Grupo de Cáncer Endocrino Hereditario

Mercedes Robledo Jefe de Grupo
T +34 917328000 (Ext 3320)
mrobledo@cnio.es

Investigadores Científicos

Alberto Cascón

Becarios Post-doctorales

Luis Javier Leandro
Ángel Mario Martínez
Cristina Montero
Clara Reglero

Becarios Pre-Doctorales

Javier de Nicolás
Sara Mellid
María Monteagudo
Carlos Valdivia

Técnicos de Laboratorio

Alicia Arenas
Ester Arroba
Mariolga Berrizbeitia
Rocío Letón
Gabriela Roberta Radu

Científico Visitante

Alberto Díaz

Our Group is mainly interested in identifying genetic risk factors involved in endocrine tumour susceptibility. Through a comprehensive analysis of tumour genomic features, we have been able to propose diagnostic and prognostic markers, to identify altered pathways that could be therapeutically targeted, and to identify new major susceptibility genes.

We are also interested in defining markers associated with differences in anticancer drug response and toxicity. We are applying targeted and whole-exome next-generation sequencing to a large series of clinically well-characterised patients. The aim is to identify new therapeutic approaches to personalise cancer treatment. These efforts will collectively improve the diagnosis, prognosis, and treatment of patients.

Publicaciones

Calsina B, Piñeiro-Yáñez E, Martínez-Montes ÁM, Caleiras E, Fernández-Sanromán Á, Monteagudo M, Torres-Pérez R, Fustero-Torre C, Pulgarín-Alfaro M, Gil E, Letón R, Jiménez S, García-Martín S, Martin MC, Roldán-Romero JM, Lanillos J, Mellid S, Santos M, Díaz-Talavera A, Rubio Á, González P, Hernando B, Bechmann N, Dona M, Calatayud M, Guadalix S, Álvarez-Escolá C, Regojo RM, Aller J, Del Olmo-Garcia MI, López-Fernández A, Fliedner SMJ, Rapizzi E, Fassnacht M, Beuschlein F, Quinkler M, Toledo RA, Mannelli M, Timmers HJ, Eisenhofer G, Rodríguez-Perales S, Domínguez O, Macintyre G, Currás-Freixes M, Rodríguez-Antona C, Cascón A, Leandro-García LJ, Montero-Conde C, Roncador G, García-García JF, Pacak K, Al-Shahrour F, Robledo M. (2023). Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma. Nat Commun 14, 1122. Publicación CNIO.
Piroli GG, Manuel AM, McCain RS, Smith HH, Ozohanics O, Mellid S, Cox JH, Cotham WE, Walla MD, Cascón A, Ambrus A, Frizzell N. (2023). Defective function of α-ketoglutarate dehydrogenase exacerbates mitochondrial ATP deficits during complex I deficiency. Redox Biol 67, . Publicación CNIO.
Martin-Broto J, Valverde C, Hindi N, Vincenzi B, Martinez-Trufero J, Grignani G, Italiano A, Lavernia J, Vallejo A, Tos PD, Le Loarer F, Gonzalez-Campora R, Ramos R, Hernández-Jover D, Gutierrez A, Serrano C, Monteagudo M, Letón R, Robledo M, Moura DS, Martin-Ruiz M, López-Guerrero JA, Cruz J, Fernandez-Serra A, Blay JY, Fumagalli E, Martinez-Marin V. (2023). REGISTRI: Regorafenib in first-line of KIT/PDGFRA wild type metastatic GIST: a collaborative Spanish (GEIS), Italian (ISG) and French Sarcoma Group (FSG) phase II trial. Mol Can 22, 127. Publicación CNIO.
Roldán-Romero JM, Valdivia C, Santos M, Lanillos J, Maroto P, Anguera G, Calsina B, Martinez-Montes A, Monteagudo M, Mellid S, Leandro-García LJ, Montero-Conde C, Cascón A, Roncador G, Coloma J, Robledo M, Rodriguez-Antona C. (2023). Deubiquitinase USP9X loss sensitizes renal cancer cells to mTOR inhibition. Int J Cancer (in press). Publicación CNIO.
Fischer A, Kloos S, Remde H, Dischinger U, Pamporaki C, Timmers HJLM, Robledo M, Fliedner SMJ, Wang K, Maurer J, Reul A, Bechmann N, Hantel C, Mohr H, Pellegata NS, Bornstein SR, Kroiss M, Auernhammer CJ, Reincke M, Pacak K, Grossman AB, Beuschlein F, Nölting S. (2023). Responses to systemic therapy in metastatic pheochromocytoma/paraganglioma – A retrospective multi-center cohort study. Eur J Endocrinol (in press). Publicación CNIO.
Santos M, Lanillos J, Caleiras E, Valdivia C, Roldan-Romero JM, Laínez N, Puente J, Beuselinck B, Oudard S, Zucman-Rossi J, Navarro P, Robledo M, Castellano D, de Velasco G, García-Donas J, Rodriguez-Antona C. (2023). PBRM1 and KDM5C cooperate to define high-angiogenesis tumors and increased antiangiogenic response in renal cancer. Am J Cancer Res 13, 2116-2125. Publicación CNIO.
Cascón A, Calsina B, Monteagudo M, Mellid S, Díaz-Talavera A, Currás-Freixes M, Robledo M. (2023). Genetic bases of pheochromocytoma and paraganglioma. J Mol Endocrinol 70, e220167. Publicación CNIO.
Fischer A, Kloos S, Maccio U, Friemel J, Remde H, Fassnacht M, Pamporaki C, Eisenhofer G, Timmers HJLM, Robledo M, Fliedner SMJ, Wang K, Maurer J, Reul A, Zitzmann K, Bechmann N, Žygiene G, Richter S, Hantel C, Vetter D, Lehmann K, Mohr H, Pellegata NS, Ullrich M, Pietzsch J, Ziegler CG, Bornstein SR, Kroiss M, Reincke M, Pacak K, Grossman AB, Beuschlein F, Nölting S. (2023). Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses. J Clin Endocrinol Metab (in press). Publicación CNIO.
Gimenez-Roqueplo AP, Robledo M, Dahia PLM. (2023). Update on the genetics of paragangliomas. Endocr-Relat Cancer 30, e220373. Publicación CNIO.
Mellid S, Gil E, Letón R, Caleiras E, Honrado E, Richter S, Palacios N, Lahera M, Galofré JC, López-Fernández A, Calatayud M, Herrera-Martínez AD, Galvez MA, Matias-Guiu X, Balbín M, Korpershoek E, Lim ES, Maletta F, Lider S, Fliedner SMJ, Bechmann N, Eisenhofer G, Canu L, Rapizzi E, Bancos I, Robledo M, Cascón A. (2023). Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma. Front Endocrinol 13, 1070074. Publicación CNIO.
Karakaya S, Gunnesson L, Elias E, Martos-Salvo P, Robledo M, Nilsson O, Wängberg B, Abel F, Påhlman S, Muth A, Mohlin S. (2023). Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma. Sci Rep 13, 11588. Publicación CNIO.
Leandro-García LJ, Landa I (2023). Mechanistic Insights of Thyroid Cancer Progression. Endocrinology 164, bqad118. Publicación CNIO.
Mellid S, García F, Leandro-García LJ, Díaz-Talavera A, Martínez-Montes ÁM, Gil E, Calsina B, Monteagudo M, Letón R, Roldán-Romero JM, Santos M, Lanillos J, Valdivia C, Martínez-Puente N, de Nicolás-Hernández J, Jiménez S, Pérez-Martínez M, Honrado E, Coloma J, Cerezo A, Santiveri CM, Esteller M, Campos-Olivas R, Caleiras E, Montero-Conde C, Rodríguez-Antona C, Muñoz J, Robledo M, Cascón A. (2023). DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling. Cancer Commun 43, 838-843. Publicación CNIO.
Montero-Conde C, Leandro-García LJ, Martínez-Montes ÁM, Martínez P, Moya FJ, Letón R, Gil E, Martínez-Puente N, Guadalix S, Currás-Freixes M, García-Tobar L, Zafon C, Jordà M, Riesco-Eizaguirre G, González-García P, Monteagudo M, Torres-Pérez R, Mancikova V, Ruiz-Llorente S, Pérez-Martínez M, Pita G, Galofré JC, Gonzalez-Neira A, Cascón A, Rodríguez-Antona C, Megías D, Blasco MA, Caleiras E, Rodríguez-Perales S, Robledo M (2022). Comprehensive molecular analysis of immortalization hallmarks in thyroid cancer reveals new prognostic markers. Clin Transl Med 12, e1001. Publicación CNIO.
Bechmann N, Calsina B, Richter S, Pietzsch J. (2022). Therapeutic Potential of Nitric Oxide-Releasing Selective Estrogen Receptor Modulators in Malignant Melanoma. J Invest Dermatol (in press). Publicación CNIO.
McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG (2022). Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther 111, 366-372. Publicación CNIO.
Rodriguez-Antona C, Savieo JL, Lauschke VM, Sangkuhl K, Drögemöller BI, Wang D, van Schaik RHN, Gilep AA, Peter AP, Boone EC, Ramey BE, Klein TE, Whirl-Carrillo M, Pratt VM, Gaedigk A (2022). PharmVar GeneFocus: CYP3A5. Clin Pharmacol Ther (in press). Publicación CNIO.
Jankovic Miljus J, Guillén-Sacoto MA, Makiadi-Alvarado J, Wert-Lamas L, Ramirez-Moya J, Robledo M, Santisteban P, Riesco-Eizaguirre G (2022). Circulating MicroRNA Profiles as Potential Biomarkers for differentiated thyroid cancer recurrence. J Clin Endocrinol Metab 107, 1280-1293. Publicación CNIO.
Lanillos J, Carcajona M, Maietta P, Alvarez S, Rodriguez-Antona C (2022). Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data. NPJ GENOM MED 7, 12. Publicación CNIO.
Richter S, Qiu B, Ghering M, Kunath C, Constantinescu G, Luths C, Pamporaki C, Bechmann N, Meuter L, Kwapiszewska A, Deutschbein T, Nölting S, Peitzsch M, Robledo M, Prejbisz A, Pacak K, Gudziol V, Timmers HJ, Eisenhofer G. (2022). Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine. Endocr-Relat Cancer 29, 213-224. Publicación CNIO.
Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A. (2022). Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants. Sci Rep 12, 8547. Publicación CNIO.
Bliziotis NG, Kluijtmans LAJ, Soto S, Tinnevelt GH, Langton K, Robledo M, Pamporaki C, Engelke UFH, Erlic Z, Engel J, Deutschbein T, Nölting S, Prejbisz A, Richter S, Prehn C, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Eisenhofer G, Beuschlein F, Kroiss M, Wevers RA, Jansen JJ, Deinum J, Timmers HJLM. (2022). Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma. Endocrine 75, 254-265. Publicación CNIO.
Pena-Couso L, Ercibengoa M, Mercadillo F, Gómez-Sánchez D, Inglada-Pérez L, Santos M, Lanillos J, Gutiérrez-Abad D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez-Antona C, Perea J, Urioste M; PHTS Working Group. (2022). Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients. Orphanet J Rare Dis 17, 85. Publicación CNIO.
Díaz-Talavera A, Montero-Conde C, Leandro-García LJ, Robledo M. (2022). PrimPol: A Breakthrough among DNA Replication Enzymes and a Potential New Target for Cancer Therapy. Biomolecules 12, 248. Publicación CNIO.
Amar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, Jimenez C, Kunst HPM, Lewis D, Mannelli M, Naruse M, Robledo M, Taïeb D, Taylor DR, Timmers HJLM, Treglia G, Tufton N, Young WF, Lenders JWM, Gimenez-Roqueplo AP, Lussey-Lepoutre C (2021). International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers. Nat. Rev. Endocrinol. 17, 435-444. Publicación CNIO.
Santos M, Lanillos J, Roldan-Romero JM, Caleiras E, Montero-Conde C, Cascón A, Climent MA, Anguera G, Hernando S, Laínez N, Robledo M, Robles L, de Velasco G, García-Donas J, Rodriguez-Antona C (2021). Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma. Genet Med 23, 698-704. Publicación CNIO.
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, Robledo M, Bayley JP, Burnichon N (2021). International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. J Med Genet (in press). Publicación CNIO.
Esteban E, Exposito F, Crespo G, Lambea J, Pinto A, Puente J, Arranz JA, Redrado M, Rodriguez-Antona C, de Andrea C, Lopez-Brea M, Redin E, Rodriguez A, Serrano D, Garcia J, Grande E, Castellano D, Calvo A (2021). Circulating levels of the interferon-?-regulated chemokines CXCL10/CXCL11, IL-6 and HGF predict outcome in metastatic renal cell carcinoma patients treated with antiangiogenic therapy. Cancers 13, 2849. Publicación CNIO.
Kinget L, Roussel E, Lambrechts D, Boeckx B, Vanginderhuysen L, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Verbiest A, Zucman-Rossi J, Couchy G, Caruso S, Laenen A, Baldewijns M, Beuselinck (2021). MicroRNAs possibly involved in the development of bone metastasis in clear-cell renal cell carcinoma.. Cancers 13, 1554. Publicación CNIO.
Kinget L, Roussel E, Verbiest A, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Zucman-Rossi J, Couchy G, Job S, de Reyniès A, Laenen A, Baldewijns M, Beuselinck B (2021). MicroRNAs targeting HIF-2?, VEGFR1 and/or VEGFR2 as potential predictive biomarkers for VEGFR tyrosine kinase and HIF-2? inhibitors in metastatic clear-cell renal cell carcinoma. Cancers 13, 3099. Publicación CNIO.
Monteagudo M, Martínez P, Leandro-García LJ, Martínez-Montes ÁM, Calsina B, Pulgarín-Alfaro M, Díaz-Talavera A, Mellid S, Letón R, Gil E, Pérez-Martínez M, Megías D, Torres-Ruiz R, Rodriguez-Perales S, González P, Caleiras E, Jiménez-Villa S, Roncador G, Álvarez-Escolá C, Regojo RM, Calatayud M, Guadalix S, Currás-Freixes M, Rapizzi E, Canu L, Nölting S, Remde H, Fassnacht M, Bechmann N, Eisenhofer G, Mannelli M, Beuschlein F, Quinkler M, Rodríguez-Antona C, Cascón A, Blasco MA, Montero-Conde C, Robledo M (2021). Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma. Cancers 13, 4758. Publicación CNIO.
Murakami M, Sun N, Greunke C, Feuchtinger A, Kircher S, Deutschbein T, Papathomas T, Bechmann N, Wallace PW, Peitzsch M, Korpershoek E, Friemel J, Gimenez Roqueplo AP, Robledo M, Timmers HJ, Canu L, Weber A, de Krijger RR, Fassnacht M, Knösel T, Kirchner T, Reincke M, Walch AK, Kroiss M, Beuschlein F (2021). Mass Spectrometry Imaging Identifies Metabolic Patterns Associated with Malignant Potential in Pheochromocytoma and Paraganglioma. Eur J Endocrinol 185, 179-191. Publicación CNIO.
Grande E, Rodriguez-Antona C, López C, Alonso-Gordoa T, Benavent M, Capdevila J, Teulé A, Custodio A, Sevilla I, Hernando J, Gajate P, Molina-Cerrillo J, Díez JJ, Santos M, Lanillos J, García-Carbonero R (2021). Sunitinib and Evofosfamide (TH-302) in systemic treatment-naïve patients with grade 1/2 metastatic pancreatic neuroendocrine tumors: the GETNE-1408 trial.. Oncologist 26, 941-949. Publicación CNIO.
März J, Kurlbaum M, Roche-Lancaster O, Deutschbein T, Peitzsch M, Prehn C, Weismann D, Robledo M, Adamski J, Fassnacht M, Kunz M, Kroiss M (2021). Plasma Metabolome Profiling for the Diagnosis of Catecholamine Producing Tumors. Front Endocrinol 12, 722656. Publicación CNIO.
Garcia-Carbonero R, Matute Teresa F, Mercader-Cidoncha E, Mitjavila-Casanovas M, Robledo M, Tena I, Alvarez-Escola C, Arístegui M, Bella-Cueto MR, Ferrer-Albiach C, Hanzu FA (2021). Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas. Clin Transl Oncol 23, 1995-2019. Publicación CNIO.
Villabona C, Oriola J, Serrano T, Guerrero-Pérez F, Valdés N, Chiara M, Robledo M. (2021). The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report. Am J Med Genet A 85, 3872-3876. Publicación CNIO.
Talhouk A et al. (incl. Benitez J) (2020). Development and validation of the gene expression predictor of high-grade serous ovarian carcinoma molecular subTYPE (PrOTYPE).. Clin Cancer Res 26, 5411-5423. Publicación CNIO.
Castro-Vega LJ*, Calsina B*, Burnichon N, Drossart T, Martínez-Montes ÁM, Verkarre V, Amar L, Bertherat J, Rodríguez-Antona C, Favier J, Robledo M, Gimenez-Roqueplo AP (2020). Overexpression of miR-483-5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma.. Clin Transl Med 10, e260. Publicación CNIO. Open Access
Rai SK, Bril F, Hatch HM, Xu Y, Shelton L, Kalavalapalli S, Click A, Lee D, Beecher C, Kirby A, Kong K, Trevino J, Jha A, Jatav S, Kriti K, Luthra S, Garrett TJ, Guingab-Cagmat J, Plant D, Bose P, Cusi K, Hromas RA, Tischler AS, Powers JF, Gupta P, Bibb J, Beuschlein F, Robledo M, Calsina B, Timmers H, Taieb D, Kroiss M, Richter S, Langton K, Eisenhofer G, Bergeron R Jr, Pacak K, Tevosianc SG, Ghayee HK. (2020). Targeting Pheochromocytoma/Paraganglioma with polyamine inhibitors.. Metabolism 110, 154297. Publicación CNIO.
Wallace PW, Conrad C, Brückmann S, Pang Y, Caleiras E, Murakami M, Korpershoek E, Zhuang Z, Rapizzi E, Kroiss M, Gudziol V, Timmers HJ, Mannelli M, Pietzsch J, Beuschlein F, Pacak K, Robledo M, Klink B, Peitzsch M, Gill AJ, Tischler AS, de Krijger RR, Papathomas T, Aust D, Eisenhofer G, Richter S (2020). Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas. J Pathol 251, 378-387. Publicación CNIO.
Martins FC, Couturier DL, Paterson A, Karnezis AN, Chow C, Nazeran TM, Odunsi A, Gentry-Maharaj A, Vrvilo A, Hein A, Talhouk A, Osorio A, Hartkopf AD, Brooks-Wilson A, DeFazio A, Fischer A, Hartmann A, Hernandez BY, McCauley BM, Karpinskyj C, de Sousa CB, Høgdall C, Tiezzi DG, Herpel E, Taran FA, Modugno F, Keeney G, Nelson G, Steed H, Song H, Luk H, Benitez J, Alsop J, Koziak JM, Lester J, Rothstein JH, de Andrade JM, Lundvall L, Paz-Ares L, Robles-Díaz L, Wilkens LR, Garcia MJ, Intermaggio MP, Alcaraz ML, Brett MA, Beckmann MW, Jimenez-Linan M, Anglesio M, Carney ME, Schneider M, Traficante N, Pejovic N, Singh N, Le N, Sinn P, Ghatage P, Erber R, Edwards R, Vierkant R, Ness RB, Leung S, Orsulic S, Brucker SY, Kaufmann SH, Fereday S, Gayther S, Winham SJ, Kommoss S, Pejovic T, Longacre TA, McGuire V, Rhenius V, Sieh W, Shvetsov YB, Whittemore AS, Staebler A, Karlan BY, Rodriguez-Antona C, Bowtell DD, Goode EL, Høgdall E, Candido Dos Reis FJ, Gronwald J, Chang-Claude J, Moysich KB, Kelemen LE, Cook LS, Goodman MT, Fasching PA, Crawford R, Deen S, Menon U, Huntsman DG, Köbel M, Ramus SJ, Pharoah PDP, Brenton JD (2020). Clinical and pathological associations of PTEN expression in ovarian cancer: a multicentre study from the Ovarian Tumour Tissue Analysis Consortium. Br J Cancer 123, 793-802. Publicación CNIO.
Roldan-Romero JM, Beuselinck B, Santos M, Rodriguez-Moreno JF, Lanillos J, Calsina B, Gutierrez A, Tang K, Lainez N, Puente J, Castellano D, Esteban E, Climent MA, Arranz JA, Albersen M, Oudard S, Couchy G, Caleiras E, Montero-Conde C, Cascón A, Robledo M, Rodríguez-Antona C, García-Donas J; Spanish Oncology Genitourinary Group (SOGUG). (2020). PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma.. Int J Cancer 146, 1435-1444. Publicación CNIO.
Roldan-Romero JM, Santos M, Lanillos J, Caleiras E, Anguera G, Maroto P, García-Donas J, de Velasco G, Martinez-Montes ÁM, Calsina B, Monteagudo M, Letón R, Leandro-García LJ, Montero-Conde C, Cascón A, Robledo M, Rodriguez-Antona C (2020). Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome. Mod Pathol 33, 2580-2590. Publicación CNIO.
20. Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP (2020). Germline mutations in the new E1′ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. J Med Genet 572, 752-759. Publicación CNIO.
Mellid S, Coloma J, Calsina B, Monteagudo M, Roldán-Romero JM, Santos M, Leandro-García LJ, Lanillos J, Martínez-Montes ÁM, Rodríguez-Antona C, Montero-Conde C, Martínez-López J, Ayala R, Matias-Guiu X, Robledo M, Cascón A (2020). Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma. Cancers 12, 3304. Publicación CNIO.
Stage TB, Mortensen C, Khalaf S, Steffensen V, Hammer HS, Xiong C, Nielsen F, Poetz O, Svenningsen ÅF, Rodriguez-Antona C, Kroetz D (2020). P-glycoprotein Inhibition Exacerbates Paclitaxel Neurotoxicity in Neurons and Cancer Patients.. Clin Pharmacol Ther 108, 671-680. Publicación CNIO.
Bechmann N, Moskopp ML, Ullrich M, Calsina B, Wallace PW, Richter S, Friedemann M, Langton K, Fliedner SMJ, Timmers HJLM, Nölting S, Beuschlein F, Fassnacht M, Prejbisz A, Pacak K, Ghayee HK, Bornstein SR, Dieterich P, Pietzsch J, Wielockx B, Robledo M, Qin N, Eisenhofer G (2020). HIF2a supports pro-metastatic behavior in pheochromocytomas/paragangliomas. Endocr-Relat Cancer 27, 625-640. Publicación CNIO.
Cordero-Barreal L, Caleiras E, López de Maturana E, Monteagudo M, Martínez-Montes ÁM, Letón R, Gil E, Álvarez-Escolá C, Regojo RM, Andía V, Marazuela M, Guadalix S, Calatayud M, Robles-Díaz L, Aguirre M, Cano JM, Díaz JÁ, Saavedra P, Lamas C, Azriel S, Sastre J, Aller J, Leandro-García LJ, Calsina B, Roldán-Romero JM, Santos M, Lanillos J, Cascón A, Rodríguez-Antona C, Robledo M, Montero-Conde C (2020). CD133 expression in medullary thyroid cancer cells identifies patients with poor prognosis. J Clin Endocrinol Metab 105, dgaa527. Publicación CNIO.
Dahia PLM, Clifton-Bligh R, Gimenez-Roqueplo AP, Robledo M, Jimenez C (2020). Hereditary endocrine tumours: current state-of-the art and research opportunities. Metastatic pheochromocytomas and paragangliomas: proceedings of the MEN2019 workshop.. Endocr-Relat Cancer 27, T41-T52. Publicación CNIO.
Jiang J, Zhang J, Pang Y, Bechmann N, Li M, Monteagudo M, Calsina B, Gimenez-Roqueplo AP, Nölting S, Beuschlein F, Fassnacht M, Deutschbein T, Timmers HJLM, Åkerström T, Crona J, Quinkler M, Fliedner SMJ, Liu Y, Guo J, Li X, Guo W, Hou Y, Wang C, Zhang L, Xiao Q, Liu L, Gao X, Burnichon N, Robledo M, Eisenhofer G (2020). Sino-European differences in the genetic landscape and clinical presentation of pheochromocytoma and paraganglioma.. J Clin Endocrinol Metab 105, dgaa502. Publicación CNIO.
Lenders JWM, Kerstens MN, Amar L, Prejbisz A, Robledo M, Taieb D, Pacak K, Crona J, Zelinka T, Mannelli M, Deutschbein T, Timmers HJLM, Castinetti F, Dralle H, Widimský J, Gimenez-Roqueplo AP, Eisenhofer G (2020). Genetics, Diagnosis, Management and Future Directions of Research of Phaeochromocytoma and Paraganglioma: A Position Statement and Consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension. J Hypertens 38, 1443-1456. Publicación CNIO.
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