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153 results on '"Comino-Méndez, Iñaki"'

2. Increased blood draws for ultrasensitive ctDNA and CTCs detection in early breast cancer patients

Author

Alba-Bernal, Alfonso, Godoy-Ortiz, Ana, Domínguez-Recio, María Emilia, López-López, Esperanza, Quirós-Ortega, María Elena, Sánchez-Martín, Victoria, Roldán-Díaz, María Dunia, Jiménez-Rodríguez, Begoña, Peralta-Linero, Jesús, Bellagarza-García, Estefanía, Troyano-Ramos, Laura, Garrido-Ruiz, Guadalupe, Hierro-Martín, M. Isabel, Vicioso, Luis, González-Ortiz, Álvaro, Linares-Valencia, Noelia, Velasco-Suelto, Jesús, Carbajosa, Guillermo, Garrido-Aranda, Alicia, Lavado-Valenzuela, Rocío, Álvarez, Martina, Pascual, Javier, Comino-Méndez, Iñaki, and Alba, Emilio

Published
2024
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3. NK cell-triggered CCL5/IFNγ-CXCL9/10 axis underlies the clinical efficacy of neoadjuvant anti-HER2 antibodies in breast cancer

Author

Santana-Hernández, Sara, Suarez-Olmos, Jesús, Servitja, Sonia, Berenguer-Molins, Pau, Costa-Garcia, Marcel, Comerma, Laura, Rea, Anna, Perera-Bel, Julia, Menendez, Silvia, Arpí, Oriol, Bermejo, Begoña, Martínez, María Teresa, Cejalvo, Juan Miguel, Comino-Méndez, Iñaki, Pascual, Javier, Alba, Emilio, López-Botet, Miguel, Rojo, Federico, Rovira, Ana, Albanell, Joan, and Muntasell, Aura

Published
2024
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4. Comparative study of droplet-digital PCR and absolute Q digital PCR for ctDNA detection in early-stage breast cancer patients

Author

Sánchez-Martín, Victoria, López-López, Esperanza, Reguero-Paredes, Diego, Godoy-Ortiz, Ana, Domínguez-Recio, Maria Emilia, Jiménez-Rodríguez, Begoña, Alba-Bernal, Alfonso, Elena Quirós-Ortega, Maria, Roldán-Díaz, María Dunia, Velasco-Suelto, Jesús, Linares-Valencia, Noelia, Garrido-Aranda, Alicia, Lavado-Valenzuela, Rocío, Álvarez, Martina, Pascual, Javier, Alba, Emilio, and Comino-Méndez, Iñaki

Published
2024
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6. Multiplexed RNA-FISH-guided Laser Capture Microdissection RNA Sequencing Improves Breast Cancer Molecular Subtyping, Prognostic Classification, and Predicts Response to Antibody Drug Conjugates

Author

Paul, Evan D., primary, Huraiová, Barbora, additional, Valková, Natália, additional, Birknerova, Natalia, additional, Gábrišová, Daniela, additional, Gubova, Sona, additional, Ignačáková, Helena, additional, Ondris, Tomáš, additional, Bendíková, Silvia, additional, Bíla, Jarmila, additional, Buranovská, Katarína, additional, Drobná, Diana, additional, Krchnakova, Zuzana, additional, Kryvokhyzha, Maryna, additional, Lovíšek, Daniel, additional, Mamoilyk, Viktoriia, additional, Mančíková, Veronika, additional, Vojtaššáková, Nina, additional, Ristová, Michaela, additional, Comino-Méndez, Iñaki, additional, Andrašina, Igor, additional, Morozov, Pavel, additional, Tuschl, Thomas, additional, Pareja, Fresia, additional, and Čekan, Pavol, additional

Published
2023
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7. Comparative study of droplet-digital PCR and absolute Q digital PCR for ctDNA detection in early-stage breast cancer patients

Author

Sánchez-Martín, Victoria, primary, López-López, Esperanza, additional, Reguero-Paredes, Diego, additional, Godoy-Ortiz, Ana, additional, Domínguez-Recio, Maria Emilia, additional, Jiménez-Rodríguez, Begoña, additional, Alba-Bernal, Alfonso, additional, Elena Quirós-Ortega, Maria, additional, Roldán-Díaz, María Dunia, additional, Velasco-Suelto, Jesús, additional, Linares-Valencia, Noelia, additional, Garrido-Aranda, Alicia, additional, Lavado-Valenzuela, Rocío, additional, Álvarez, Martina, additional, Pascual, Javier, additional, Alba, Emilio, additional, and Comino-Méndez, Iñaki, additional

Published
2023
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8. 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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9. 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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10. Abstract 6610: Increasing blood volumes to detect minimal residual disease in neoadjuvant-treated early breast cancer patients

Author

Alba-Bernal, Alfonso, primary, Godoy-Ortiz, Ana, additional, Domínguez-Recio, María Emilia, additional, Jimenez-Rodriguez, Begoña, additional, Quirós-Ortega, María Elena, additional, López-López, Esperanza, additional, Carbajosa-Antona, Guillermo, additional, Peralta-Linero, Jesús, additional, Vicioso, Luis, additional, Bellagarza-García, Estefanía, additional, Garrido-Ruiz, Guadalupe Dolores, additional, Robles-Podadera, Cynthia, additional, Garrido-Aranda, Alicia, additional, Roldán-Díaz, María Dunia, additional, Velasco-Suelto, Jesús, additional, Lavado-Valenzuela, Rocío, additional, Álvarez, Martina, additional, Ribelles, Nuria, additional, Pascual, Javier, additional, Alba, Emilio, additional, and Comino-Méndez, Iñaki, additional

Published
2023
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11. 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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12. supplemental legend from DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

Author

de Cubas, Aguirre A., primary, Korpershoek, Esther, primary, Inglada-Pérez, Lucia, primary, Letouzé, Eric, primary, Currás-Freixes, Maria, primary, Fernández, Agustin F., primary, Comino-Méndez, Iñaki, primary, Schiavi, Francesca, primary, Mancikova, Veronika, primary, Eisenhofer, Graeme, primary, Mannelli, Massimo, primary, Opocher, Guiseppe, primary, Timmers, Henri, primary, Beuschlein, Felix, primary, de Krijger, Ronald, primary, Cascon, Alberto, primary, Rodríguez-Antona, Cristina, primary, Fraga, Mario F., primary, Favier, Judith, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Robledo, Mercedes, primary

Published
2023
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13. Supplementary methods and Figure Legends from Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer

Author

Weigelt, Britta, primary, Comino-Méndez, Iñaki, primary, de Bruijn, Ino, primary, Tian, Lei, primary, Meisel, Jane L., primary, García-Murillas, Isaac, primary, Fribbens, Charlotte, primary, Cutts, Ros, primary, Martelotto, Luciano G., primary, Ng, Charlotte K.Y., primary, Lim, Raymond S., primary, Selenica, Pier, primary, Piscuoglio, Salvatore, primary, Aghajanian, Carol, primary, Norton, Larry, primary, Murali, Rajmohan, primary, Hyman, David M., primary, Borsu, Laetitia, primary, Arcila, Maria E., primary, Konner, Jason, primary, Reis-Filho, Jorge S., primary, Greenberg, Roger A., primary, Robson, Mark E., primary, and Turner, Nicholas C., primary

Published
2023
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14. Supplemental Figure 1 from DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

Author

de Cubas, Aguirre A., primary, Korpershoek, Esther, primary, Inglada-Pérez, Lucia, primary, Letouzé, Eric, primary, Currás-Freixes, Maria, primary, Fernández, Agustin F., primary, Comino-Méndez, Iñaki, primary, Schiavi, Francesca, primary, Mancikova, Veronika, primary, Eisenhofer, Graeme, primary, Mannelli, Massimo, primary, Opocher, Guiseppe, primary, Timmers, Henri, primary, Beuschlein, Felix, primary, de Krijger, Ronald, primary, Cascon, Alberto, primary, Rodríguez-Antona, Cristina, primary, Fraga, Mario F., primary, Favier, Judith, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Robledo, Mercedes, primary

Published
2023
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15. Supplementary Table S1 from Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer

Author

Weigelt, Britta, primary, Comino-Méndez, Iñaki, primary, de Bruijn, Ino, primary, Tian, Lei, primary, Meisel, Jane L., primary, García-Murillas, Isaac, primary, Fribbens, Charlotte, primary, Cutts, Ros, primary, Martelotto, Luciano G., primary, Ng, Charlotte K.Y., primary, Lim, Raymond S., primary, Selenica, Pier, primary, Piscuoglio, Salvatore, primary, Aghajanian, Carol, primary, Norton, Larry, primary, Murali, Rajmohan, primary, Hyman, David M., primary, Borsu, Laetitia, primary, Arcila, Maria E., primary, Konner, Jason, primary, Reis-Filho, Jorge S., primary, Greenberg, Roger A., primary, Robson, Mark E., primary, and Turner, Nicholas C., primary

Published
2023
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16. Supplementary Figure S1 from Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer

Author

Weigelt, Britta, primary, Comino-Méndez, Iñaki, primary, de Bruijn, Ino, primary, Tian, Lei, primary, Meisel, Jane L., primary, García-Murillas, Isaac, primary, Fribbens, Charlotte, primary, Cutts, Ros, primary, Martelotto, Luciano G., primary, Ng, Charlotte K.Y., primary, Lim, Raymond S., primary, Selenica, Pier, primary, Piscuoglio, Salvatore, primary, Aghajanian, Carol, primary, Norton, Larry, primary, Murali, Rajmohan, primary, Hyman, David M., primary, Borsu, Laetitia, primary, Arcila, Maria E., primary, Konner, Jason, primary, Reis-Filho, Jorge S., primary, Greenberg, Roger A., primary, Robson, Mark E., primary, and Turner, Nicholas C., primary

Published
2023
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17. 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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18. 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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19. 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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20. 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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21. 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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22. 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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23. 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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24. 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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25. Supplemental Table 2 from DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

Author

de Cubas, Aguirre A., primary, Korpershoek, Esther, primary, Inglada-Pérez, Lucia, primary, Letouzé, Eric, primary, Currás-Freixes, Maria, primary, Fernández, Agustin F., primary, Comino-Méndez, Iñaki, primary, Schiavi, Francesca, primary, Mancikova, Veronika, primary, Eisenhofer, Graeme, primary, Mannelli, Massimo, primary, Opocher, Guiseppe, primary, Timmers, Henri, primary, Beuschlein, Felix, primary, de Krijger, Ronald, primary, Cascon, Alberto, primary, Rodríguez-Antona, Cristina, primary, Fraga, Mario F., primary, Favier, Judith, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Robledo, Mercedes, primary

Published
2023
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26. Supplemental Table 1 from DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

Author

de Cubas, Aguirre A., primary, Korpershoek, Esther, primary, Inglada-Pérez, Lucia, primary, Letouzé, Eric, primary, Currás-Freixes, Maria, primary, Fernández, Agustin F., primary, Comino-Méndez, Iñaki, primary, Schiavi, Francesca, primary, Mancikova, Veronika, primary, Eisenhofer, Graeme, primary, Mannelli, Massimo, primary, Opocher, Guiseppe, primary, Timmers, Henri, primary, Beuschlein, Felix, primary, de Krijger, Ronald, primary, Cascon, Alberto, primary, Rodríguez-Antona, Cristina, primary, Fraga, Mario F., primary, Favier, Judith, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Robledo, Mercedes, primary

Published
2023
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27. 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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28. 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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29. 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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30. 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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31. Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis

Author

Jiménez-Rodríguez, Begoña, primary, Alba-Bernal, Alfonso, additional, López-López, Esperanza, additional, Quirós-Ortega, María Elena, additional, Carbajosa, Guillermo, additional, Garrido-Aranda, Alicia, additional, Álvarez, Martina, additional, Godoy-Ortiz, Ana, additional, Queipo-Ortuño, María Isabel, additional, Vicioso, Luis, additional, Díaz-Córdoba, Gema, additional, Roldán-Díaz, María Dunia, additional, Velasco-Suelto, Jesús, additional, Hernando, Cristina, additional, Bermejo, Begoña, additional, Julve-Parreño, Ana, additional, Lluch, Ana, additional, Pascual, Javier, additional, Comino-Méndez, Iñaki, additional, and Alba, Emilio, additional

Published
2022
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32. 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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33. Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene

Author

Cascón, Alberto, Comino-Méndez, Iñaki, Currás-Freixes, María, de Cubas, Aguirre A., Contreras, Laura, Richter, Susan, Peitzsch, Mirko, Mancikova, Veronika, Inglada-Pérez, Lucía, Pérez-Barrios, Andrés, Calatayud, María, Azriel, Sharona, Villar-Vicente, Rosa, Aller, Javier, Setién, Fernando, Moran, Sebastian, Garcia, Juan F., Río-Machín, Ana, Letón, Rocío, Gómez-Graña, Álvaro, Apellániz-Ruiz, María, Roncador, Giovanna, Esteller, Manel, Rodríguez-Antona, Cristina, Satrústegui, Jorgina, Eisenhofer, Graeme, Urioste, Miguel, and Robledo, Mercedes

Published
2015
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35. Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

Author

Currás-Freixes, Maria, Inglada-Pérez, Lucía, Mancikova, Veronika, Montero-Conde, Cristina, Letón, Rocío, Comino-Méndez, Iñaki, Apellániz-Ruiz, María, Sánchez-Barroso, Lara, Aguirre Sánchez-Covisa, Miguel, Alcázar, Victoria, Aller, Javier, Álvarez-Escolá, Cristina, Andía-Melero, Víctor M, Azriel-Mira, Sharona, Calatayud-Gutiérrez, María, Díaz, José Ángel, Díez-Hernández, Alberto, Lamas-Oliveira, Cristina, Marazuela, Mónica, Matias-Guiu, Xavier, Meoro-Avilés, Amparo, Patiño-García, Ana, Pedrinaci, Susana, Riesco-Eizaguirre, Garcilaso, Sábado-Álvarez, Constantino, Sáez-Villaverde, Raquel, Sainz de los Terreros, Amaya, Sanz Guadarrama, Óscar, Sastre-Marcos, Julia, Scolá-Yurrita, Bartolomé, Segura-Huerta, Ángel, Serrano-Corredor, Maria de la Soledad, Villar-Vicente, María Rosa, Rodríguez-Antona, Cristina, Korpershoek, Esther, Cascón, Alberto, and Robledo, Mercedes

Published
2015
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36. Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.

Author

Jiménez-Rodríguez, Begoña, Alba-Bernal, Alfonso, López-López, Esperanza, Quirós-Ortega, María Elena, Carbajosa, Guillermo, Garrido-Aranda, Alicia, Álvarez, Martina, Godoy-Ortiz, Ana, Queipo-Ortuño, María Isabel, Vicioso, Luis, Díaz-Córdoba, Gema, Roldán-Díaz, María Dunia, Velasco-Suelto, Jesús, Hernando, Cristina, Bermejo, Begoña, Julve-Parreño, Ana, Lluch, Ana, Pascual, Javier, Comino-Méndez, Iñaki, and Alba, Emilio

Subjects
CIRCULATING tumor DNA, CANCER diagnosis, GENE frequency, TUMOR grading
Abstract

Breast cancer (BC) is the most prevalent cancer in women. While usually detected when localized, invasive procedures are still required for diagnosis. Herein, we developed a novel ultrasensitive pipeline to detect circulating tumor DNA (ctDNA) in a series of 75 plasma samples from localized BC patients prior to any medical intervention. We first performed a tumor-informed analysis to correlate the mutations found in tumor tissue and plasma. Disregarding the tumor data next, we developed an approach to detect tumor mutations in plasma. We observed a mutation concordance between the tumor and plasma of 29.50% with a sensitivity down to 0.03% in mutant variant allele frequency (VAF). We detected mutations in 33.78% of the samples, identifying eight patients with plasma-only mutations. Altogether, we determined a specificity of 86.36% and a positive predictive value of 88.46% for BC detection. We demonstrated an association between higher ctDNA median VAF and higher tumor grade, multiple plasma mutations with a likelihood of relapse and more frequent TP53 plasma mutations in hormone receptor-negative tumors. Overall, we have developed a unique ultra-sensitive sequencing workflow with a technology not previously employed in early BC, paving the way for its application in BC screening. [ABSTRACT FROM AUTHOR]

Published
2023
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37. The spatially informed mFISHseq assay resolves biomarker discordance and predicts treatment response in breast cancer

Author

Paul, Evan D., Huraiová, Barbora, Valková, Natália, Matyasovska, Natalia, Gábrišová, Daniela, Gubová, Soňa, Ignačáková, Helena, Ondris, Tomáš, Gala, Michal, Barroso, Liliane, Bendíková, Silvia, Bíla, Jarmila, Buranovská, Katarína, Drobná, Diana, Krchňáková, Zuzana, Kryvokhyzha, Maryna, Lovíšek, Daniel, Mamoilyk, Viktoriia, Mancikova, Veronika, Vojtaššáková, Nina, Ristová, Michaela, Comino-Méndez, Iñaki, Andrašina, Igor, Morozov, Pavel, Tuschl, Thomas, Pareja, Fresia, Kather, Jakob N., and Čekan, Pavol

Published
2025
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38. Breast and Gut Microbiota Action Mechanisms in Breast Cancer Pathogenesis and Treatment

Author

Laborda-Illanes, Aurora, Sanchez-Alcoholado, Lidia, Dominguez-Recio, María Emilia, Jimenez-Rodriguez, Begoña, Lavado, Rocío, Comino-Méndez, Iñaki, Alba, Emilio, Queipo-Ortuño, María Isabel, [Laborda-Illanes,A, Sanchez-Alcoholado,L, Dominguez-Recio,ME, Jimenez-Rodriguez,B, Lavado,R, Comino-Méndez,I, Alba,E, Queipo-Ortuño,MI] Unidad de Gestión Clínica Intercentros de Oncología Médica, Hospitales Universitarios Regional y Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA)-CIMES-UMA, Málaga, Spain. [Laborda-Illanes,A, Sanchez-Alcoholado,L] Facultad de Medicina, Universidad de Málaga, Málaga, Spain., and This work was supported in part by PE-0106-2019 from the Consejería de Salud de la Junta de Andalucía, C19047-2018 from Fundación Unicaja and UMA18-FEDERJA-042 from UMA-FEDER. Maria Isabel Queipo-Ortuño is recipient of a 'Miguel Servet Type II' program (CPI13/00003) from ISCIII, co-funded by the Fondo Europeo de Desarrollo Regional-FEDER, Madrid, Spain and also belongs to the regional 'Nicolas Monardes' research program of the Consejería de Salud (C-0030-2018, Junta de Andalucía, Spain. Aurora Laborda-Illanes was recipient of a predoctoral grant PFIS-ISCIII (FI19-00112) co-funded by the Fondo Europeo de Desarrollo Regional-FEDER, Madrid, Spain. Lidia Sanchez-Alcoholado was recipient of a predoctoral grant (PE-0106-2019) from the Consejería de Salud y Familia (co-funded by the Fondo Europeo de Desarrollo Regional-FEDER, Andalucia, Spain).

Subjects
Prebióticos, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings], Breast cancer, Inmunidad, Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Sexual Development::Climacteric::Menopause::Postmenopause [Medical Subject Headings], Estrobolome, Immune responds, Diseases::Neoplasms::Neoplasms by Site::Breast Neoplasms [Medical Subject Headings], Inflammation, Inflamación, Microbiota, Probiotics, Anticancer therapy, Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Antineoplastic Agents [Medical Subject Headings], Probióticos, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::Epigenesis, Genetic [Medical Subject Headings], Phenomena and Processes::Immune System Phenomena::Immunity [Medical Subject Headings], Antineoplásicos, Prebiotics, Phenomena and Processes::Microbiological Phenomena::Microbiota [Medical Subject Headings], Check Tags::Female [Medical Subject Headings], Neoplasias de la mama, Technology and Food and Beverages::Food and Beverages::Food::Dietary Supplements [Medical Subject Headings], Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Dysbiosis [Medical Subject Headings], Epigenetic modulation, Chemicals and Drugs::Carbohydrates::Polysaccharides::Polysaccharides, Bacterial::Prebiotics [Medical Subject Headings], Epigénesis genética, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Inflammation [Medical Subject Headings]
Abstract

In breast cancer (BC) the employment of sequencing technologies for metagenomic analyses has allowed not only the description of the overall metagenomic landscape but also the specific microbial changes and their functional implications. Most of the available data suggest that BC is related to bacterial dysbiosis in both the gut microenvironment and breast tissue. It is hypothesized that changes in the composition and functions of several breast and gut bacterial taxa may contribute to BC development and progression through several pathways. One of the most prominent roles of gut microbiota is the regulation of steroid-hormone metabolism, such as estrogens, a component playing an important role as risk factor in BC development, especially in postmenopausal women. On the other hand, breast and gut resident microbiota are the link in the reciprocal interactions between cancer cells and their local environment, since microbiota are capable of modulating mucosal and systemic immune responses. Several in vivo and in vitro studies show remarkable evidence that diet, probiotics and prebiotics could exert important anticarcinogenic effects in BC. Moreover, gut microbiota have an important role in the metabolism of chemotherapeutic drugs and in the activity of immunogenic chemotherapies since they are a potential dominant mediator in the response to cancer therapy. Then, the microbiome impact in BC is multi-factorial, and the gut and breast tissue bacteria population could be important in regulating the local immune system, in tumor formation and progression and in therapy response and/or resistance. Yes

Published
2020

39. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis

Author

Comino-Méndez, Iñaki, de Cubas, Aguirre A., Bernal, Carmen, Álvarez-Escolá, Cristina, Sánchez-Malo, Carolina, Ramírez-Tortosa, César L., Pedrinaci, Susana, Rapizzi, Elena, Ercolino, Tonino, Bernini, Giampaolo, Bacca, Alessandra, Leto[Combining Acute Accent]n, Rocío, Pita, Guillermoo[Combining Acute Accent], Alonso, María R., Leandro-García, Luis J., Gómez-Graña, Álvaro, Inglada-Pérez, Lucía, Mancikova, Veronika, Rodríguez-Antona, Cristina, Mannelli, Massimo, Robledo, Mercedes, and Cascón, Alberto

Published
2013
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41. Assessment of Molecular Relapse Detection in Early-Stage Breast Cancer

Author

Garcia-Murillas, Isaac, primary, Chopra, Neha, additional, Comino-Méndez, Iñaki, additional, Beaney, Matthew, additional, Tovey, Holly, additional, Cutts, Rosalind J., additional, Swift, Claire, additional, Kriplani, Divya, additional, Afentakis, Maria, additional, Hrebien, Sarah, additional, Walsh-Crestani, Giselle, additional, Barry, Peter, additional, Johnston, Stephen R. D., additional, Ring, Alistair, additional, Bliss, Judith, additional, Russell, Simon, additional, Evans, Abigail, additional, Skene, Anthony, additional, Wheatley, Duncan, additional, Dowsett, Mitch, additional, Smith, Ian E., additional, and Turner, Nicholas C., additional

Published
2019
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43. Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer

Author

Weigelt, Britta, primary, Comino-Méndez, Iñaki, additional, de Bruijn, Ino, additional, Tian, Lei, additional, Meisel, Jane L., additional, García-Murillas, Isaac, additional, Fribbens, Charlotte, additional, Cutts, Ros, additional, Martelotto, Luciano G., additional, Ng, Charlotte K.Y., additional, Lim, Raymond S., additional, Selenica, Pier, additional, Piscuoglio, Salvatore, additional, Aghajanian, Carol, additional, Norton, Larry, additional, Murali, Rajmohan, additional, Hyman, David M., additional, Borsu, Laetitia, additional, Arcila, Maria E., additional, Konner, Jason, additional, Reis-Filho, Jorge S., additional, Greenberg, Roger A., additional, Robson, Mark E., additional, and Turner, Nicholas C., additional

Published
2017
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44. Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas

Author

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

Published
2017
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45. The identification of new familial pheochromocytoma/paraganglioma genes using whole exome sequencing

Author

Comino Méndez, Iñaki, Cascón Soriano, Alberto, Robledo Batanero, Mercedes, UAM. Departamento de Bioquímica, and Centro Nacional de Investigaciones Oncológicas (CNIO)

Subjects
Medicina, Enefermedades hereditarias - Tesis doctorales, Genética humana - Tesis doctorales
Abstract

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Bioquímica. Fecha de lectura: 30-04-2015, Los feocromocitomas (PCC) son tumores neuroendocrinos, desarrollados a partir del tejido cromafín de la médula adrenal, que suelen causar hipertensión arterial por sobre-secreción de catecolaminas. Los paragangliomas (PGL) son PCCs, en su mayoría secretores y con un gran riesgo de malignizar, que se desarrollan a partir de paraganglios localizados fundamentalmente en la región intra-abdominal o torácica. Algunos PGLs pueden desarrollarse en la región de la cabeza y el cuello, y en esa localización suelen comportarse como masas benignas no secretoras. Los PCCs presentan una incidencia anual en población española de 2 casos por millón de habitantes y son por tanto una enfermedad rara. Tanto la secuenciación masiva del genoma completo, como la limitada a las regiones codificantes (secuenciación exómica, SE), se han convertido a lo largo de los últimos años en herramientas de gran utilidad para el descubrimiento de genes de susceptibilidad responsables de enfermedades mendelianas. De este modo, el objetivo principal de esta tesis doctoral fue la identificación de nuevos genes de susceptibilidad implicados en el desarrollo de PCC/PGL mediante el uso de la SE aplicada a 3 proyectos independientes. En el primer proyecto, se llevó a cabo la SE de tres pacientes no relacionados, con antecedentes familiares de la enfermedad y sin mutaciones en ninguno de los genes conocidos. Los pacientes fueron seleccionados como candidatos para el estudio debido a que sus correspondientes tumores presentaban perfiles de expresión muy homogéneos. El filtrado y posterior análisis de los datos de secuenciación permitió identificar mutaciones germinales patogénicas en el gen MAX en los tres pacientes. Además, la pérdida de heterocigosidad del alelo silvestre, la ausencia de proteína MAX en los tumores y el descubrimiento de otras 5 mutaciones en pacientes aquejados de la enfermedad permitió demostrar que MAX constituía un nuevo gen supresor de tumores asociado con el desarrollo de PCC hereditario. En un segundo trabajo, el estudio de una serie compuesta por más de 1500 pacientes no relacionados permitió establecer tanto la prevalencia de las mutaciones en MAX en pacientes con PCC/PGL (1,12%), como el fenotipo asociado a dichas mutaciones. Por último, con el objeto de determinar la patogenicidad de las variantes con significado desconocido halladas en el gen MAX, se llevó a cabo un estudio funcional de las mismas en células de PCC de rata (PC12) y se implementó una herramienta de predicción in silico basada en el consenso de 5 predictores. En el segundo proyecto, los candidatos a estudio mediante SE (3 tríos paciente/madre/padre) fueron seleccionados en base a la presencia de una característica fenotípica poco frecuente en pacientes con PCC/PGL: policitemia idiopática. Durante el análisis de los datos, se publicó el descubrimiento de mutaciones somáticas post-zigóticas en el gen EPAS1 en pacientes con PCC/PGL múltiple y policitemia idiopática. El análisis de EPAS1 en los correspondientes tumores de los pacientes seleccionados para la SE, reveló la presencia de mutaciones somáticas en mosaico en el gen EPAS1 en todos ellos. Además, el estudio de una serie adicional de tumores identificó mutaciones somáticas en tumores de pacientes sin policitemia. Finalmente, se identificó la ganancia de la región 2p como exclusiva de tumores con mutación en EPAS1. En el tercer proyecto, se llevó a cabo una selección de pacientes basada en la presencia de tumores múltiples (más de 5) como indicador de la existencia de una enfermedad hereditaria. Durante el filtrado de las variantes encontradas en uno de los pacientes seleccionados, se identificó una mutación en el gen MDH2, implicado en el ciclo de Krebs. La ausencia de RNAm, proteína y actividad enzimática malato deshidrogenasa, así como el diagnóstico de la enfermedad en un pariente portador de la variante permitió concluir que el gen MDH2 es un nuevo gen supresor tumoral responsable de susceptibilidad a desarrollar PCC/PGL. La identificación de este segundo gen de susceptibilidad a desarrollar PCC/PGL demuestra la eficacia de la SE en la identificación de nuevos genes responsables de enfermedades mendelianas., Pheochromocytomas (PCCs) are neuroendocrine tumors arising from the medulla of the adrenal gland that usually cause hypertension due to oversecretion of cathecolamines. On the other hand, paragangliomas (PGLs) are normally secretor tumors with high risk of malignancy that arise from the paraganglia of the intra-abdominal or thoracic regions. Some PGLs arise in the head and neck region, usually as benign, non-secretor tumors. PCC/PGL is a rare disease, with an incidence in the Spanish population of approximately 2 cases per million habitants. High-throughput techniques such as wholegenome sequencing (WGS) and whole-exome sequencing (WES) are nowadays widely applied to discover susceptibility genes involved in mendelian diseases. Thus, the main objective of this thesis was to identify new genes related to the susceptibility to develop PCC/PGL by applying WES in three independent projects. In the first project, we applied WES to three unrelated patients with a family history of disease testing negative for mutations in the major PCC/PGL susceptibility genes. The three patients were selected because they shared a common homogeneous transcriptional profile, suggesting a common underlying genetic alteration. The variant filtering process and the posterior analysis of the WES data allowed us to identify pathogenic germline mutations in the MAX (MYC associated factor X) gene in all three patients. Moreover, loss of heterozygosity of the wild type allele, loss of the protein in the tumors and the identification of MAX mutations in additional patients with the disease, together indicated that MAX constitutes a novel tumor suppressor gene. In a posterior international collaborative study, we recruited more than 1500 unrelated patients and established the prevalence of MAX mutations to be 1.12%; we also characterized the associated phenotype. Finally, we developed a functional model to determine the pathogenicity of variants of unknown significant (VUS) found in MAX. This model was implemented based on a consensus in silico prediction obtained from five algorithms available online. In the second project, the selection of three trios (patient/mother/father) was based on the presence of a very infrequent phenotypic characteristic in patients suffering for PCC/PGL: idiopathic polycythemia. While the analysis of the WES data was underway, a study was published reporting the presence of somatic post-zygotic mutations in the gene EPAS1 (HIF2A) in patients presenting multiple PCC/PGL and idiopathic polycythemia. Our posterior screening for EPAS1 mutations in the tumors from the index patients revealed the presence of somatic mutations in all of them. In addition, the analysis of an additional series of tumors identified somatic mutations in tumors from patients without polycythemia. Finally, we indentified a gain of the chromosomic region 2p exclusive to tumors harboring EPAS1 mutations. In the last WES Project, we selected patients based on the presence of multiple (more than five) tumors as phenotypic marker of hereditary disease. We identified a splice-site mutation affecting the MDH2 gene involved in the Krebs cycle. The observed absence of the messenger RNA, protein and malate dehydrogenase enzymatic activity, as well as the positive diagnosis for the disease of a family member, led us to conclude that MDH2 is a novel tumor suppressor gene implicated in susceptibility to develop PCC/PGL. The identification of this second susceptibility gene implicated in PCC/PGL development demonstrates the efficacy of WES in discovering susceptibility genes involved in Mendelian diseases

Published
2015

46. DNA methylation profiling in pheochromocytoma and paraganglioma reveals diagnostic and prognostic markers

Author

De Cubas, Aguirre A., Korpershoek, Esther, Inglada-Pérez, Lucia, Letouzé, Eric, Currás-Freixes, Maria, Fernández, Agustin F., Comino-Méndez, Iñaki, Schiavi, Francesca, Mancikova, Veronika, Eisenhofer, Graeme, Mannelli, Massimo, Opocher, Guiseppe, Timmers, Henri, Beuschlein, Felix, De Krijger, Ronald, Cascon, Alberto, Rodríguez-Antona, Cristina, Fraga, Mario F., Favier, Judith, Gimenez-Roqueplo, Anne Paule, Robledo, Mercedes, De Cubas, Aguirre A., Korpershoek, Esther, Inglada-Pérez, Lucia, Letouzé, Eric, Currás-Freixes, Maria, Fernández, Agustin F., Comino-Méndez, Iñaki, Schiavi, Francesca, Mancikova, Veronika, Eisenhofer, Graeme, Mannelli, Massimo, Opocher, Guiseppe, Timmers, Henri, Beuschlein, Felix, De Krijger, Ronald, Cascon, Alberto, Rodríguez-Antona, Cristina, Fraga, Mario F., Favier, Judith, Gimenez-Roqueplo, Anne Paule, and Robledo, Mercedes

Published
2015

47. DNA methylation profiling in pheochromocytoma and paraganglioma reveals diagnostic and prognostic markers

Author

Pathologie patiënten zorg, De Cubas, Aguirre A., Korpershoek, Esther, Inglada-Pérez, Lucia, Letouzé, Eric, Currás-Freixes, Maria, Fernández, Agustin F., Comino-Méndez, Iñaki, Schiavi, Francesca, Mancikova, Veronika, Eisenhofer, Graeme, Mannelli, Massimo, Opocher, Guiseppe, Timmers, Henri, Beuschlein, Felix, De Krijger, Ronald, Cascon, Alberto, Rodríguez-Antona, Cristina, Fraga, Mario F., Favier, Judith, Gimenez-Roqueplo, Anne Paule, Robledo, Mercedes, Pathologie patiënten zorg, De Cubas, Aguirre A., Korpershoek, Esther, Inglada-Pérez, Lucia, Letouzé, Eric, Currás-Freixes, Maria, Fernández, Agustin F., Comino-Méndez, Iñaki, Schiavi, Francesca, Mancikova, Veronika, Eisenhofer, Graeme, Mannelli, Massimo, Opocher, Guiseppe, Timmers, Henri, Beuschlein, Felix, De Krijger, Ronald, Cascon, Alberto, Rodríguez-Antona, Cristina, Fraga, Mario F., Favier, Judith, Gimenez-Roqueplo, Anne Paule, and Robledo, Mercedes

Published
2015

48. DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

Author

de Cubas, Aguirre A., primary, Korpershoek, Esther, additional, Inglada-Pérez, Lucia, additional, Letouzé, Eric, additional, Currás-Freixes, Maria, additional, Fernández, Agustin F., additional, Comino-Méndez, Iñaki, additional, Schiavi, Francesca, additional, Mancikova, Veronika, additional, Eisenhofer, Graeme, additional, Mannelli, Massimo, additional, Opocher, Guiseppe, additional, Timmers, Henri, additional, Beuschlein, Felix, additional, de Krijger, Ronald, additional, Cascon, Alberto, additional, Rodríguez-Antona, Cristina, additional, Fraga, Mario F., additional, Favier, Judith, additional, Gimenez-Roqueplo, Anne-Paule, additional, and Robledo, Mercedes, additional

Published
2015
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49. VEGF, VEGFR3, and PDGFRB Protein Expression Is Influenced by RAS Mutations in Medullary Thyroid Carcinoma

Author

Mancikova, Veronika, primary, Inglada-Pérez, Lucía, additional, Curras-Freixes, Maria, additional, de Cubas, Aguirre A., additional, Gómez, Álvaro, additional, Letón, Rocío, additional, Kersten, Iris, additional, Leandro-García, Luis Javier, additional, Comino-Méndez, Iñaki, additional, Apellaniz-Ruiz, María, additional, Sánchez, Lara, additional, Cascón, Alberto, additional, Sastre-Marcos, Julia, additional, García, Juan F., additional, Rodríguez-Antona, Cristina, additional, and Robledo, Mercedes, additional

Published
2014
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50. Gain-of-function mutations in DNMT3Ain 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

Abstract

The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of disease in patients strongly suspected of having hereditary tumors.

Published
2018
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