PARP inhibitors in ovarian cancer

por Cibula, David, Balmaña, Judith
Publicado 2015

Controversies in oncology: are genomic tests quantifying homologous recombination repair deficiency (HRD) useful for treatment decision making?

por Pellegrino, Benedetta, Mateo, Joaquin, Serra, Violeta, Balmaña, Judith
Publicado 2019

Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status

por Prat, Aleix, Cruz, Cristina, Hoadley, Katherine A., Díez, Orland, Perou, Charles M., Balmaña, Judith
Publicado 2014

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

por Moles-Fernández, Alejandro, Domènech-Vivó, Joanna, Tenés, Anna, Balmaña, Judith, Diez, Orland, Gutiérrez-Enríquez, Sara
Publicado 2021

Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: A case report

por Gomez-Puerto, Diego, Llop-Guevara, Alba, Cruellas, Mara, Torres-Esquius, Sara, De La Torre, Javier, Peg, Vicente, Balmaña, Judith, Pimentel, Isabel
Publicado 2022

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

por Balmaña, Judith, Digiovanni, Laura, Gaddam, Pragna, Walsh, Michael F., Joseph, Vijai, Stadler, Zsofia K., Nathanson, Katherine L., Garber, Judy E., Couch, Fergus J., Offit, Kenneth, Robson, Mark E., Domchek, Susan M.
Publicado 2016

Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting fir...

por Koh, Su-Jin, Ohsumi, Shozo, Takahashi, Masato, Fukuma, Eisuke, Jung, Kyung Hae, Ishida, Takanori, Dai, Ming-Shen, Chang, Chuan-Hsun, Dalvi, Tapashi, Walker, Graham, Bennett, James, O’Shaughnessy, Joyce, Balmaña, Judith
Publicado 2021

Correction to: Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast canc...

por Koh, Su-Jin, Ohsumi, Shozo, Takahashi, Masato, Fukuma, Eisuke, Jung, Kyung Hae, Ishida, Takanori, Dai, Ming-Shen, Chang, Chuan-Hsun, Dalvi, Tapashi, Walker, Graham, Bennett, James, O’Shaughnessy, Joyce, Balmaña, Judith
Publicado 2021

Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma

por Errazquin, Ricardo, Carrasco, Estela, Del Marro, Sonia, Suñol, Anna, Peral, Jorge, Ortiz, Jessica, Rubio, Juan Carlos, Segrelles, Carmen, Dueñas, Marta, Garrido-Aranda, Alicia, Alvarez, Martina, Belendez, Cristina, Balmaña, Judith, Garcia-Escudero, Ramon
Publicado 2023

BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance

por Wang, Yifan, Bernhardy, Andrea J., Nacson, Joseph, Krais, John J., Tan, Yin-Fei, Nicolas, Emmanuelle, Radke, Marc R., Handorf, Elizabeth, Llop-Guevara, Alba, Balmaña, Judith, Swisher, Elizabeth M., Serra, Violeta, Peri, Suraj, Johnson, Neil
Publicado 2019

Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic

por López-Fernández, Adrià, Villacampa, Guillermo, Grau, Elia, Salinas, Mónica, Darder, Esther, Carrasco, Estela, Torres-Esquius, Sara, Iglesias, Silvia, Solanes, Ares, Gadea, Neus, Velasco, Angela, Urgell, Gisela, Torres, Maite, Tuset, Noemí, Brunet, Joan, Corbella, Sergi, Balmaña, Judith
Publicado 2021

Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation

por Cedrés, Susana, Felip, Enriqueta, Cruz, Cristina, Martinez de Castro, Ana, Pardo, Nuria, Navarro, Alejandro, Martinez-Marti, Alex, Remon, Jordin, Zeron-Medina, Jorge, Balmaña, Judith, Llop-Guevara, Alba, Miquel, Josep M, Sansano, Irene, Nuciforo, Paolo, Mancuso, Francesco, Serra, Violeta, Vivancos, Ana
Publicado 2018

Clinical consequences of BRCA2 hypomorphism

por 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
Publicado 2021

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

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study

por Turner, Nicholas C., Laird, A. Douglas, Telli, Melinda L., Rugo, Hope S., Mailliez, Audrey, Ettl, Johannes, Grischke, Eva-Maria, Mina, Lida A., Balmaña, Judith, Fasching, Peter A., Hurvitz, Sara A., Hopkins, Julia F., Albacker, Lee A., Chelliserry, Jijumon, Chen, Ying, Conte, Umberto, Wardley, Andrew M., Robson, Mark E.
Publicado 2023

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

por 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
Publicado 2018

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers

por Shah, Jennifer B., Pueschl, Dana, Wubbenhorst, Bradley, Fan, Mengyao, Pluta, John, D’Andrea, Kurt, Hubert, Anna P., Shilan, Jake S., Zhou, Wenting, Kraya, Adam A., Llop Guevara, Alba, Ruan, Catherine, Serra, Violeta, Balmaña, Judith, Feldman, Michael, Morin, Pat J., Nayak, Anupma, Maxwell, Kara N., Domchek, Susan M., Nathanson, Katherine L.
Publicado 2022

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

por Esteban-Jurado, Clara, Giménez-Zaragoza, David, Muñoz, Jenifer, Franch-Expósito, Sebastià, Álvarez-Barona, Miriam, Ocaña, Teresa, Cuatrecasas, Miriam, Carballal, Sabela, López-Cerón, María, Marti-Solano, Maria, Díaz-Gay, Marcos, van Wezel, Tom, Castells, Antoni, Bujanda, Luis, Balmaña, Judith, Gonzalo, Victoria, Llort, Gemma, Ruiz-Ponte, Clara, Cubiella, Joaquín, Balaguer, Francesc, Aligué, Rosa, Castellví-Bel, Sergi
Publicado 2017

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

por 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
Publicado 2013

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

por 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
Publicado 2020