Grupo de Cáncer Endocrino Hereditario

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

Investigadores Científicos

Alberto Cascón
Luis Javier Leandro

Becarios Post-doctorales

Cristina Montero

Becarios Pre-Doctorales

Javier de Nicolás
Carlos Valdivia

Técnicos de Laboratorio

Ester Arroba
Mariolga Berrizbeitia
Rocío Letón
Milton Eduardo Salazar

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

Taïeb D, Nölting S, Perrier ND, Fassnacht M, Carrasquillo JA, Grossman AB, Clifton-Bligh R, Wanna GB, Schwam ZG, Amar L, Bourdeau I, Casey RT, Crona J, Deal CL, Del Rivero J, Duh QY, Eisenhofer G, Fojo T, Ghayee HK, Gimenez-Roqueplo AP, Gill AJ, Hicks R, Imperiale A, Jha A, Kerstens MN, de Krijger RR, Lacroix A, Lazurova I, Lin FI, Lussey-Lepoutre C, Maher ER, Mete O, Naruse M, Nilubol N, Robledo M, Sebag F, Shah NS, Tanabe A, Thompson GB, Timmers HJLM, Widimsky J, Young WJ Jr, Meuter L, Lenders JWM, Pacak K (2024). Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.. Nat. Rev. Endocrinol. 20, 168-184. Publicación CNIO.
Casey RT, Hendriks E, Deal C, Waguespack SG, Wiegering V, Redlich A, Akker S, Prasad R, Fassnacht M, Clifton-Bligh R, Amar L, Bornstein S, Canu L, Charmandari E, Chrisoulidou A, Freixes MC, de Krijger R, de Sanctis L, Fojo A, Ghia AJ, Huebner A, Kosmoliaptsis V, Kuhlen M, Raffaelli M, Lussey-Lepoutre C, Marks SD, Nilubol N, Parasiliti-Caprino M, Timmers HHJLM, Zietlow AL, Robledo M, Gimenez-Roqueplo AP, Grossman AB, Taïeb D, Maher ER, Lenders JWM, Eisenhofer G, Jimenez C, Pacak K, Pamporaki C. (2024). International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents. Nat. Rev. Endocrinol. 20, 729-748. Publicación CNIO.
Uher O, Hadrava Vanova K, Taieb D, Calsina B, Robledo M, Clifton-Bligh R, Pacak K. (2024). The Immune Landscape of Pheochromocytoma and Paraganglioma: Current Advances and Perspectives. Endocr Rev 45, 521-552. Publicación CNIO.
Nelson BH, Hamilton PT, Phung MT, Milne K, Harris B, Thornton S, Stevens DL, Kalaria S, Singh K, Laumont CM, Moss E, Alimujiang A, Meagher NS, Bolithon A, Fereday S, Kennedy CJ, Hendley J, Ariyaratne D, Alsop K, Traficante N, Goode EL, Karnezis AN, Shen H, Richardson J, McKinnon Deurloo C, Chase A, Grout B, Doherty JA, Harris HR, Cushing-Haugen KL, Anglesio MS, Heinze K, Huntsman D, Talhouk A, Hanley GE, Alsop J, Jimenez-Linan M, Pharoah PD, Boros J, Brand AH, Harnett PR, Sharma R, Hecht JL, Sasamoto N, Terry KL, Karlan BY, Lester J, Carney ME, Goodman MT, Hernandez BY, Wilkens LR, Behrens S, Turzanski Fortner R, Fasching PA, Bisinotto C, Candido Dos Reis FJ, Ghatage P, Köbel M, Elishaev E, Modugno F, Cook LS, Le ND, Gentry-Maharaj A, Menon U, García MJ, Rodriguez-Antona C, Farrington KM, Kelemen LE, Kommoss S, Staebler A, Garsed DW, Brenton JD, Piskorz AM, Bowtell DD, DeFazio A, Ramus SJ, Pike MC, Pearce CL. (2024). Immunological and molecular features of the tumor microenvironment of long-term survivors of ovarian cancer. J Clin Invest (in press). Publicación CNIO.
Cascón A, Robledo M (2024). Clinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma. BBA-Rev Cancer 1879, 189141. Publicación CNIO.
Dareng EO, Coetzee SG, Tyrer JP, Peng PC, Rosenow W, Chen S, Davis BD, Dezem FS, Seo JH, Nameki R, Reyes AL, Aben KKH, Anton-Culver H, Antonenkova NN, Aravantinos G, Bandera EV, Beane Freeman LE, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bolton KL, Brenton JD, Budzilowska A, Butzow R, Cai H, Campbell I, Cannioto R, Chang-Claude J, Chanock SJ, Chen K, Chenevix-Trench G; AOCS Group; Chiew YE, Cook LS, DeFazio A, Dennis J, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles DM, Ene G, Fasching PA, Flanagan JM, Fortner RT, Fostira F, Gentry-Maharaj A, Giles GG, Goodman MT, Gronwald J, Haiman CA, Håkansson N, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Huang RY, Jensen A, Jones ME, Kang D, Karlan BY, Karnezis AN, Kelemen LE, Kennedy CJ, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Larson MC, Le ND, Lester J, Li L, Lubiński J, Lush M, Marks JR, Matsuo K, May T, McLaughlin JR, McNeish IA, Menon U, Missmer S, Modugno F, Moffitt M, Monteiro AN, Moysich KB, Narod SA, Nguyen-Dumont T, Odunsi K, Olsson H, Onland-Moret NC, Park SK, Pejovic T, Permuth JB, Piskorz A, Prokofyeva D, Riggan MJ, Risch HA, Rodríguez-Antona C, Rossing MA, Sandler DP, Setiawan VW, Shan K, Song H, Southey MC, Steed H, Sutphen R, Swerdlow AJ, Teo SH, Terry KL, Thompson PJ, Vestrheim Thomsen LC, Titus L, Trabert B, Travis R, Tworoger SS, Valen E, Van Nieuwenhuysen E, Edwards DV, Vierkant RA, Webb PM; OPAL Study Group; Weinberg CR, Weise RM, Wentzensen N, White E, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zeinomar N, Zheng W, Ziogas A, Berchuck A, Goode EL, Huntsman DG, Pearce CL, Ramus SJ, Sellers TA; Ovarian Cancer Association Consortium (OCAC); Freedman ML, Lawrenson K, Schildkraut JM, Hazelett D, Plummer JT, Kar S, Jones MR, Pharoah PDP, Gayther SA (2024). Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.. Am J Hum Genet 111, 1061-1083. Publicación CNIO.
Kang EY, Weir A, Meagher NS, Farrington K, Nelson GS, Ghatage P, Lee CH, Riggan MJ, Bolithon A, Popovic G, Leung B, Tang K, Lambie N, Millstein J, Alsop J, Anglesio MS, Ataseven B, Barlow E, Beckmann MW, Berger J, Bisinotto C, Bösmüller H, Boros J, Brand AH, Brooks-Wilson A, Brucker SY, Carney ME, Casablanca Y, Cazorla-Jiménez A, Cohen PA, Conrads TP, Cook LS, Coulson P, Courtney-Brooks M, Cramer DW, Crowe P, Cunningham JM, Cybulski C, Darcy KM, El-Bahrawy MA, Elishaev E, Erber R, Farrell R, Fereday S, Fischer A, García MJ, Gayther SA, Gentry-Maharaj A, Gilks CB; AOCS Group; Grube M, Harnett PR, Harrington SP, Harter P, Hartmann A, Hecht JL, Heikaus S, Hein A, Heitz F, Hendley J, Hernandez BY, Polo SH, Heublein S, Hirasawa A, Høgdall E, Høgdall CK, Horlings HM, Huntsman DG, Huzarski T, Jewell A, Jimenez-Linan M, Jones ME, Kaufmann SH, Kennedy CJ, Khabele D, Kommoss FKF, Kruitwagen RFPM, Lambrechts D, Le ND, Lener M, Lester J, Leung Y, Linder A, Loverix L, Lubiński J, Madan R, Maxwell GL, Modugno F, Neuhausen SL, Olawaiye A, Olbrecht S, Orsulic S, Palacios J, Pearce CL, Pike MC, Quinn CM, Mohan GR, Rodríguez-Antona C, Ruebner M, Ryan A, Salfinger SG, Sasamoto N, Schildkraut JM (2024). CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: an ovarian tumor tissue analysis consortium study.. Cancer 129, 697-713. Publicación CNIO.
Monteagudo M, Calsina B, Salazar-Hidalgo ME, Martínez-Montes ÁM, Piñeiro-Yáñez E, Caleiras E, Martín MC, Rodríguez-Perales S, Letón R, Gil E, Buffet A, Burnichon N, Fernández-Sanromán Á, Díaz-Talavera A, Mellid S, Arroba E, Reglero C, Martínez-Puente N, Roncador G, Del Olmo MI, Corrales PJP, Oliveira CL, Álvarez-Escolá C, Gutiérrez MC, López-Fernández A, García NP, Regojo RM, Díaz LR, Laorden NR, Guadarrama OS, Bechmann N, Beuschlein F, Canu L, Eisenhofer G, Fassnacht M, Nölting S, Quinkler M, Rapizzi E, Remde H, Timmers HJ, Favier J, Gimenez-Roqueplo AP, Rodriguez-Antona C, Currás-Freixes M, Al-Shahrour F, Cascón A, Leandro-García LJ, Montero-Conde C, Robledo M. (2024). MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma. Best Pract Res Cl En 38, 101931. Publicación CNIO. Open Access
Sampedro-Nuñez M, Herrera-Martínez AD, Ibáñez-Costa A, Rivero-Cortés E, Venegas E, Robledo M, Martínez-Hernández R, García-Martínez A, Gil J, Jordà M, López-Fernández J, Gavilán I, Maraver S, Marqués-Pamies M, Cámara R, Fajardo-Montañana C, Valassi E, Dios E, Aulinas A, Biagetti B, Álvarez Escola C, Araujo-Castro M, Blanco C, Paz M, Villar-Taibo R, Álvarez CV, Gaztambide S, Webb SM, Castaño L, Bernabéu I, Picó A, Gálvez MÁ, Soto-Moreno A, Puig-Domingo M, Castaño JP, Marazuela M, Luque RM; REMAH investigators. (2024). Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study. Eur J Endocrinol 109, 421-433. Publicación CNIO.
Ramachandran D, Tyrer JP, Kommoss S, DeFazio A, Riggan MJ; AOCS Group; Webb PM, Fasching PA, Lambrechts D, García MJ, Rodríguez-Antona C, Goodman MT, Modugno F, Moysich KB, Karlan BY, Lester J, Kjaer SK, Jensen A, Høgdall E, Goode EL, Cliby WA, Kumar A, Wang C, Cunningham JM, Winham SJ, Monteiro AN, Schildkraut JM, Cramer DW, Terry KL, Titus L, Bjorge L, Thomsen LCV; OPAL Study Group; Pejovic T, Høgdall CK, McNeish IA, May T, Huntsman DG, Pfisterer J, Canzler U, Park-Simon TW, Schröder W, Belau A, Hanker L, Harter P, Sehouli J, Kimmig R, de Gregorio N, Schmalfeldt B, Baumann K, Hilpert F, Burges A, Winterhoff B, Schürmann P, Speith LM, Hillemanns P, Berchuck A, Johnatty SE, Ramus SJ, Chenevix-Trench G, Pharoah PDP, Dörk T, Heitz F. (2024). Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease. NPJ GENOM MED 5, 19. Publicación CNIO.
Richter S, Pacak K, Kunst H, Januszewicz A, Nölting S, Remde H, Robledo M, Eisenhofer G, Timmers HJ, Pamporaki C. (2024). Management and follow-up strategies for patients with head and neck paraganglioma. Eur J Endocrinol 191, 389-398. Publicación CNIO.
Wang K, Schober L, Fischer A, Bechmann N, Maurer J, Peischer L, Reul A, Hantel C, Reincke M, Beuschlein F, Robledo M, Mohr H, Pellegata NS, Schilbach K, Knösel T, Ilmer M, Angele M, Kroiss M, Maccio U, Broglie-Däppen M, Vetter D, Lehmann K, Pacak K, Grossman AB, Auernhammer CJ, Zitzmann K, Nölting S. (2024). Opposing effects of cannabidiol in patient-derived neuroendocrine tumor, pheochromocytoma/paraganglioma primary cultures. J Clin Endocrinol Metab 12, dgae241. Publicación CNIO.
Jiang J, Pang Y, Luo R, Wei Y, Zhang J, Li M, Xu Y, Teng X, Wu H, Guan H, Wu X, Yan C, Zhong D, Deng W, Xu N, Wen Y, Feng Y, Yan B, Wang L, Jiang Y, Ning J, Xu X, Soria MJ, Robledo M, Pacak K, Liu Y, Liu L. (2024). Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort. J Endocrinol Invest (in press). Publicación CNIO.
Moreno-Cabrera JM, Feliubadaló L, Pineda M, Prada-Dacasa P, Ramos-Muntada M, Del Valle J, Brunet J, Gel B, Currás-Freixes M, Calsina B, Salazar-Hidalgo ME, Rodríguez-Balada M, Roig B, Fernández-Castillejo S, Durán Domínguez M, Arranz Ledo M, Infante Sanz M, Castillejo A, Dámaso E, Soto JL, de Miguel M, Hidalgo Calero B, Sánchez-Zapardiel JM, Ramon Y Cajal T, Lasa A, Gisbert-Beamud A, López-Novo A, Ruiz-Ponte C, Potrony M, Álvarez-Mora MI, Osorio A, Lorda-Sánchez I, Robledo M, Cascón A, Ruiz A, Spataro N, Hernan I, Borràs E, Moles-Fernández A, Earl J, Cadiñanos J, Sánchez-Heras AB, Bigas A, Capellá G, Lázaro C. (2024). SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population. DATABASE : THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION , baae055. Publicación CNIO.
Pang Y, Zhang J, Jiang J, Pamporaki C, Li M, Bechmann N, Meuter L, Wei Y, Huang H, Huang S, Yu X, Robledo M, Soria MJ, Zhong D, Xu S, Timmers HJLM, Langenhuijsen JF, Chen X, Deng W, Deutschbein T, Remde H, Wang L, Yao H, Yan B, Berends AMA, Kerstens MN, Jiang Y, Crona J, Xu N, Cai H, Wen Y, Wang A, Wu J, Zhang Z, Ning J, Cheng F, Chen X, Wang J, Xie B, Chen D, Liu Y, Liu L, Pacak K, Eisenhofer G, Lenders JWM (2024). Diagnosis and management of urinary bladder paragangliomas: A Sino-American-European retrospective observational study. Clin Endocrinol 101, 234-242. Publicación CNIO.
Sánchez-Heras AB, Dámaso E, Castillejo A, Robledo M, Teulé A, Lázaro C, Sánchez-Martínez R, Zúñiga Á, López-Fernández A, Balmaña J, Robles L, Ramon Y Cajal T, Castillejo MI, Ibañez RP, Sevila CM, Sánchez-Mira A, Escandell I, Gómez L, Berbel P, Soto JL. (2024). Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome. Orphanet J Rare Dis 19, 26. Publicación CNIO.
Gebhardt M, Kunath C, Fröbel D, Funk AM, Peitzsch M, Nölting S, Deutschbein T, Januszewicz A, Timmers HJLM, Robledo M, Jahn A, Constantinescu G, Eisenhofer G, Pamporaki C, Richter S. (2024). Identification of Succinate Dehydrogenase Gene Variant Carriers by Blood Biomarkers. J. Endocr. Soc. 8, bvae142. Publicación CNIO.
Mahmood M, Liu EM, Shergold AL, Tolla E, Tait-Mulder J, Huerta-Uribe A, Shokry E, Young AL, Lilla S, Kim M, Park T, Boscenco S, Manchon JL, Rodríguez-Antona C, Walters RC, Springett RJ, Blaza JN, Mitchell L, Blyth K, Zanivan S, Sumpton D, Roberts EW, Reznik E, Gammage PA. (2024). Mitochondrial DNA mutations drive aerobic glycolysis to enhance checkpoint blockade response in melanoma. Nat Cancer 5, 659-672. Publicación CNIO.
Pamporaki C, Berends AMA, Filippatos A, Prodanov T, Meuter L, Prejbisz A, Beuschlein F, Fassnacht M, Timmers HJLM, Nölting S, Abhyankar K, Constantinescu G, Kunath C, de Haas RJ, Wang K, Remde H, Bornstein SR, Januszewicz A, Robledo M, Lenders JWM, Kerstens MN, Pacak K, Eisenhofer G. (2024). Prediction of metastatic pheochromocytoma and paraganglioma: a machine learning modelling study using data from a cross-sectional cohort. Lancet Digit Health (in press). Publicación CNIO.
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. Open Access
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 153, 1300-1312. 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 189, 546-565. Publicación CNIO.
Fischer A, Maccio U, Wang K, Friemel J, Broglie Daeppen MA, Vetter D, Lehmann K, Reul A, Robledo M, Hantel C, Bechmann N, Pacak K, Zitzmann K, Auernhammer CJ, Grossman AB, Beuschlein F, Nölting S. (2023). PD-L1 and HIF-2α upregulation in head and neck paragangliomas after embolization.. Cancers 15, 5199. Publicación CNIO. Open Access
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.
Li M, Prodanov T, Meuter L, Kerstens MN, Bechmann N, Prejbisz A, Remde H, Timmers HJLM, Nölting S, Talvacchio S, Berends AMA, Fliedner S, Robledo M, Lenders JWM, Pacak K, Eisenhofer G, Pamporaki C. (2023). Recurrent disease in patients with sporadic pheochromocytoma and paraganglioma.. J Clin Endocrinol Metab 108, 397-404. Publicación CNIO.
Li M, Richter S, Mohr H, Drukewitz S, Poser I, Stanke D, Calsina B, Martinez-Montes AM, Quinkler M, Timmers HJLM, Nölting S, Beuschlein F, Remde H, Opocher G, Rapizzi E, Pacak K, Pamporaki C, Robledo M, Liu L, Jiang J, Bornstein SR, Eisenhofer G, Fliedner SMJ, Bechmann N. (2023). Regulation of epinephrine biosynthesis in HRAS-mutant paragangliomas.. Endocr-Relat Cancer 30, e230230. 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, 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. Open Access
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. Open Access
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. Open Access
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.
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. Open Access
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. Open Access
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. Open Access
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. Open Access
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. Open Access
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. Open Access
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.
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. Open Access
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.
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. Publicación CNIO.
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. Publicación CNIO.
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. Publicación CNIO. Open Access
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. Publicación CNIO.
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. Publicación CNIO. Open Access
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. Publicación CNIO. 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. Publicación CNIO. Open Access
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). Publicación CNIO.