; Martínez-Bouzaz, Cristina; Infante, Mar CSIC ORCID; Hoya, Miguel de la; Díez, Orland; Browning, Brian L.; Teixeira, Manuel R.; Carvallo, Pilar; Echeverry, Magdalena; Carvajal-Carmona, Luis | artículo |
| openAccess |  | 2015 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer | Kuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio; Durán, Mercedes CSIC ORCID; Tejada, María Isabel | artículo |
| closedAccess |  | 2014 | Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers | Zugazagoitia, Jon; Vega, Ana; González-Sarmiento, Rogelio CSIC ORCID ; Cruz, Juan Jesús CSIC ORCID; Hoya, Miguel de la | artículo |
| openAccess |  | 2022 | Minigene splicing assays identify 20 spliceogenic variants of the breast/Ovarian cancer susceptibility gene RAD51C | Sanoguera-Miralles, Lara CSIC ORCID CVN; Bueno-Martínez, Elena CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Esteban-Sánchez, Ada; Llinares-Burguet, Inés CSIC ORCID CVN; Pérez-Segura, Pedro; García-Álvarez, Alicia CSIC; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID | artículo |
