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1. MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma

Author

Monteagudo, María, Calsina, Bruna, Salazar-Hidalgo, Milton E., Martínez-Montes, Ángel M., Piñeiro-Yáñez, Elena, Caleiras, Eduardo, Martín, Maria Carmen, Rodríguez-Perales, Sandra, Letón, Rocío, Gil, Eduardo, Buffet, Alexandre, Burnichon, Nelly, Fernández-Sanromán, Ángel, Díaz-Talavera, Alberto, Mellid, Sara, Arroba, Ester, Reglero, Clara, Martínez-Puente, Natalia, Roncador, Giovanna, del Olmo, Maria Isabel, Corrales, Pedro José Pinés, Oliveira, Cristina Lamas, Álvarez-Escolá, Cristina, Gutiérrez, María Calatayud, López-Fernández, Adrià, García, Nuria Palacios, Regojo, Rita María, Díaz, Luis Robles, Laorden, Nuria Romero, Guadarrama, Oscar Sanz, Bechmann, Nicole, Beuschlein, Felix, Canu, Letizia, Eisenhofer, Graeme, Fassnacht, Martin, Nölting, Svenja, Quinkler, Marcus, Rapizzi, Elena, Remde, Hanna, Timmers, Henri J., Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Rodriguez-Antona, Cristina, Currás-Freixes, Maria, Al-Shahrour, Fatima, Cascón, Alberto, Leandro-García, Luis J., Montero-Conde, Cristina, and Robledo, Mercedes

Published
2024
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4. Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

Author

Calsina, Bruna, Piñeiro-Yáñez, Elena, Martínez-Montes, Ángel M., Caleiras, Eduardo, Fernández-Sanromán, Ángel, Monteagudo, María, Torres-Pérez, Rafael, Fustero-Torre, Coral, Pulgarín-Alfaro, Marta, Gil, Eduardo, Letón, Rocío, Jiménez, Scherezade, García-Martín, Santiago, Martin, Maria Carmen, Roldán-Romero, Juan María, Lanillos, Javier, Mellid, Sara, Santos, María, Díaz-Talavera, Alberto, Rubio, Ángeles, González, Patricia, Hernando, Barbara, Bechmann, Nicole, Dona, Margo, Calatayud, María, Guadalix, Sonsoles, Álvarez-Escolá, Cristina, Regojo, Rita M., Aller, Javier, Del Olmo-Garcia, Maria Isabel, López-Fernández, Adrià, Fliedner, Stephanie M. J., Rapizzi, Elena, Fassnacht, Martin, Beuschlein, Felix, Quinkler, Marcus, Toledo, Rodrigo A., Mannelli, Massimo, Timmers, Henri J., Eisenhofer, Graeme, Rodríguez-Perales, Sandra, Domínguez, Orlando, Macintyre, Geoffrey, Currás-Freixes, Maria, Rodríguez-Antona, Cristina, Cascón, Alberto, Leandro-García, Luis J., Montero-Conde, Cristina, Roncador, Giovanna, García-García, Juan Fernando, Pacak, Karel, Al-Shahrour, Fátima, and Robledo, Mercedes

Published
2023
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7. Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome

Author

Roldan-Romero, Juan María, Santos, María, Lanillos, Javier, Caleiras, Eduardo, Anguera, Georgia, Maroto, Pablo, García-Donas, Jesús, de Velasco, Guillermo, Martinez-Montes, Ángel Mario, Calsina, Bruna, Monteagudo, María, Letón, Rocío, Leandro-García, Luis Javier, Montero-Conde, Cristina, Cascón, Alberto, Robledo, Mercedes, and Rodriguez-Antona, Cristina

Published
2020
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8. Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy

Author

Apellániz Ruiz, María, Tejero Franco, Héctor, Inglada Pérez, Lucía Silvia, Sánchez Barroso, Lara, Gutiérrez Gutiérrez, Gerardo, Calvo, Isabel, Castelo, Beatriz, Redondo, Andrés, García Donás, Jesús, Romero Laorden, Nuria, Sereno, María, Merino, María, Currás Freixes, María, Montero Conde, Cristina, Mancikova, Veronika, Åvall Lundqvist, Elisabeth, Green, Henrik, Al-Shahrour, Fátima, Cascón, Alberto, Robledo, Mercedes, Rodríguez Antona, Cristina, Apellániz Ruiz, María, Tejero Franco, Héctor, Inglada Pérez, Lucía Silvia, Sánchez Barroso, Lara, Gutiérrez Gutiérrez, Gerardo, Calvo, Isabel, Castelo, Beatriz, Redondo, Andrés, García Donás, Jesús, Romero Laorden, Nuria, Sereno, María, Merino, María, Currás Freixes, María, Montero Conde, Cristina, Mancikova, Veronika, Åvall Lundqvist, Elisabeth, Green, Henrik, Al-Shahrour, Fátima, Cascón, Alberto, Robledo, Mercedes, and Rodríguez Antona, Cristina

Abstract

Purpose: Neuropathy is the dose-limiting toxicity of paclitaxel and a major cause for decreased quality of life. Genetic factors have been shown to contribute to paclitaxel neuropathy susceptibility; however, the major causes for interindividual differences remain unexplained. In this study, we identified genetic markers associated with paclitaxel-induced neuropathy through massive sequencing of candidate genes. Experimental Design: We sequenced the coding region of 4 EPHA genes, 5 genes involved in paclitaxel pharmacokinetics, and 30 Charcot–Marie–Tooth genes, in 228 cancer patients with no/low neuropathy or high-grade neuropathy during paclitaxel treatment. An independent validation series included 202 paclitaxel-treated patients. Variation-/gene-based analyses were used to compare variant frequencies among neuropathy groups, and Cox regression models were used to analyze neuropathy along treatment. Results: Gene-based analysis identified EPHA6 as the gene most significantly associated with paclitaxel-induced neuropathy. Low-frequency nonsynonymous variants in EPHA6 were present exclusively in patients with high neuropathy, and all affected the ligand-binding domain of the protein. Accumulated dose analysis in the discovery series showed a significantly higher neuropathy risk for EPHA5/6/8 low-frequency nonsynonymous variant carriers [HR, 14.60; 95% confidence interval (CI), 2.33–91.62; P ¼ 0.0042], and an independent cohort confirmed an increased neuropathy risk (HR, 2.07; 95% CI, 1.14–3.77; P ¼ 0.017). Combining the series gave an estimated 2.5-fold higher risk of neuropathy (95% CI, 1.46–4.31; P ¼ 9.1 10 4). Conclusions: This first study sequencing EPHA genes revealed that low-frequency variants in EPHA6, EPHA5, and EPHA8 contribute to the susceptibility to paclitaxel-induced neuropathy. Furthermore, EPHA's neuronal injury repair function suggests that these genes might constitute important neuropathy markers for many neurotoxic drugs., Depto. de Enfermería, Fac. de Enfermería, Fisioterapia y Podología, TRUE, pub

Published
2024

9. Concomitant Medications and Risk of Chemotherapy-Induced Peripheral Neuropathy

Author

Sánchez Barroso, Lara, Apellaniz Ruiz, Maria, Gutiérrez Gutiérrez, Gerardo, Santos, María, Roldán Romero, Juan M., Curras, Maria, Remacha, Laura, Calsina, Bruna, Calvo, Isabel, Sereno, María, Merino, María, García Donas, Jesús, Castelo, Beatriz, Guerra, Eva, Letón, Rocio, Montero Conde, Cristina, Cascón, Alberto, Inglada Pérez, Lucía Silvia, Robledo, Mercedes, Rodríguez Antona, Cristina, Sánchez Barroso, Lara, Apellaniz Ruiz, Maria, Gutiérrez Gutiérrez, Gerardo, Santos, María, Roldán Romero, Juan M., Curras, Maria, Remacha, Laura, Calsina, Bruna, Calvo, Isabel, Sereno, María, Merino, María, García Donas, Jesús, Castelo, Beatriz, Guerra, Eva, Letón, Rocio, Montero Conde, Cristina, Cascón, Alberto, Inglada Pérez, Lucía Silvia, Robledo, Mercedes, and Rodríguez Antona, Cristina

Abstract

Background. Peripheral neuropathy is the dose-limiting toxicity of many oncology drugs, including paclitaxel. There is large interindividual variability in the neuropathy, and several risk factors have been proposed; however, many have not been replicated. Here we present a comprehensive study aimed at identifying treatment and physiopathology-related paclitaxel-induced neuropathy risk factors in a large cohort of well-characterized patients. Patients and Methods. Analyses included 503 patients with breast or ovarian cancer who received paclitaxel treatment. Paclitaxel dose modifications caused by the neuropathy were extracted from medical records and patients self-reported neuropathy symptoms were collected. Multivariate logistic regression analyses were performed to identify concomitant medications and comorbidities associated with paclitaxel-induced neuropathy. Results. Older patients had higher neuropathy: for each increase of 1 year of age, the risk of dose modifications and grade 3 neuropathy increased 4% and 5%, respectively. Cardiovascular drugs increased the risk of paclitaxel dose reductions (odds ratio [OR], 2.51; p = .006), with a stronger association for beta-adrenergic antagonists. The total number of concomitant medications also showed an association with dose modifications (OR, 1.25; p = .012 for each concomitant drug increase). A dose modification predictive model that included the new identified factors gave an area under the curve of 0.74 (p = 1.07 × 10−10). Preexisting nerve compression syndromes seemed to increase neuropathy risk. Conclusion. Baseline characteristics of the patients, including age and concomitant medications, could be used to identify individuals at high risk of neuropathy, personalizing chemotherapy treatment and reducing the risk of severe neuropathy., Depto. de Enfermería, Fac. de Enfermería, Fisioterapia y Podología, TRUE, pub

Published
2024

10. Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas

Author

Remacha, Laura, Pirman, David, Mahoney, Christopher E., Coloma, Javier, Calsina, Bruna, Currás-Freixes, Maria, Letón, Rocío, Torres-Pérez, Rafael, Richter, Susan, Pita, Guillermo, Herráez, Belén, Cianchetta, Giovanni, Honrado, Emiliano, Maestre, Lorena, Urioste, Miguel, Aller, Javier, García-Uriarte, Óscar, Gálvez, María Ángeles, Luque, Raúl M., Lahera, Marcos, Moreno-Rengel, Cristina, Eisenhofer, Graeme, Montero-Conde, Cristina, Rodríguez-Antona, Cristina, Llorca, Óscar, Smolen, Gromoslaw A., Robledo, Mercedes, and Cascón, Alberto

Published
2019
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11. Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

Author

Richter, Susan, Gieldon, Laura, Pang, Ying, Peitzsch, Mirko, Huynh, Thanh, Leton, Rocio, Viana, Bruna, Ercolino, Tonino, Mangelis, Anastasios, Rapizzi, Elena, Menschikowski, Mario, Aust, Daniela, Kroiss, Matthias, Beuschlein, Felix, Gudziol, Volker, Timmers, Henri J.L.M., Lenders, Jacques, Mannelli, Massimo, Cascon, Alberto, Pacak, Karel, Robledo, Mercedes, Eisenhofer, Graeme, and Klink, Barbara

Published
2019
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12. Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

Author

Calsina, Bruna, Currás-Freixes, Maria, Buffet, Alexandre, Pons, Tirso, Contreras, Laura, Letón, Rocío, Comino-Méndez, Iñaki, Remacha, Laura, Calatayud, María, Obispo, Berta, Martin, Antoine, Cohen, Regis, Richter, Susan, Balmaña, Judith, Korpershoek, Esther, Rapizzi, Elena, Deutschbein, Timo, Vroonen, Laurent, Favier, Judith, de Krijger, Ronald R., Fassnacht, Martin, Beuschlein, Felix, Timmers, Henri J., Eisenhofer, Graeme, Mannelli, Massimo, Pacak, Karel, Satrústegui, Jorgina, Rodríguez-Antona, Cristina, Amar, Laurence, Cascón, Alberto, Dölker, Nicole, Gimenez-Roqueplo, Anne-Paule, and Robledo, Mercedes

Published
2018
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13. Gain-of-function mutations in DNMT3A in patients with paraganglioma

Author

Remacha, Laura, Currás-Freixes, Maria, Torres-Ruiz, Raúl, Schiavi, Francesca, Torres-Pérez, Rafael, Calsina, Bruna, Letón, Rocío, Comino-Méndez, Iñaki, Roldán-Romero, Juan M, Montero-Conde, Cristina, Santos, María, Pérez, Lucía Inglada, Pita, Guillermo, Alonso, María R., Honrado, Emiliano, Pedrinaci, Susana, Crespo-Facorro, Benedicto, Percesepe, Antonio, Falcioni, Maurizio, Rodríguez-Perales, Sandra, Korpershoek, Esther, Ramón-Maiques, Santiago, Opocher, Giuseppe, Rodríguez-Antona, Cristina, Robledo, Mercedes, and Cascón, Alberto

Published
2018
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15. PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics

Author

Currás-Freixes, Maria, Piñeiro-Yañez, Elena, Montero-Conde, Cristina, Apellániz-Ruiz, María, Calsina, Bruna, Mancikova, Veronika, Remacha, Laura, Richter, Susan, Ercolino, Tonino, Rogowski-Lehmann, Natalie, Deutschbein, Timo, Calatayud, María, Guadalix, Sonsoles, Álvarez-Escolá, Cristina, Lamas, Cristina, Aller, Javier, Sastre-Marcos, Julia, Lázaro, Conxi, Galofré, Juan C., Patiño-García, Ana, Meoro-Avilés, Amparo, Balmaña-Gelpi, Judith, De Miguel-Novoa, Paz, Balbín, Milagros, Matías-Guiu, Xavier, Letón, Rocío, Inglada-Pérez, Lucía, Torres-Pérez, Rafael, Roldán-Romero, Juan M., Rodríguez-Antona, Cristina, Fliedner, Stephanie M.J., Opocher, Giuseppe, Pacak, Karel, Korpershoek, Esther, de Krijger, Ronald R., Vroonen, Laurent, Mannelli, Massimo, Fassnacht, Martin, Beuschlein, Felix, Eisenhofer, Graeme, Cascón, Alberto, Al-Shahrour, Fátima, and Robledo, Mercedes

Published
2017
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16. Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

Author

Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C., López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D., Galvez, María A., Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S., Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M.J., Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo, Mercedes, Cascón, Alberto, Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C., López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D., Galvez, María A., Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S., Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M.J., Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo, Mercedes, and Cascón, Alberto

Abstract

Introduction: The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes. Methods: Herein we uncover several cases with dual mutations in NF1 and other PPGL genes by targeted sequencing. We studied the molecular characteristics of the tumours with co-occurrent mutations, using omic tools to gain insight into the role of these events in tumour development. Results: Amongst 23 patients carrying germline NF1 mutations, targeted sequencing revealed additional pathogenic germline variants in DLST (n=1) and MDH2 (n=2), and two somatic mutations in H3-3A and PRKAR1A. Three additional patients, with somatic mutations in NF1 were found carrying germline pathogenic mutations in SDHB or DLST, and a somatic truncating mutation in ATRX. Two of the cases with dual germline mutations showed multiple pheochromocytomas or extra-adrenal paragangliomas - an extremely rare clinical finding in NF1 patients. Transcriptional and methylation profiling and metabolite assessment showed an “intermediate signature” to suggest that both variants had a pathological role in tumour development. Discussion: In conclusion, mutations affecting genes involved in different pathways (pseudohypoxic and receptor tyrosine kinase signalling) co-occurring in the same patient could provide a selective advantage for the development of PPGL, and explain the variable expressivity and incomplete penetrance observed in some patients.

Published
2023

17. Deubiquitinase USP9X loss sensitizes renal cancer cells to mTOR inhibition

Author

Ministerio de Ciencia e Innovación (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Fundación la Caixa, Ministerio de Educación, Cultura y Deporte (España), Roldán-Romero, Juan M., Valdivia, Carlos, Santos, María, Lanillos, Javier, Maroto, Pablo, Anguera, Georgia, Calsina, Bruna, Martínez-Montes, Ángel, Monteagudo, María, Mellid, Sara, Leandro, L. J., Montero-Conde, Cristina, Cascón, Alberto, Roncador, Giovanna, Coloma, Javier, Robledo, Mercedes, Rodriguez-Antona, Cristina, Ministerio de Ciencia e Innovación (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Fundación la Caixa, Ministerio de Educación, Cultura y Deporte (España), Roldán-Romero, Juan M., Valdivia, Carlos, Santos, María, Lanillos, Javier, Maroto, Pablo, Anguera, Georgia, Calsina, Bruna, Martínez-Montes, Ángel, Monteagudo, María, Mellid, Sara, Leandro, L. J., Montero-Conde, Cristina, Cascón, Alberto, Roncador, Giovanna, Coloma, Javier, Robledo, Mercedes, and Rodriguez-Antona, Cristina

Abstract

Mammalian target of rapamycin (mTOR) is a central regulator of mammalian metabolism and physiology. Aberrant hyperactivation of the mTOR pathway promotes tumor growth and metastasis, and can also promote tumor resistance to chemotherapy and cancer drugs; this makes mTOR an attractive cancer therapeutic target. mTOR inhibitors have been approved to treat cancer; however, the mechanisms underlying drug sensitivity remain poorly understood. Here, whole exome sequencing of three chromophobe renal cell carcinoma (chRCC) patients with exceptional mTOR inhibitor sensitivity revealed that all three patients shared somatic mutations in the deubiquitinase gene USP9X. The clonal characteristics of the mutations, which were amassed by studying multiple patients' primary and metastatic samples from various years, together with the low USP9X mutation rate in unselected chRCC series, reinforced a causal link between USP9X and mTOR inhibitor sensitivity. Rapamycin treatment of USP9X-depleted HeLa and renal cancer 786-O cells, along with the pharmacological inhibition of USP9X, confirmed that this protein plays a role in patients' sensitivity to mTOR inhibitors. USP9X was not found to exert a direct effect on mTORC1, but subsequent ubiquitylome analyses identified p62 as a direct USP9X target. Increased p62 ubiquitination and the augmented rapamycin effect upon bortezomib treatment, together with the results of p62 and LC3 immunofluorescence assays, suggested that dysregulated autophagy in USP9X-depleted cells can have a synergistic effect with mTOR inhibitors. In summary, we show that USP9X constitutes a potential novel marker of sensitivity to mTOR inhibitors in chRCC patients, and represents a clinical strategy for increasing the sensitivity to these drugs.

Published
2023

18. DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling

Author

Mellid, Sara, primary, García, Fernando, additional, Leandro‐García, Luis Javier, additional, Díaz‐Talavera, Alberto, additional, Martínez‐Montes, Ángel Mario, additional, Gil, Eduardo, additional, Calsina, Bruna, additional, Monteagudo, María, additional, Letón, Rocío, additional, Roldán‐Romero, Juan María, additional, Santos, María, additional, Lanillos, Javier, additional, Valdivia, Carlos, additional, Martínez‐Puente, Natalia, additional, de Nicolás‐Hernández, Javier, additional, Jiménez, Scherezade, additional, Pérez‐Martínez, Manuel, additional, Honrado, Emiliano, additional, Coloma, Javier, additional, Cerezo, Ana, additional, Santiveri, Clara María, additional, Esteller, Manel, additional, Campos‐Olivas, Ramón, additional, Caleiras, Eduardo, additional, Montero‐Conde, Cristina, additional, Rodríguez‐Antona, Cristina, additional, Muñoz, Javier, additional, Robledo, Mercedes, additional, and Cascón, Alberto, additional

Published
2023
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20. Supplementary Figure S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas

Author

Remacha, Laura, primary, Comino-Méndez, Iñaki, primary, Richter, Susan, primary, Contreras, Laura, primary, Currás-Freixes, María, primary, Pita, Guillermo, primary, Letón, Rocío, primary, Galarreta, Antonio, primary, Torres-Pérez, Rafael, primary, Honrado, Emiliano, primary, Jiménez, Scherezade, primary, Maestre, Lorena, primary, Moran, Sebastian, primary, Esteller, Manel, primary, Satrústegui, Jorgina, primary, Eisenhofer, Graeme, primary, Robledo, Mercedes, primary, and Cascón, Alberto, primary

Published
2023
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21. Supplementary Figure 2 from Regulatory Polymorphisms in β-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Jara, Carlos, primary, Gréen, Henrik, primary, Åvall-Lundqvist, Elisabeth, primary, Wheeler, Heather E., primary, Dolan, M. Eileen, primary, Inglada-Perez, Lucia, primary, Maliszewska, Agnieszka, primary, de Cubas, Aguirre A., primary, Comino-Méndez, Iñaki, primary, Mancikova, Veronika, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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22. Supplementary Figure Legends from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas

Author

Remacha, Laura, primary, Comino-Méndez, Iñaki, primary, Richter, Susan, primary, Contreras, Laura, primary, Currás-Freixes, María, primary, Pita, Guillermo, primary, Letón, Rocío, primary, Galarreta, Antonio, primary, Torres-Pérez, Rafael, primary, Honrado, Emiliano, primary, Jiménez, Scherezade, primary, Maestre, Lorena, primary, Moran, Sebastian, primary, Esteller, Manel, primary, Satrústegui, Jorgina, primary, Eisenhofer, Graeme, primary, Robledo, Mercedes, primary, and Cascón, Alberto, primary

Published
2023
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23. Supplementary Table 1 from Regulatory Polymorphisms in β-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Jara, Carlos, primary, Gréen, Henrik, primary, Åvall-Lundqvist, Elisabeth, primary, Wheeler, Heather E., primary, Dolan, M. Eileen, primary, Inglada-Perez, Lucia, primary, Maliszewska, Agnieszka, primary, de Cubas, Aguirre A., primary, Comino-Méndez, Iñaki, primary, Mancikova, Veronika, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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24. Supplementary Table S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas

Author

Remacha, Laura, primary, Comino-Méndez, Iñaki, primary, Richter, Susan, primary, Contreras, Laura, primary, Currás-Freixes, María, primary, Pita, Guillermo, primary, Letón, Rocío, primary, Galarreta, Antonio, primary, Torres-Pérez, Rafael, primary, Honrado, Emiliano, primary, Jiménez, Scherezade, primary, Maestre, Lorena, primary, Moran, Sebastian, primary, Esteller, Manel, primary, Satrústegui, Jorgina, primary, Eisenhofer, Graeme, primary, Robledo, Mercedes, primary, and Cascón, Alberto, primary

Published
2023
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25. Supplementary Figure 1 from Whole-Exome Sequencing Reveals Defective CYP3A4 Variants Predictive of Paclitaxel Dose-Limiting Neuropathy

Author

Apellániz-Ruiz, María, primary, Lee, Mi-Young, primary, Sánchez-Barroso, Lara, primary, Gutiérrez-Gutiérrez, Gerardo, primary, Calvo, Isabel, primary, García-Estévez, Laura, primary, Sereno, María, primary, García-Donás, Jesús, primary, Castelo, Beatriz, primary, Guerra, Eva, primary, Leandro-García, Luis J., primary, Cascón, Alberto, primary, Johansson, Inger, primary, Robledo, Mercedes, primary, Ingelman-Sundberg, Magnus, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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26. Supplementary Material UNMARKED from Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy

Author

Apellániz-Ruiz, María, primary, Tejero, Héctor, primary, Inglada-Pérez, Lucía, primary, Sánchez-Barroso, Lara, primary, Gutiérrez-Gutiérrez, Gerardo, primary, Calvo, Isabel, primary, Castelo, Beatriz, primary, Redondo, Andrés, primary, García-Donás, Jesús, primary, Romero-Laorden, Nuria, primary, Sereno, María, primary, Merino, María, primary, Currás-Freixes, María, primary, Montero-Conde, Cristina, primary, Mancikova, Veronika, primary, Åvall-Lundqvist, Elisabeth, primary, Green, Henrik, primary, Al-Shahrour, Fátima, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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27. Supplementary Figure 1 from Regulatory Polymorphisms in β-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Jara, Carlos, primary, Gréen, Henrik, primary, Åvall-Lundqvist, Elisabeth, primary, Wheeler, Heather E., primary, Dolan, M. Eileen, primary, Inglada-Perez, Lucia, primary, Maliszewska, Agnieszka, primary, de Cubas, Aguirre A., primary, Comino-Méndez, Iñaki, primary, Mancikova, Veronika, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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28. Supplementary Figures 1 - 3 from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Author

Burnichon, Nelly, primary, Cascón, Alberto, primary, Schiavi, Francesca, primary, Morales, Nicole Paes, primary, Comino-Méndez, Iñaki, primary, Abermil, Nasséra, primary, Inglada-Pérez, Lucía, primary, de Cubas, Aguirre A., primary, Amar, Laurence, primary, Barontini, Marta, primary, de Quirós, Sandra Bernaldo, primary, Bertherat, Jérôme, primary, Bignon, Yves-Jean, primary, Blok, Marinus J., primary, Bobisse, Sara, primary, Borrego, Salud, primary, Castellano, Maurizio, primary, Chanson, Philippe, primary, Chiara, María-Dolores, primary, Corssmit, Eleonora P.M., primary, Giacchè, Mara, primary, de Krijger, Ronald R., primary, Ercolino, Tonino, primary, Girerd, Xavier, primary, Gómez-García, Encarna B., primary, Gómez-Graña, Álvaro, primary, Guilhem, Isabelle, primary, Hes, Frederik J., primary, Honrado, Emiliano, primary, Korpershoek, Esther, primary, Lenders, Jacques W.M., primary, Letón, Rocío, primary, Mensenkamp, Arjen R., primary, Merlo, Anna, primary, Mori, Luigi, primary, Murat, Arnaud, primary, Pierre, Peggy, primary, Plouin, Pierre-François, primary, Prodanov, Tamara, primary, Quesada-Charneco, Miguel, primary, Qin, Nan, primary, Rapizzi, Elena, primary, Raymond, Victoria, primary, Reisch, Nicole, primary, Roncador, Giovanna, primary, Ruiz-Ferrer, Macarena, primary, Schillo, Frank, primary, Stegmann, Alexander P.A., primary, Suarez, Carlos, primary, Taschin, Elisa, primary, Timmers, Henri J.L.M., primary, Tops, Carli M.J., primary, Urioste, Miguel, primary, Beuschlein, Felix, primary, Pacak, Karel, primary, Mannelli, Massimo, primary, Dahia, Patricia L. M., primary, Opocher, Giuseppe, primary, Eisenhofer, Graeme, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Robledo, Mercedes, primary

Published
2023
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29. Supplementary Table 2 from Regulatory Polymorphisms in β-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Jara, Carlos, primary, Gréen, Henrik, primary, Åvall-Lundqvist, Elisabeth, primary, Wheeler, Heather E., primary, Dolan, M. Eileen, primary, Inglada-Perez, Lucia, primary, Maliszewska, Agnieszka, primary, de Cubas, Aguirre A., primary, Comino-Méndez, Iñaki, primary, Mancikova, Veronika, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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30. Supplementary Figure Legend from Regulatory Polymorphisms in β-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Jara, Carlos, primary, Gréen, Henrik, primary, Åvall-Lundqvist, Elisabeth, primary, Wheeler, Heather E., primary, Dolan, M. Eileen, primary, Inglada-Perez, Lucia, primary, Maliszewska, Agnieszka, primary, de Cubas, Aguirre A., primary, Comino-Méndez, Iñaki, primary, Mancikova, Veronika, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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31. Data from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Inglada-Pérez, Lucía, primary, Landa, Iñigo, primary, de Cubas, Aguirre A., primary, Maliszewska, Agnieszka, primary, Comino-Méndez, Iñaki, primary, Letón, Rocío, primary, Gómez-Graña, Álvaro, primary, Torres, Raúl, primary, Ramírez, Juan Carlos, primary, Álvarez, Sara, primary, Rivera, José, primary, Martínez, Constantino, primary, Lozano, María Luisa, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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37. Supplementary Information and Tables 1-5 from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

Author

Ruiz-Llorente, Sergio, primary, Montero-Conde, Cristina, primary, Milne, Roger L., primary, Moya, Christian M., primary, Cebrián, Arancha, primary, Letón, Rocío, primary, Cascón, Alberto, primary, Mercadillo, Fátima, primary, Landa, Iñigo, primary, Borrego, Salud, primary, de Nanclares, Guiomar Pérez, primary, Álvarez-Escolá, Cristina, primary, Díaz-Pérez, José Ángel, primary, Carracedo, Ángel, primary, Urioste, Miguel, primary, González-Neira, Anna, primary, Benítez, Javier, primary, Santisteban, Pilar, primary, Dopazo, Joaquín, primary, Ponder, Bruce A., primary, and Robledo, Mercedes, primary

Published
2023
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39. Supplementary Table 3 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Inglada-Pérez, Lucía, primary, Landa, Iñigo, primary, de Cubas, Aguirre A., primary, Maliszewska, Agnieszka, primary, Comino-Méndez, Iñaki, primary, Letón, Rocío, primary, Gómez-Graña, Álvaro, primary, Torres, Raúl, primary, Ramírez, Juan Carlos, primary, Álvarez, Sara, primary, Rivera, José, primary, Martínez, Constantino, primary, Lozano, María Luisa, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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40. Data from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

Author

Ruiz-Llorente, Sergio, primary, Montero-Conde, Cristina, primary, Milne, Roger L., primary, Moya, Christian M., primary, Cebrián, Arancha, primary, Letón, Rocío, primary, Cascón, Alberto, primary, Mercadillo, Fátima, primary, Landa, Iñigo, primary, Borrego, Salud, primary, de Nanclares, Guiomar Pérez, primary, Álvarez-Escolá, Cristina, primary, Díaz-Pérez, José Ángel, primary, Carracedo, Ángel, primary, Urioste, Miguel, primary, González-Neira, Anna, primary, Benítez, Javier, primary, Santisteban, Pilar, primary, Dopazo, Joaquín, primary, Ponder, Bruce A., primary, and Robledo, Mercedes, primary

Published
2023
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41. Supplementary Table 2 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Inglada-Pérez, Lucía, primary, Landa, Iñigo, primary, de Cubas, Aguirre A., primary, Maliszewska, Agnieszka, primary, Comino-Méndez, Iñaki, primary, Letón, Rocío, primary, Gómez-Graña, Álvaro, primary, Torres, Raúl, primary, Ramírez, Juan Carlos, primary, Álvarez, Sara, primary, Rivera, José, primary, Martínez, Constantino, primary, Lozano, María Luisa, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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42. Supplementary Table 1 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity

Author

Leandro-García, Luis J., primary, Leskelä, Susanna, primary, Inglada-Pérez, Lucía, primary, Landa, Iñigo, primary, de Cubas, Aguirre A., primary, Maliszewska, Agnieszka, primary, Comino-Méndez, Iñaki, primary, Letón, Rocío, primary, Gómez-Graña, Álvaro, primary, Torres, Raúl, primary, Ramírez, Juan Carlos, primary, Álvarez, Sara, primary, Rivera, José, primary, Martínez, Constantino, primary, Lozano, María Luisa, primary, Cascón, Alberto, primary, Robledo, Mercedes, primary, and Rodríguez-Antona, Cristina, primary

Published
2023
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43. Supplementary Methods, Figures 1-8, Video Legends 1-5 from Brick1 Is an Essential Regulator of Actin Cytoskeleton Required for Embryonic Development and Cell Transformation

Author

Escobar, Beatriz, primary, de Cárcer, Guillermo, primary, Fernández-Miranda, Gonzalo, primary, Cascón, Alberto, primary, Bravo-Cordero, José J., primary, Montoya, María C., primary, Robledo, Mercedes, primary, Cañamero, Marta, primary, and Malumbres, Marcos, primary

Published
2023
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44. Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

Author

Mellid, Sara, primary, Gil, Eduardo, additional, Letón, Rocío, additional, Caleiras, Eduardo, additional, Honrado, Emiliano, additional, Richter, Susan, additional, Palacios, Nuria, additional, Lahera, Marcos, additional, Galofré, Juan C., additional, López-Fernández, Adriá, additional, Calatayud, Maria, additional, Herrera-Martínez, Aura D., additional, Galvez, María A., additional, Matias-Guiu, Xavier, additional, Balbín, Milagros, additional, Korpershoek, Esther, additional, Lim, Eugénie S., additional, Maletta, Francesca, additional, Lider, Sofia, additional, Fliedner, Stephanie M. J., additional, Bechmann, Nicole, additional, Eisenhofer, Graeme, additional, Canu, Letizia, additional, Rapizzi, Elena, additional, Bancos, Irina, additional, Robledo, Mercedes, additional, and Cascón, Alberto, additional

Published
2023
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46. Differential Gene Expression of Medullary Thyroid Carcinoma Reveals Specific Markers Associated with Genetic Conditions

Author

Maliszewska, Agnieszka, Leandro-Garcia, Luis J., Castelblanco, Esmeralda, Macià, Anna, de Cubas, Aguirre, Goméz-López, Gonzalo, Inglada-Pérez, Lucía, Álvarez-Escolá, Cristina, De la Vega, Leticia, Letón, Rocío, Gómez-Graña, Álvaro, Landa, Iñigo, Cascón, Alberto, Rodríguez-Antona, Cristina, Borrego, Salud, Zane, Mariangela, Schiavi, Francesca, Merante-Boschin, Isabella, Pelizzo, Maria R., Pisano, David G., Opocher, Giuseppe, Matias-Guiu, Xavier, Encinas, Mario, and Robledo, Mercedes

Published
2013
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47. Deubiquitinase USP9X loss sensitizes renal cancer cells to mTOR inhibition.

Author

Roldán‐Romero, Juan M., Valdivia, Carlos, Santos, Maria, Lanillos, Javier, Maroto, Pablo, Anguera, Georgia, Calsina, Bruna, Martinez‐Montes, Angel, Monteagudo, María, Mellid, Sara, Leandro‐García, Luis J., Montero‐Conde, Cristina, Cascón, Alberto, Roncador, Giovanna, Coloma, Javier, Robledo, Mercedes, and Rodriguez‐Antona, Cristina

Subjects
RENAL cancer, BORTEZOMIB, RAPAMYCIN, CANCER cells, DRUG resistance in cancer cells, RENAL cell carcinoma, MTOR inhibitors
Abstract

Mammalian target of rapamycin (mTOR) is a central regulator of mammalian metabolism and physiology. Aberrant hyperactivation of the mTOR pathway promotes tumor growth and metastasis, and can also promote tumor resistance to chemotherapy and cancer drugs; this makes mTOR an attractive cancer therapeutic target. mTOR inhibitors have been approved to treat cancer; however, the mechanisms underlying drug sensitivity remain poorly understood. Here, whole exome sequencing of three chromophobe renal cell carcinoma (chRCC) patients with exceptional mTOR inhibitor sensitivity revealed that all three patients shared somatic mutations in the deubiquitinase gene USP9X. The clonal characteristics of the mutations, which were amassed by studying multiple patients' primary and metastatic samples from various years, together with the low USP9X mutation rate in unselected chRCC series, reinforced a causal link between USP9X and mTOR inhibitor sensitivity. Rapamycin treatment of USP9X‐depleted HeLa and renal cancer 786‐O cells, along with the pharmacological inhibition of USP9X, confirmed that this protein plays a role in patients' sensitivity to mTOR inhibitors. USP9X was not found to exert a direct effect on mTORC1, but subsequent ubiquitylome analyses identified p62 as a direct USP9X target. Increased p62 ubiquitination and the augmented rapamycin effect upon bortezomib treatment, together with the results of p62 and LC3 immunofluorescence assays, suggested that dysregulated autophagy in USP9X‐depleted cells can have a synergistic effect with mTOR inhibitors. In summary, we show that USP9X constitutes a potential novel marker of sensitivity to mTOR inhibitors in chRCC patients, and represents a clinical strategy for increasing the sensitivity to these drugs. [ABSTRACT FROM AUTHOR]

Published
2023
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48. Functional and in silico assessment of MAX variants of unknown significance

Author

Comino-Méndez, Iñaki, Leandro-García, Luis J, Montoya, Guillermo, Inglada-Pérez, Lucía, de Cubas, Aguirre A., Currás-Freixes, María, Tysoe, Carolyn, Izatt, Louise, Letón, Rocío, Gómez-Graña, Álvaro, Mancikova, Veronika, Apellániz-Ruiz, María, Mannelli, Massimo, Schiavi, Francesca, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Timmers, Henri J. L. M., Roncador, Giovanna, Garcia, Juan F., Rodríguez-Antona, Cristina, Robledo, Mercedes, and Cascón, Alberto

Published
2015
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49. Comprehensive molecular analysis of immortalization hallmarks in thyroid cancer reveals new prognostic markers

Author

Montero‐Conde, Cristina, primary, Leandro‐García, Luis Javier, additional, Martínez‐Montes, Ángel M., additional, Martínez, Paula, additional, Moya, Francisco J., additional, Letón, Rocío, additional, Gil, Eduardo, additional, Martínez‐Puente, Natalia, additional, Guadalix, Sonsoles, additional, Currás‐Freixes, Maria, additional, García‐Tobar, Laura, additional, Zafon, Carles, additional, Jordà, Mireia, additional, Riesco‐Eizaguirre, Garcilaso, additional, González‐García, Patricia, additional, Monteagudo, María, additional, Torres‐Pérez, Rafael, additional, Mancikova, Veronika, additional, Ruiz‐Llorente, Sergio, additional, Pérez‐Martínez, Manuel, additional, Pita, Guillermo, additional, Galofré, Juan Carlos, additional, Gonzalez‐Neira, Anna, additional, Cascón, Alberto, additional, Rodríguez‐Antona, Cristina, additional, Megías, Diego, additional, Blasco, María A., additional, Caleiras, Eduardo, additional, Rodríguez‐Perales, Sandra, additional, and Robledo, Mercedes, additional

Published
2022
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