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
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Arenillas C, Celada L, Ruiz-Cantador J, Calsina B, Datta D, García-Galea E, Fasani R, Moreno-Cárdenas AB, Alba-Linares JJ, Miranda-Barrio B, Martínez-Montes ÁM, Alvarez-Escola C, Lecumberri B, González García A, K Flores S, Esquivel E, Ding Y, Peitzsch M, Robles-Guirado JÁ, Regojo Zapata RM, Pozo-Kreilinger JJ, Iglesias C, Dwight T, Muir CA, Oleaga A, Garrido-Lestache Rodríguez-Monte ME, Del Cerro MJ, Martínez-Bendayán I, Álvarez-González E, Cubiella T, Lourenço DM Jr, A Pereira MA, Burnichon N, Buffet A, Broberg C, Dickson PV, Fraga MF, Llorente Pendás JL, Rueda Soriano J, Buendía Fuentes F, Toledo SPA, Clifton-Bligh R, Dienstmann R, Villanueva J, Capdevila J, Gimenez-Roqueplo AP, Favier J, Nuciforo P, Young WF Jr, Bechmann N, Opotowsky AR, Vaidya A, Bancos I, Weghorn D, Robledo M, Casteràs A, Dos-Subirà L, Adameyko I, Chiara MD, Dahia PLM, Toledo RA. (2025).Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes. Cancer Discovery 15, 1037-1062. Publicación CNIO.
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.
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.
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.
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
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.
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
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
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
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.
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
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.
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.
Open Access