Browsing by Author "Balmaña Gelpí, Judith"
Now showing items 1-20 of 20
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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; Diez Gibert, Orland; Balmaña Gelpí, Judith (MDPI, 2021-01-23) -
BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance
Wang, Yifan; Bernhardy, Andrea J.; Nacson, Joseph; Krais, John J.; Tan, Yin-Fei; Nicolas, Emmanuelle; Llop Guevara, Alba; Balmaña Gelpí, Judith; Serra Elizalde, Violeta (Springer Nature, 2019-12-11) -
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants
Lambertini, Matteo; Ceppi, Marcello; Hamy, Anne-Sophie; Caron, Olivier; Poorvu, Philip D.; Carrasco López, Estela; Balmaña Gelpí, Judith (Nature Research, 2021-02-12) -
Clinical consequences of BRCA2 hypomorphism
Castells-Roca, Laia; Gutierrez Enriquez, Sara; Bonache Real, Sandra; Bogliolo, Massimo; Carrasco López, Estela; Aza-Carmona, Miriam; Montalban Canudas, Gemma; Cruz Zambrano, Cristina; Llop Guevara, Alba; Saura Manich, Cristina; Serra Elizalde, Violeta; Diez Gibert, Orland; Balmaña Gelpí, Judith (Nature Research, 2021-09-09) -
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals
Dámaso, Estela; González-Acosta, Maribel; Vargas-Parra, Gardenia; Navarro, Matilde; Balmaña Gelpí, Judith; Ramon y Cajal, Teresa (MDPI, 2020-07-05) -
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Stradella, Agostina; del Valle, Jesús; Rofes, Paula; Feliubadaló, Lídia; Grau Garces, Èlia; Velasco, Àngela; Balmaña Gelpí, Judith (BMJ Publishing Group, 2019-08) -
Evolving Landscape of Molecular Prescreening Strategies for Oncology Early Clinical Trials
Dienstmann, Rodrigo; Garralda Cabanas, Elena; Aguilar, Susana; Sala De Vedruna, Gemma; Viaplana Donato, Cristina; Ruiz Pace, Fiorella; González-Zorelle, Jenifer; Grazia LoGiacco, Deborah; Ogbah, Zighereda; Ramos Masdeu, Laia; Mancuso, Francesco Mattia; Fasani, Roberta; Jiménez Flores, José Antonio; Martinez, Paola; Oaknin benzaquen, Ana Mazaltob; Saura Manich, Cristina; Antunes de Melo Oliveira, Ana Mafalda; Balmaña Gelpí, Judith; Carles Galceran, Joan; Macarulla Mercadé, Teresa; Elez Fernandez, Mª Elena; Alsina Maqueda, Maria; Braña Garcia, Irene; Felip Font, Enriqueta; Tabernero Caturla, Josep; Rodon Ahnert, Jordi; Nuciforo, Paolo Giovanni; Vivancos Prellezo, Ana (American Society of Clinical Oncology, 2020-05-14) -
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Ferreira, Manuel A; Gamazon, Eric R; Al-Ejeh, Fares; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Balmaña Gelpí, Judith; Diez Gibert, Orland (Nature Research, 2019-04-15) -
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization
Sánchez-Heras, A. Beatriz; Castillejo, Adela; García-Díaz, Juan D.; Robledo, Mercedes; Teulé, Alexandre; Sánchez, Rosario; Lopez Fernandez, Adrià; Balmaña Gelpí, Judith (MDPI, 2020-11-05) -
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Barnes, Daniel R.; Rookus, Matti A.; McGuffog, Lesley; Leslie, Goska; Mooij, Thea M.; Dennis, Joe; Balmaña Gelpí, Judith; Diez Gibert, Orland (Springer Nature, 2020-10) -
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 first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study
Koh, Su-Jin; Ohsumi, Shozo; Takahashi, Masato; Fukuma, Eisuke; Jung, Kyung Hae; Ishida, Takanori; Balmaña Gelpí, Judith (Springer, 2022-01) -
Role of POLE and POLD1 in familial cancer
Mur, Pilar; García-Mulero, Sandra; del Valle, Jesús; Magraner-Pardo, Lorena; Vidal, August; Pineda, Marta; Balmaña Gelpí, Judith (Springer Nature, 2020-12) -
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes
Moles Fernandez, Alejandro; Domènech Vivó, Joanna; Tenés Felipe, Anna; Balmaña Gelpí, Judith; Diez Gibert, Orland; Gutierrez Enriquez, Sara (MDPI, 2021-07-03) -
Safety of assisted reproductive techniques in young women harboring germline pathogenic variants in BRCA1/2 with a pregnancy after prior history of breast cancer
Condorelli, Margherita; Bruzzone, M.; Ceppi, Marcello; Ferrari, A.; Grinshpun, A.; Hamy, Anne-Sophie; Carrasco López, Estela; Balmaña Gelpí, Judith (Elsevier, 2021-12) -
SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)
González‑Santiago, S.; Ramon y Cajal, Teresa; Aguirre, E.; Alés‑Martínez, J. E.; Andrés, Raquel; Balmaña Gelpí, Judith (Springer, 2020-02) -
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Lasheras, Sandra Viz; Pujol, Roser; Balmaña Gelpí, Judith; Diez Gibert, Orland (Nature Publishing Group, 2019-11-01) -
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology
Tamborero, David; Dienstmann, Rodrigo; Haj Rachid, Maan; Boekel, Jorrit; Lopez Fernandez, Adrià; Jonsson, Markus; Braña Garcia, Irene; Balmaña Gelpí, Judith; Villalobos Alberú, Xenia; Chavarria, Elena; Garralda Cabanas, Elena; Tabernero Caturla, Josep; Rodon Ahnert, Jordi (Nature Research, 2022-02) -
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 BRCA2 pathogenic variant
Lakeman, Inge M. M.; van den Broek, Alexandra J.; Vos, Juliën A. M.; Barnes, Daniel R.; Adlard, Julian; Andrulis, Irene L.; Balmaña Gelpí, Judith (Springer Nature, 2021-09) -
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
Figlioli, Gisella; Kvist, Anders; Tham, Emma; Soukupova, Jana; Kleiblova, Petra; Muranen, Taru A; Balmaña Gelpí, Judith; Diez Gibert, Orland (MDPI, 2020-01-26) -
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu‐full, Zomoroda; Balmaña Gelpí, Judith; Diez Gibert, Orland (Wiley, 2020-07)