Hereditary Endocrine Cancer Group

Mercedes Robledo Group Leader
T +34 917328000 (Ext 3320)
mrobledo@cnio.es

Staff Scientists

Alberto Cascón
Cristina Rodríguez

Post-Doctoral Fellows

Luis Javier Leandro
Ángel Mario Martínez
Cristina Montero

Graduate Students

Javier Lanillos
Sara Mellid
María Monteagudo
María Santos

Technicians

Bruna Calsina
Eduardo Gil
Rocío Letón

Visiting Scientist

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.

Publications

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. CNIO Publication.
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. CNIO Publication.
Lanillos J, Santos M, Carcajona M, Roldan-Romero JM, Martinez AM, Calsina B, Monteagudo M, Leandro-García LJ, Montero-Conde C, Cascón A, Maietta P, Alvarez S, Robledo M, Rodriguez-Antona C (2020). A Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 Through Next-Generation Sequencing Off-Target Data. J Clin Med 9, E2082. CNIO Publication. 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. CNIO Publication.
Larsen LV, Mirebeau-Prunier D, Imai T, Alvarez-Escola C, Hasse-Lazar K, Censi S, Castroneves LA, Sakurai A, Kihara M, Horiuchi K, Barbu VD, Borson-Chazot F, Gimenez-Roqueplo AP, Pigny P, Pinson S, Wohllk N, Eng C, Aydogan BI, Saranath D, Dvorakova S, Castinetti F, Patocs A, Bergant D, Links TP, Peczkowska M, Hoff AO, Mian C, Dwight T, Jarzab B, Neumann HPH, Robledo M, Uchino S, Barlier A, Godballe C, Mathiesen JS (2020). Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.. ENDOCR CONNECT 9, 489-497. CNIO Publication. Open Access
Saiz-Rodríguez M, Almenara S, Navares-Gómez M, Ochoa D, Román M, Zubiaur P, Koller D, Santos M, Mejía G, Borobia AM, Rodríguez-Antona C, Abad-Santos F (2020). Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates.. Biomedicines 8, E94. CNIO Publication. Open Access
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. CNIO Publication.
Svedberg A, Björn N, Sigurgeirsson B, Pradhananga S, Brandén E, Koyi H, Lewensohn R, De Petris L, Apellániz-Ruiz M, Rodríguez-Antona C, Lundeberg J, Gréen H (2020). Genetic association of gemcitabine/carboplatin-induced leukopenia and neutropenia in non-small cell lung cancer patients using whole-exome sequencing.. Pharmacogenomics J 147, 106-114. CNIO Publication.
Garrigós C, Molina-Pinelo S, Meléndez R, Espinosa M, Lerma A, Taron M, García-Donas J, Rodriguez-Antona C, Duran I (2020). MicroRNAs as potential predictors of extreme response to tyrosine kinase inhibitors in renal cell cancer.. Urol Oncol-Semin Ori 38, 640.e23-640.e29. CNIO Publication.
Verbiest A, Van Hoef V, Rodriguez-Antona C, García-Donas J, Graña-Castro O, Albersen M, Baldewijns M, Laenen A, Roussel E, Schöffski P, Wozniak A, Caruso S, Couchy G, Zucman-Rossi J, Beuselinck B (2020). MicroRNA expression profiles in molecular subtypes of clear-cell renal cell carcinoma are associated with clinical outcome and repression of specific mRNA targets. PLoS One 15, e0238809. CNIO Publication.
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. CNIO Publication.
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. CNIO Publication.
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. CNIO Publication.
Eisenhofer G, Deutschbein T, Constantinescu G, Langton K, Pamporaki C, Calsina B, Monteagudo M, Peitzsch M, Fliedner S, Timmers HJLM, Bechmann N, Fankhauser M, Nölting S, Beuschlein F, Stell A, Fassnacht M, Prejbisz A, Lenders JWM, Robledo M (2020). Plasma metanephrines and prospective prediction of tumor location, size and mutation type in patients with pheochromocytoma and paraganglioma.. Clin Chem Lab Med 59, 353-363. CNIO Publication.
Taron M, Llerena A, Manolopoulos VG, Rodriguez-Antona C, Stankovic S, van Schaik RHN. (2020). The need of the clinical implementation of pharmacogenetics in European health services for routine drug prescription. What’s next? An urgent clinical unmet need for patients. Drug Metabolism and Personalized Therapy (in press). CNIO Publication.
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. CNIO Publication.
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. CNIO Publication.
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. CNIO Publication. Open Access
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. CNIO Publication.
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. CNIO Publication.
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. CNIO Publication.
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. CNIO Publication.
Sánchez-Barroso L, Apellaniz-Ruiz M, Gutiérrez-Gutiérrez G, Santos M, Roldán-Romero JM, Curras M, Remacha L, Calsina B, Calvo I, Sereno M, Merino M, García-Donas J, Castelo B, Guerra E, Letón R, Montero-Conde C, Cascón A, Inglada-Pérez L, Robledo M, Rodríguez-Antona C (2019). Concomitant medications and risk of chemotherapy-induced peripheral neuropathy. Oncologist 24, e784-e792. CNIO Publication.
Erlic Z, Kurlbaum M, Deutschbein T, Nölting S, Prejbisz A, Timmers HJ, Richter S, Prehn C, Weismann D, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Robledo M, Eisenhofer G, Beuschlein F, Kroiss M (2019). Metabolic impact of pheochromocytoma/paraganglioma: Targeted metabolomics in patients before and after tumor removal. Eur J Endocrinol 181, 647-657. CNIO Publication.
Björn N, Sigurgeirsson B, Svedberg A, Pradhananga S, Brandén E, Koyi H, Lewensohn R, de Petris L, Apellániz-Ruiz M, Rodríguez-Antona C, Lundeberg J, Gréen H (2019). Genes and variants in hematopoiesis-related pathways are associated with gemcitabine/carboplatin-induced thrombocytopenia. Pharmacogenomics J (in press). CNIO Publication.
Duran Alvarez MA, Tavarez Rodriguez JJ, Robledo M (2019). Paraganglioma of the tongue with SDHB gene mutation in a patient with Graves’ disease. Clin Case Rep 7, 726-730. CNIO Publication. Open Access
García-Silva S, Benito-Martín A, Sánchez-Redondo S, Hernández-Barranco A, Ximénez-Embún P, Nogués L, Mazariegos MS, Brinkmann K, Amor López A, Meyer L, Rodríguez C, García-Martín C, Boskovic J, Letón R, Montero C, Robledo M, Santambrogio L, Sue Brady M, Szumera-Cieckiewicz A, Kalinowska I, Skog J, Noerholm M, Muñoz J, Ortiz-Romero PL, Ruano Y, Rodríguez-Peralto JL, Rutkowski P, Peinado H (2019). Use of extracellular vesicles from lymphatic drainage as surrogate markers of melanoma progression and BRAF V600E mutation. J Exp Med 216, 1061-1070. CNIO Publication.
Ciruelos E, Apellániz-Ruiz M, Cantos B, Martinez-Jáñez N, Bueno-Muiño C, Echarri MJ, Enrech S, Guerra JA, Manso L, Pascual T, Dominguez C, Gonzalo JF, Sanz JL, Rodriguez-Antona C, Sepúlveda JM (2019). A Pilot, Phase II, Randomized, Open-Label Clinical Trial Comparing the Neurotoxicity of Three Dose Regimens of Nab-Paclitaxel to That of Solvent-Based Paclitaxel as the First-Line Treatment for Patients with Human Epidermal Growth Factor Receptor Type 2-Negative Metastatic Breast Cancer. Oncologist 24, e1024-e1033. CNIO Publication.
Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Currás-Freixes M, Letón R, Torres-Pérez R, Richter S, Pita G, Herráez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, García-Uriarte Ó, Gálvez MÁ, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodríguez-Antona C, Llorca Ó, Smolen GA, Robledo M, Cascón A (2019). Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas. Am J Hum Genet 104, 651-664. CNIO Publication.
Carril-Ajuria L, Santos M, Roldán-Romero JM, Rodriguez-Antona C, de Velasco G (2019). Prognostic and Predictive Value of PBRM1 in Clear Cell Renal Cell Carcinoma.. Cancers 12, E16. CNIO Publication. Open Access
Gieldon L, William D, Hackmann K, Jahn W, Jahn A, Wagner J, Rump A, Bechmann N, Nölting S, Knösel T, Gudziol V, Constantinescu G, Masjkur J, Beuschlein F, Timmers HJ, Canu L, Pacak K, Robledo M, Aust D, Schröck E, Eisenhofer G, Richter S, Klink B (2019). Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.. Cancers 11, E809. CNIO Publication. Open Access
Garcia-Carpizo V, Ruiz-Llorente S, Sarmentero J, González-Corpas A, Barrero MJ (2019). CREBBP/EP300 Bromodomain Inhibition Affects the Proliferation of AR-Positive Breast Cancer Cell Lines. Mol Cancer Res 13, 720-730. CNIO Publication.
Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, Klink B (2019). Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Genet Med 21, 705-717. CNIO Publication.
Rubio C, Martínez-Fernández M, Segovia C, Lodewijk I, Suarez-Cabrera C, Segrelles C, López-Calderón F, Munera-Maravilla E, Santos M, Bernardini A, García-Escudero R, Lorz C, Gómez-Rodriguez MJ, de Velasco G, Otero I, Villacampa F, Guerrero-Ramos F, Ruiz S, de la Rosa F, Domínguez-Rodríguez S, Real FX, Malats N, Castellano D, Dueñas M, Paramio JM (2019). CDK4/6 Inhibitor as a Novel Therapeutic Approach for Advanced Bladder Cancer Independently of RB1 Status. Clin Cancer Res 25, 390-402. CNIO Publication.
Hescot S, Curras-Freixes M, Deutschbein T, van Berkel A, Vezzosi D, Amar L, de la Fouchardière C, Valdes N, Riccardi N, Do Cao C, Bertherat J, Goichot B, Beuschlein F, Drui D, Canu L, Niccoli P, Laboureau S, Tabarin A, Leboulleux S, Calsina B, Libé R, Faggiano A, Schlumberger M, Borson-Chazot F, Mannelli M, Gimenez-Roqueplo AP, Caron P, Timmers HJLM, Fassnacht M, Robledo M, Borget I, Baudin E; European Network for the Study of Adrenal Tumors (ENS@T) (2019). Prognosis of malignant pheochromocytoma and paraganglioma (MAPP-Prono study): an ENS@T retrospective study. J Clin Endocrinol Metab 104, 2367-2374. CNIO Publication.
Cascón A, Remacha L, Calsina B, Robledo M (2019). Pheochromocytomas and Paragangliomas: Bypassing Cellular Respiration. Cancers 11, 683. CNIO Publication. Open Access
Guerrero-Pérez F, Fajardo C, Torres Vela E, Giménez-Palop O, Lisbona Gil A, Martín T, González N, Díez JJ, Iglesias P, Robledo M, Villabona C (2019). 3P association (3PAs): Pituitary adenoma and pheochromocytoma/paraganglioma. A heterogeneous clinical syndrome associated with different gene mutations.. Eur J Intern Med 69, 14-19. CNIO Publication.
Bechmann N, Poser I, Seifert V, Greunke C, Ullrich M, Qin N, Walch A, Peitzsch M, Robledo M, Pacak K, Pietzsch J, Richter S, Eisenhofer G (2019). Impact of Extrinsic and Intrinsic Hypoxia on Catecholamine Biosynthesis in Absence or Presence of Hif2a in Pheochromocytoma Cells. Cancers 11, 594. CNIO Publication. Open Access
Ullrich M, Richter S, Seifert V, Hauser S, Calsina B, Martínez-Montes ÁM, Ter Laak M, Ziegler CG, Timmers H, Eisenhofer G, Robledo M, Pietzsch (2019). Targeting Cyclooxygenase-2 in Pheochromocytoma and Paraganglioma: Focus on Genetic Background. Cancers 11, 743. CNIO Publication. Open Access
Calsina B, Castro-Vega LJ, Torres-Pérez R, Inglada-Pérez L, Currás-Freixes M, Roldán-Romero JM, Mancikova V, Letón R, Remacha L, Santos M, Burnichon N, Lussey-Lepoutre C, Rapizzi E, Graña O, Álvarez-Escolá C, de Cubas AA, Lanillos J, Cordero-Barreal A, Martínez-Montes ÁM, Bellucci A, Amar L, Fernandes-Rosa FL, Calatayud M, Aller J, Lamas C, Sastre-Marcos J, Canu L, Korpershoek E, Timmers HJ, Lenders JW, Beuschlein F, Fassnacht-Capeller M, Eisenhofer G, Mannelli M, Al-Shahrour F, Favier J, Rodríguez-Antona C, Cascón A, Montero-Conde C, Gimenez-Roqueplo AP, Robledo M (2019). Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma.. Theranostics 9, 4946-4958. CNIO Publication. Open Access
Montero-Conde C, Graña-Castro O, Martín-Serrano G, Martínez-Montes ÁM, Zarzuela E, Muñoz J, Torres-Perez R, Pita G, Cordero-Barreal A, Leandro-García LJ, Letón R, de Silanes IL, Guadalix S, Pérez-Barrios A, Hawkins F, Guerrero-Álvarez A, Álvarez-Escolá C, Regojo-Zapata R, Calsina B, Remacha L, Roldán-Romero JM, Santos M, Lanillos J, Jordá M, Riesco-Eizaguirre G, Zafon C, González-Neira A, Blasco MA, Al-Shahrour F, Rodríguez-Antona C, Cascón A, Robledo M. (2019). Hsa-miR-139-5p is a prognostic thyroid cancer marker involved in HNRNPF-mediated alternative splicing.. Int J Cancer 146, 521-530. CNIO Publication.
Santos M, Niemi M, Hiratsuka M, Kumondai M, Ingelman-Sundberg M, Lauschke VM, Rodríguez-Antona C (2018). Novel copy-number variations in pharmacogenes contribute to interindividual differences in drug pharmacokinetics. Genet Med 20, 622-629. CNIO Publication.
Evenepoel L et al. (incl. Robledo M) (2018). Expression of contactin 4 is associated with malignant behavior in pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 103, 46-55. CNIO Publication.
Klein Hesselink EN, Zafon C, Villalmanzo N, Iglesias C, van Hemel BM, Klein Hesselink MS, Montero-Conde C, Buj R, Mauricio D, Peinado MA, Puig-Domingo M, Riesco-Eizaguirre G, Reverter JL, Robledo M, Links TP, Jordà M (2018). Increased global DNA hypomethylation in distant metastatic and dedifferentiated thyroid cancer. J Clin Endocrinol Metab 103, 397-406. CNIO Publication.
Maroto P, Anguera G, Roldan-Romero JM, Apellániz-Ruiz M, Algaba F, Boonman J, Nellist M, Montero-Conde C, Cascón A, Robledo M, Rodríguez-Antona C (2018). Biallelic TSC2 mutations in a patient with chromophobe renal cell carcinoma showing extraordinary response to temsirolimus. J Natl Compr Canc Netw 16, 352-358. CNIO Publication.
Gieldon L, Masjkur JR, Richter S, Därr R, Lahera M, Aust D, Zeugner S, Rump A, Hackmann K, Tzschach A, Januszewicz A, Prejbisz A, Eisenhofer G, Schrock E, Robledo M, Klink B (2018). Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1. Eur J Endocrinol 178, K1-K9. CNIO Publication.
Eijkelenkamp K, Olderode-Berends MJW, van der Luijt RB, Robledo M, van Dooren M, Feelders RA, de Vries J, Kerstens MN, Links TP, van der Horst-Schrivers ANA (2018). Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas. Clin Genet 93, 1049-1056. CNIO Publication.
Soto JL, Blanco I, Díez O, García Planells J, Lorda I, Matthijs G, Robledo M, Souche E, Lázaro C (2018). Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer. Med Clin-Barcelona 151, 80. CNIO Publication.
Rogowski-Lehmann N, Geroula A, Prejbisz A, Timmers HJLM, Megerle F, Robledo M, Fassnacht M, Fliedner S, Reincke M, Stell A, Januszewicz A, Lenders J, Eisenhofer G, Beuschlein F (2018). Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging. ENDOCR CONNECT (in press). CNIO Publication. Open Access
Liu X, Swen JJ, Diekstra MHM, Boven E, Castellano D, Gelderblom H, Mathijssen RHJ, Vermeulen SH, Oosterwijk E, Junker K, Roessler M, Alexiusdottir K, Sverrisdottir A, Radu MT, Ambert V, Eisen T, Warren A, Rodríguez-Antona C, García-Donas J, Böhringer S, Koudijs KKM, Kiemeney LALM, Rini BI, Guchelaar HJ (2018). A Genetic Polymorphism in CTLA-4 Is Associated with Overall Survival in Sunitinib-Treated Patients with Clear Cell Metastatic Renal Cell Carcinoma. Clin Cancer Res 24, 2350-2356. CNIO Publication.
Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud M, Obispo B, Martin A, Cohen R, Richter S, Balmaña J, Korpershoek E, Rapizzi E, Deutschbein T, Vroonen L, Favier J, de Krijger RR, Fassnacht M, Beuschlein F, Timmers HJ, Eisenhofer G, Mannelli M, Pacak K, Satrústegui J, Rodríguez-Antona C, Amar L, Cascón A, Dölker N, Gimenez-Roqueplo AP, Robledo M (2018). Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Genet Med 20, 1652-1662. CNIO Publication.
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Barriuso J, Custodio A, Afonso R, Alonso V, Astudillo A, Capdevila J, García-Carbonero R, Grande E, Jimenez-Fonseca P, Marazuela M, Rodríguez-Antona C, Aller J (2018). Prognostic and predictive biomarkers for somatostatin analogs, peptide receptor radionuclide therapy and serotonin pathway targets in neuroendocrine tumours. Cancer Treat Rev 70, 209-222. CNIO Publication.
Molatore S, Kügler A, Irmler M, Wiedemann T, Neff F, Feuchtinger A, Beckers J, Robledo M, Roncaroli F, Pellegata NS (2018). Characterization of neuroendocrine tumors in heterozygous mutant MENX rats: a novel model of invasive medullary thyroid carcinoma. Endocr-Relat Cancer 25, 145-162. CNIO Publication.
Espinosa M, Roldán-Romero JM, Duran I, de Álava E, Apellaniz-Ruiz M, Cascón A, Garrigos C, Robledo M, Rodriguez-Antona C (2018). Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation. Bmc Cancer 18, 561. CNIO Publication. Open Access
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Paumard-Hernández B, Calvete O, Inglada Pérez L, Tejero H, Al-Shahrour F, Pita G, Barroso A, Triviño JC, Urioste M, Valverde C, González Billalabeitia E, Quiroga V, Rodríguez Moreno JF, Fernández Aramburo A, López C, Maroto P, Sastre J, Juan Fita MJ, Duran I, Lorenzo-Lorenzo I, Iranzo P, García Del Muro X, Ros S, Zambrana F, Autran AM, Benítez J (2018). Whole Exome Sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. Int J Cancer 143, 1954-1962. CNIO Publication.
NGS in PPGL (NGSnPPGL) Study Group., Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, Tops CM, Firth H, Dwight T, Ercolino T, Mannelli M, Opocher G, Clifton-Bligh R, Gimm O, Maher ER, Robledo M, Gimenez-Roqueplo AP, Dahia PL. (2017). Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.. Nat. Rev. Endocrinol. 13, 233-247. CNIO Publication.
Apellániz-Ruiz M, Tejero H, Inglada-Pérez L, Sánchez-Barroso L, Gutiérrez-Gutiérrez G, Calvo I, Castelo B, Redondo A, García-Donás J, Romero-Laorden N, Sereno M, Merino M, Currás-Freixes M, Montero-Conde C, Mancikova V, Åvall-Lundqvist E, Green H, Al-Shahrour F, Cascon A, Robledo M, Rodriguez-Antona C (2017). Targeted sequencing reveals low-frequency variants in EPHA genes as markers of paclitaxel-induced peripheral neuropathy.. Clin Cancer Res 23, 1227-1235. CNIO Publication.
Mancikova V, Montero-Conde C, Perales-Paton J, Fernandez AF, Santacana M, Jodkowska K, Inglada-Pérez L, Castelblanco E, Borrego S, Encinas M, Matias-Guiu X, Fraga MF, Robledo M (2017). Multilayer OMIC data in medullary thyroid carcinoma identifies the STAT3 pathway as a potential therapeutic target in RETM918T tumors.. Clin Cancer Res 23, 1334-1345. CNIO Publication.
Remacha L, Comino-Méndez I, Richter S, Contreras L, Currás-Freixes M, Pita G, Letón R, Galarreta A, Torres-Pérez R, Honrado E, Jiménez S, Maestre L, Moran S, Esteller M, Satrústegui J, Eisenhofer G, Robledo M, Cascón A (2017). Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.. Clin Cancer Res 23, 6315-6324. CNIO Publication.
Roldan-Romero JM, Rodríguez-Moreno JF, García-Donás J, Rodríguez-Antona C. (2017). mTOR Pathway Mutations and Response to Rapalogs in RCC-Letter.. Clin Cancer Res 23, 5320. CNIO Publication.
Pamporaki C, Hamplova B, Peitzsch M, Prejbisz A, Beuschlein F, Timmers HJLM, Fassnacht M, Klink B, Lodish M, Stratakis CA, Huebner A, Fliedner S, Robledo M, Sinnott RO, Januszewicz A, Pacak K, Eisenhofer G (2017). Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas.. J Clin Endocrinol Metab 102, 1122-1132. CNIO Publication.
Liu X, Swen JJ, Boven E, Castellano D, Gelderblom H, Mathijssen RH, Rodríguez-Antona C, García-Donas J, Rini BI, Guchelaar HJ (2017). Meta-analysis on the association of VEGFR1 genetic variants with sunitinib outcome in metastatic renal cell carcinoma patients. Oncotarget 8, 1204-1212. CNIO Publication.
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Alegría-Landa V, Jo-Velasco M, Robledo M, Requena L. (2017). Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.. JAMA Dermatol 15, 1298-1301. CNIO Publication.
Oudijk L1, Papathomas T, de Krijger R, Korpershoek E, Gimenez-Roqueplo AP, Favier J, Canu L, Mannelli M, Rapa I, Currás-Freixes M, Robledo M, Smid M, Papotti M, Volante M. (2017). The mTORC1 Complex Is Significantly Overactivated in SDHX-Mutated Paragangliomas.. Neuroendocrinology 105, 384-393. CNIO Publication.
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Diekstra MH, Belaustegui A, Swen JJ, Boven E, Castellano D, Gelderblom H, Mathijssen RH, García-Donas J, Rodríguez-Antona C, Rini BI, Guchelaar HJ (2017). Sunitinib induced hypertension in CYP3A4 rs4646437 A-allele carriers with metastatic renal cell carcinoma. Pharmacogenomics J 17, 42-46. CNIO Publication.
Pascual T, Apellániz-Ruiz M, Pernaut C, Cueto-Felgueroso C, Villalba P, Álvarez C, Manso L, Inglada-Pérez L, Robledo M, Rodríguez-Antona C, Ciruelos E (2017). Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer. PLoS One 12, e0180192. CNIO Publication. Open Access
Sereno M, Gutiérrez-Gutiérrez G, Rubio JM, Apellániz-Ruiz M, Sánchez-Barroso L, Casado E, Falagan S, López-Gómez M, Merino M, Gómez-Raposo C, Rodriguez-Salas N, Tébar FZ, Rodríguez-Antona C (2017). Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy. Bmc Cancer 17, 63. CNIO Publication.
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Eisenhofer G, Klink B, Richter S, Lenders JW, Robledo M (2017). Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.. Clin Biochem Rev 8, 69-100. CNIO Publication.
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Benitez-Buelga C, Vaclová T, Ferreira S, Urioste M, Inglada-Perez L, Soberón N, Blasco MA, Osorio A, Benitez J (2016). Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers. Oncotarget 7, 25815-25825. CNIO Publication. Open Access
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