Arama Sonuçları - Díez, Orland

Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status Yazar: Prat, Aleix, Cruz, Cristina, Hoadley, Katherine A., Díez, Orland, Perou, Charles M., Balmaña, Judith

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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes Yazar: Moles-Fernández, Alejandro, Domènech-Vivó, Joanna, Tenés, Anna, Balmaña, Judith, Diez, Orland, Gutiérrez-Enríquez, Sara

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Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer Yazar: DIEZ, ORLAND, PELEGRÍ, AMADEU, GADEA, NEUS, GUTIÉRREZ-ENRÍQUEZ, SARA, MASAS, MIRIAM, TENÉS, ANNA, BOSCH, NINA, BALMAÑA, JUDITH, GRAÑA, BEGOÑA

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BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge Yazar: Padilla, Natàlia, Moles-Fernández, Alejandro, Riera, Casandra, Montalban, Gemma, Özkan, Selen, Ootes, Lars, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, de la Cruz, Xavier

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Cell Senescence-Related Pathways Are Enriched in Breast Cancer Patients With Late Toxicity After Radiotherapy and Low Radiation-Induced Lymphocyte Apoptosis Yazar: Aguado-Flor, Ester, Fuentes-Raspall, María J., Gonzalo, Ricardo, Alonso, Carmen, Ramón y Cajal, Teresa, Fisas, David, Seoane, Alejandro, Sánchez-Pla, Álex, Giralt, Jordi, Díez, Orland, Gutiérrez-Enríquez, Sara

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Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families Yazar: de Garibay, Gorka Ruiz, Díaz, Avellaneda, Gaviña, Belén, Romero, Atocha, Garre, Pilar, Vega, Ana, Blanco, Ana, Tosar, Alicia, Díez, Orland, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, de la Hoya, Miguel

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Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci Yazar: Rosa-Rosa, Juan Manuel, Pita, Guillermo, Urioste, Miguel, Llort, Gemma, Brunet, Joan, Lázaro, Conxi, Blanco, Ignacio, Ramón y Cajal, Teresa, Díez, Orland, de la Hoya, Miguel, Caldés, Trinidad, Tejada, Maria-Isabel, González-Neira, Anna, Benítez, Javier

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Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes Yazar: Brandão, Rita D., Mensaert, Klaas, López‐Perolio, Irene, Tserpelis, Demis, Xenakis, Markos, Lattimore, Vanessa, Walker, Logan C., Kvist, Anders, Vega, Ana, Gutiérrez‐Enríquez, Sara, Díez, Orland, de la Hoya, Miguel, Spurdle, Amanda B., De Meyer, Tim, Blok, Marinus J.

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Clinical consequences of BRCA2 hypomorphism Yazar: Castells-Roca, Laia, Gutiérrez-Enríquez, Sara, Bonache, Sandra, Bogliolo, Massimo, Carrasco, Estela, Aza-Carmona, Miriam, Montalban, Gemma, Muñoz-Subirana, Núria, Pujol, Roser, Cruz, Cristina, Llop-Guevara, Alba, Ramírez, María J., Saura, Cristina, Lasa, Adriana, Serra, Violeta, Diez, Orland, Balmaña, Judith, Surrallés, Jordi

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

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PI3K Inhibition Impairs BRCA1/2 Expression and Sensitizes BRCA-Proficient Triple-Negative Breast Cancer to PARP Inhibition Yazar: Ibrahim, Yasir H., García-García, Celina, Serra, Violeta, He, Lei, Torres-Lockhart, Kristine, Prat, Aleix, Anton, Pilar, Cozar, Patricia, Guzmán, Marta, Grueso, Judit, Rodríguez, Olga, Calvo, Maria Teresa, Aura, Claudia, Díez, Orland, Rubio, Isabel T., Pérez, José, Rodón, Jordi, Cortés, Javier, Ellisen, Leif W., Scaltriti, Maurizio, Baselga, José

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Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? Yazar: Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara

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Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases Yazar: Blanco, Ana, de la Hoya, Miguel, Osorio, Ana, Diez, Orland, Miramar, María Dolores, Infante, Mar, Martinez-Bouzas, Cristina, Torres, Asunción, Lasa, Adriana, Llort, Gemma, Brunet, Joan, Graña, Begoña, Perez Segura, Pedro, Garcia, María José, Gutiérrez-Enríquez, Sara, Carracedo, Ángel, Tejada, María-Isabel, Velasco, Eladio A., Calvo, María-Teresa, Balmaña, Judith, Benitez, Javier, Caldés, Trinidad, Vega, Ana

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Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 Yazar: Hernández, Gonzalo, Ramírez, María José, Minguillón, Jordi, Quiles, Paco, Ruiz de Garibay, Gorka, Aza-Carmona, Miriam, Bogliolo, Massimo, Pujol, Roser, Prados-Carvajal, Rosario, Fernández, Juana, García, Nadia, López, Adrià, Gutiérrez-Enríquez, Sara, Diez, Orland, Benítez, Javier, Salinas, Mónica, Teulé, Alex, Brunet, Joan, Radice, Paolo, Peterlongo, Paolo, Schindler, Detlev, Huertas, Pablo, Puente, Xose S, Lázaro, Conxi, Pujana, Miquel Àngel, Surrallés, Jordi

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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants Yazar: Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, de la Cruz, Xavier, Díez, Orland, Gutiérrez-Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier Luigi, Mishne, Gilad, Moles-Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O’Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A., Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T., Spurdle, Amanda B., Goldgar, David E.

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

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Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects Yazar: Li, Na, Zethoven, Magnus, McInerny, Simone, Devereux, Lisa, Huang, Yu-Kuan, Thio, Niko, Cheasley, Dane, Gutiérrez-Enríquez, Sara, Moles-Fernández, Alejandro, Diez, Orland, Nguyen-Dumont, Tu, Southey, Melissa C., Hopper, John L., Simard, Jacques, Dumont, Martine, Soucy, Penny, Meindl, Alfons, Schmutzler, Rita, Schmidt, Marjanka K., Adank, Muriel A., Andrulis, Irene L., Hahnen, Eric, Engel, Christoph, Lesueur, Fabienne, Girard, Elodie, Neuhausen, Susan L., Ziv, Elad, Allen, Jamie, Easton, Douglas F., Scott, Rodney J., Gorringe, Kylie L., James, Paul A., Campbell, Ian G.

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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding Yazar: Burke, Leslie J., Sevcik, Jan, Gambino, Gaetana, Tudini, Emma, Mucaki, Eliseos J., Shirley, Ben C., Whiley, Phillip, Parsons, Michael T., De Leeneer, Kim, Gutiérrez‐Enríquez, Sara, Santamariña, Marta, Caputo, Sandrine M., Santana dos Santos, Elizabeth, Soukupova, Jana, Janatova, Marketa, Zemankova, Petra, Lhotova, Klara, Stolarova, Lenka, Borecka, Mariana, Moles‐Fernández, Alejandro, Manoukian, Siranoush, Bonanni, Bernardo, Edwards, Stacey L., Blok, Marinus J., van Overeem Hansen, Thomas, Rossing, Maria, Diez, Orland, Vega, Ana, Claes, Kathleen B.M., Goldgar, David E., Rouleau, Etienne, Radice, Paolo, Peterlongo, Paolo, Rogan, Peter K., Caligo, Maria, Spurdle, Amanda B., Brown, Melissa A.

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A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation Yazar: Castroviejo‐Bermejo, Marta, Cruz, Cristina, Llop‐Guevara, Alba, Gutiérrez‐Enríquez, Sara, Ducy, Mandy, Ibrahim, Yasir Hussein, Gris‐Oliver, Albert, Pellegrino, Benedetta, Bruna, Alejandra, Guzmán, Marta, Rodríguez, Olga, Grueso, Judit, Bonache, Sandra, Moles‐Fernández, Alejandro, Villacampa, Guillermo, Viaplana, Cristina, Gómez, Patricia, Vidal, Marc, Peg, Vicente, Serres‐Créixams, Xavier, Dellaire, Graham, Simard, Jacques, Nuciforo, Paolo, Rubio, Isabel T, Dientsmann, Rodrigo, Barrett, J Carl, Caldas, Carlos, Baselga, José, Saura, Cristina, Cortés, Javier, Déas, Olivier, Jonkers, Jos, Masson, Jean‐Yves, Cairo, Stefano, Judde, Jean‐Gabriel, O'Connor, Mark J, Díez, Orland, Balmaña, Judith, Serra, Violeta

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Preclinical in vivo validation of the RAD51 test for identification of homologous recombination-deficient tumors and patient stratification Yazar: Pellegrino, Benedetta, Herencia-Ropero, Andrea, Llop-Guevara, Alba, Pedretti, Flaminia, Moles-Fernández, Alejandro, Viaplana, Cristina, Villacampa, Guillermo, Guzmán, Marta, Rodríguez, Olga, Grueso, Judit, Jiménez, Jose, Arenas, Enrique J., Degasperi, Andrea, Dias, João M. L., Forment, Josep V., O’Connor, Mark J., Déas, Olivier, Cairo, Stefano, Zhou, Yinghui, Musolino, Antonino, Caldas, Carlos, Nik-Zainal, Serena, Clarke, Robert B., Nuciforo, Paolo, Díez, Orland, Serres-Créixams, Xavier, Peg, Vicente, Espinosa-Bravo, Martín, Macarulla, Teresa, Oaknin, Ana, Mateo, Joaquin, Arribas, Joaquín, Dienstmann, Rodrigo, Bellet, Meritxell, Oliveira, Mafalda, Saura, Cristina, Gutiérrez-Enríquez, Sara, Balmaña, Judith, Serra, Violeta

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