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Items: 1 to 50 of 86

1.

Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma.

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.

Theranostics. 2019 Jul 9;9(17):4946-4958. doi: 10.7150/thno.35458. eCollection 2019.

2.

Hsa-miR-139-5p is a prognostic thyroid cancer marker involved in HNRNPF-mediated alternative splicing.

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, López de Silanes I, Guadalix S, Pérez-Barrios A, Hawkins F, Guerrero-Álvarez A, Álvarez-Escolá C, Regojo-Zapata RM, 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.

Int J Cancer. 2020 Jan 15;146(2):521-530. doi: 10.1002/ijc.32622. Epub 2019 Aug 28.

PMID:
31403184
3.

PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma.

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).

Int J Cancer. 2020 Mar 1;146(5):1435-1444. doi: 10.1002/ijc.32579. Epub 2019 Aug 9.

PMID:
31335987
4.

Pheochromocytomas and Paragangliomas: Bypassing Cellular Respiration.

Cascón A, Remacha L, Calsina B, Robledo M.

Cancers (Basel). 2019 May 16;11(5). pii: E683. doi: 10.3390/cancers11050683. Review.

5.

Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.

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.

Am J Hum Genet. 2019 May 2;104(5):1008-1010. doi: 10.1016/j.ajhg.2019.04.010. No abstract available.

6.

Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.

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.

Am J Hum Genet. 2019 Apr 4;104(4):651-664. doi: 10.1016/j.ajhg.2019.02.017. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 May 2;104(5):1008-1010.

7.

Concomitant Medications and Risk of Chemotherapy-Induced Peripheral Neuropathy.

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.

Oncologist. 2019 Aug;24(8):e784-e792. doi: 10.1634/theoncologist.2018-0418. Epub 2018 Nov 23.

8.

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

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.

Genet Med. 2019 Mar;21(3):705-717. doi: 10.1038/s41436-018-0106-5. Epub 2018 Jul 27.

9.

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.

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.

Genet Med. 2018 Dec;20(12):1652-1662. doi: 10.1038/s41436-018-0068-7. Epub 2018 Jul 16.

PMID:
30008476
10.

Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation.

Espinosa M, Roldán-Romero JM, Duran I, de Álava E, Apellaniz-Ruiz M, Cascón A, Garrigos C, Robledo M, Rodriguez-Antona C.

BMC Cancer. 2018 May 15;18(1):561. doi: 10.1186/s12885-018-4467-6.

11.

Gain-of-function mutations in DNMT3A in patients with paraganglioma.

Remacha L, Currás-Freixes M, Torres-Ruiz R, Schiavi F, Torres-Pérez R, Calsina B, Letón R, Comino-Méndez I, Roldán-Romero JM, Montero-Conde C, Santos M, Pérez LI, Pita G, Alonso MR, Honrado E, Pedrinaci S, Crespo-Facorro B, Percesepe A, Falcioni M, Rodríguez-Perales S, Korpershoek E, Ramón-Maiques S, Opocher G, Rodríguez-Antona C, Robledo M, Cascón A.

Genet Med. 2018 Dec;20(12):1644-1651. doi: 10.1038/s41436-018-0003-y. Epub 2018 May 8.

PMID:
29740169
12.

Biallelic TSC2 Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus.

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.

J Natl Compr Canc Netw. 2018 Apr;16(4):352-358. doi: 10.6004/jnccn.2017.7041.

PMID:
29632054
13.

Exceptional Response to Temsirolimus in a Metastatic Clear Cell Renal Cell Carcinoma With an Early Novel MTOR-Activating Mutation.

Rodríguez-Moreno JF, Apellaniz-Ruiz M, Roldan-Romero JM, Durán I, Beltrán L, Montero-Conde C, Cascón A, Robledo M, García-Donas J, Rodríguez-Antona C.

J Natl Compr Canc Netw. 2017 Nov;15(11):1310-1315. doi: 10.6004/jnccn.2017.7018.

PMID:
29118224
14.

Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.

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.

Clin Cancer Res. 2017 Oct 15;23(20):6315-6324. doi: 10.1158/1078-0432.CCR-16-2250. Epub 2017 Jul 18.

15.

PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.

Currás-Freixes M, Piñeiro-Yañez E, Montero-Conde C, Apellániz-Ruiz M, Calsina B, Mancikova V, Remacha L, Richter S, Ercolino T, Rogowski-Lehmann N, Deutschbein T, Calatayud M, Guadalix S, Álvarez-Escolá C, Lamas C, Aller J, Sastre-Marcos J, Lázaro C, Galofré JC, Patiño-García A, Meoro-Avilés A, Balmaña-Gelpi J, De Miguel-Novoa P, Balbín M, Matías-Guiu X, Letón R, Inglada-Pérez L, Torres-Pérez R, Roldán-Romero JM, Rodríguez-Antona C, Fliedner SMJ, Opocher G, Pacak K, Korpershoek E, de Krijger RR, Vroonen L, Mannelli M, Fassnacht M, Beuschlein F, Eisenhofer G, Cascón A, Al-Shahrour F, Robledo M.

J Mol Diagn. 2017 Jul;19(4):575-588. doi: 10.1016/j.jmoldx.2017.04.009. Epub 2017 May 25.

16.

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

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.

Nat Rev Endocrinol. 2017 Apr;13(4):233-247. doi: 10.1038/nrendo.2016.185. Epub 2016 Nov 18. Review.

17.

Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

Romanet P, Guerin C, Pedini P, Essamet W, Castinetti F, Sebag F, Roche P, Cascon A, Tischler AS, Pacak K, Barlier A, Taïeb D.

Endocr Pathol. 2017 Dec;28(4):302-307. doi: 10.1007/s12022-016-9460-5.

18.

Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.

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, Cascón A, Robledo M, Rodríguez-Antona C.

Clin Cancer Res. 2017 Mar 1;23(5):1227-1235. doi: 10.1158/1078-0432.CCR-16-0694. Epub 2016 Aug 31.

19.

ATRX driver mutation in a composite malignant pheochromocytoma.

Comino-Méndez I, Tejera ÁM, Currás-Freixes M, Remacha L, Gonzalvo P, Tonda R, Letón R, Blasco MA, Robledo M, Cascón A.

Cancer Genet. 2016 Jun;209(6):272-7. doi: 10.1016/j.cancergen.2016.04.058. Epub 2016 Apr 26.

PMID:
27209355
20.

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

Currás-Freixes M, Inglada-Pérez L, Mancikova V, Montero-Conde C, Letón R, Comino-Méndez I, Apellániz-Ruiz M, Sánchez-Barroso L, Aguirre Sánchez-Covisa M, Alcázar V, Aller J, Álvarez-Escolá C, Andía-Melero VM, Azriel-Mira S, Calatayud-Gutiérrez M, Díaz JÁ, Díez-Hernández A, Lamas-Oliveira C, Marazuela M, Matias-Guiu X, Meoro-Avilés A, Patiño-García A, Pedrinaci S, Riesco-Eizaguirre G, Sábado-Álvarez C, Sáez-Villaverde R, Sainz de Los Terreros A, Sanz Guadarrama Ó, Sastre-Marcos J, Scolá-Yurrita B, Segura-Huerta Á, Serrano-Corredor Mde L, Villar-Vicente MR, Rodríguez-Antona C, Korpershoek E, Cascón A, Robledo M.

J Med Genet. 2015 Oct;52(10):647-56. doi: 10.1136/jmedgenet-2015-103218. Epub 2015 Aug 12.

PMID:
26269449
21.

Functional and in silico assessment of MAX variants of unknown significance.

Comino-Méndez I, Leandro-García LJ, Montoya G, Inglada-Pérez L, de Cubas AA, Currás-Freixes M, Tysoe C, Izatt L, Letón R, Gómez-Graña Á, Mancikova V, Apellániz-Ruiz M, Mannelli M, Schiavi F, Favier J, Gimenez-Roqueplo AP, Timmers HJ, Roncador G, Garcia JF, Rodríguez-Antona C, Robledo M, Cascón A.

J Mol Med (Berl). 2015 Nov;93(11):1247-55. doi: 10.1007/s00109-015-1306-y. Epub 2015 Jun 14.

PMID:
26070438
22.

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

de Cubas AA, Korpershoek E, Inglada-Pérez L, Letouzé E, Currás-Freixes M, Fernández AF, Comino-Méndez I, Schiavi F, Mancikova V, Eisenhofer G, Mannelli M, Opocher G, Timmers H, Beuschlein F, de Krijger R, Cascon A, Rodríguez-Antona C, Fraga MF, Favier J, Gimenez-Roqueplo AP, Robledo M.

Clin Cancer Res. 2015 Jul 1;21(13):3020-30. doi: 10.1158/1078-0432.CCR-14-2804. Epub 2015 Mar 30.

23.

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

Cascón A, Comino-Méndez I, Currás-Freixes M, de Cubas AA, Contreras L, Richter S, Peitzsch M, Mancikova V, Inglada-Pérez L, Pérez-Barrios A, Calatayud M, Azriel S, Villar-Vicente R, Aller J, Setién F, Moran S, Garcia JF, Río-Machín A, Letón R, Gómez-Graña Á, Apellániz-Ruiz M, Roncador G, Esteller M, Rodríguez-Antona C, Satrústegui J, Eisenhofer G, Urioste M, Robledo M.

J Natl Cancer Inst. 2015 Mar 11;107(5). pii: djv053. doi: 10.1093/jnci/djv053.

PMID:
25766404
24.

Whole-exome sequencing reveals defective CYP3A4 variants predictive of paclitaxel dose-limiting neuropathy.

Apellániz-Ruiz M, Lee MY, Sánchez-Barroso L, Gutiérrez-Gutiérrez G, Calvo I, García-Estévez L, Sereno M, García-Donás J, Castelo B, Guerra E, Leandro-García LJ, Cascón A, Johansson I, Robledo M, Ingelman-Sundberg M, Rodríguez-Antona C.

Clin Cancer Res. 2015 Jan 15;21(2):322-8. doi: 10.1158/1078-0432.CCR-14-1758. Epub 2014 Nov 14.

25.

High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme.

Apellániz-Ruiz M, Inglada-Pérez L, Naranjo ME, Sánchez L, Mancikova V, Currás-Freixes M, de Cubas AA, Comino-Méndez I, Triki S, Rebai A, Rasool M, Moya G, Grazina M, Opocher G, Cascón A, Taboada-Echalar P, Ingelman-Sundberg M, Carracedo A, Robledo M, Llerena A, Rodríguez-Antona C.

Pharmacogenomics J. 2015 Jun;15(3):288-92. doi: 10.1038/tpj.2014.67. Epub 2014 Nov 4.

PMID:
25348618
26.

VEGF, VEGFR3, and PDGFRB protein expression is influenced by RAS mutations in medullary thyroid carcinoma.

Mancikova V, Inglada-Pérez L, Curras-Freixes M, de Cubas AA, Gómez Á, Letón R, Kersten I, Leandro-García LJ, Comino-Méndez I, Apellaniz-Ruiz M, Sánchez L, Cascón A, Sastre-Marcos J, García JF, Rodríguez-Antona C, Robledo M.

Thyroid. 2014 Aug;24(8):1251-5. doi: 10.1089/thy.2013.0579. Epub 2014 Jun 3.

PMID:
24754736
27.

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.

Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2014 May 1;23(9):2440-6. doi: 10.1093/hmg/ddt639. Epub 2013 Dec 13.

PMID:
24334767
28.

Usefulness of negative and weak-diffuse pattern of SDHB immunostaining in assessment of SDH mutations in paragangliomas and pheochromocytomas.

Castelblanco E, Santacana M, Valls J, de Cubas A, Cascón A, Robledo M, Matias-Guiu X.

Endocr Pathol. 2013 Dec;24(4):199-205. doi: 10.1007/s12022-013-9269-4.

PMID:
24096807
29.

Influence of RET mutations on the expression of tyrosine kinases in medullary thyroid carcinoma.

Rodríguez-Antona C, Muñoz-Repeto I, Inglada-Pérez L, de Cubas AA, Mancikova V, Cañamero M, Maliszewska A, Gómez A, Letón R, Leandro-García LJ, Comino-Méndez I, Sanchez L, Alvarez-Escolá C, Aller J, Cascón A, Robledo M.

Endocr Relat Cancer. 2013 Jul 12;20(4):611-9. doi: 10.1530/ERC-12-0316. Print 2013 Aug.

PMID:
23780998
30.

Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.

de Cubas AA, Leandro-García LJ, Schiavi F, Mancikova V, Comino-Méndez I, Inglada-Pérez L, Perez-Martinez M, Ibarz N, Ximénez-Embún P, López-Jiménez E, Maliszewska A, Letón R, Gómez Graña A, Bernal C, Alvarez-Escolá C, Rodríguez-Antona C, Opocher G, Muñoz J, Megias D, Cascón A, Robledo M.

Endocr Relat Cancer. 2013 Jun 24;20(4):477-93. doi: 10.1530/ERC-12-0183. Print 2013 Aug.

PMID:
23660872
31.

[Hereditary pheochromocytoma and paraganglioma: the disease with ten faces].

Cascón A, Robledo M.

Med Clin (Barc). 2013 May 13;140(10):451-2. doi: 10.1016/j.medcli.2012.12.009. Epub 2013 Feb 22. Spanish. No abstract available.

PMID:
23462543
32.

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

Comino-Méndez I, de Cubas AA, Bernal C, Álvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL, Pedrinaci S, Rapizzi E, Ercolino T, Bernini G, Bacca A, Letón R, Pita G, Alonso MR, Leandro-García LJ, Gómez-Graña A, Inglada-Pérez L, Mancikova V, Rodríguez-Antona C, Mannelli M, Robledo M, Cascón A.

Hum Mol Genet. 2013 Jun 1;22(11):2169-76. doi: 10.1093/hmg/ddt069. Epub 2013 Feb 14.

PMID:
23418310
33.

Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients.

Cascón A, Inglada-Pérez L, Comino-Méndez I, de Cubas AA, Letón R, Mora J, Marazuela M, Galofré JC, Quesada-Charneco M, Robledo M.

Endocr Relat Cancer. 2013 May 30;20(3):L1-6. doi: 10.1530/ERC-12-0339. Print 2013 Jun. No abstract available.

PMID:
23404858
34.

Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions.

Maliszewska A, Leandro-Garcia LJ, Castelblanco E, Macià A, de Cubas A, Goméz-López G, Inglada-Pérez L, Álvarez-Escolá C, De la Vega L, Letón R, Gómez-Graña Á, Landa I, Cascón A, Rodríguez-Antona C, Borrego S, Zane M, Schiavi F, Merante-Boschin I, Pelizzo MR, Pisano DG, Opocher G, Matias-Guiu X, Encinas M, Robledo M.

Am J Pathol. 2013 Feb;182(2):350-62. doi: 10.1016/j.ajpath.2012.10.025. Epub 2012 Nov 28.

35.

Hematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.

Leandro-García LJ, Leskelä S, Inglada-Pérez L, Landa I, de Cubas AA, Maliszewska A, Comino-Méndez I, Letón R, Gómez-Graña Á, Torres R, Ramírez JC, Álvarez S, Rivera J, Martínez C, Lozano ML, Cascón A, Robledo M, Rodríguez-Antona C.

Cancer Res. 2012 Sep 15;72(18):4744-52. doi: 10.1158/0008-5472.CAN-11-2861. Epub 2012 Jul 17.

36.

Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy.

Leandro-García LJ, Leskelä S, Jara C, Gréen H, Avall-Lundqvist E, Wheeler HE, Dolan ME, Inglada-Perez L, Maliszewska A, de Cubas AA, Comino-Méndez I, Mancikova V, Cascón A, Robledo M, Rodríguez-Antona C.

Clin Cancer Res. 2012 Aug 15;18(16):4441-8. Epub 2012 Jun 20.

37.

MAX and MYC: a heritable breakup.

Cascón A, Robledo M.

Cancer Res. 2012 Jul 1;72(13):3119-24. doi: 10.1158/0008-5472.CAN-11-3891. Epub 2012 Jun 15. Review.

38.

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M.

Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27.

39.

From transcriptional profiling to tumor biology in pheochromocytoma and paraganglioma.

Cascón A, Tennant DA.

Endocr Pathol. 2012 Mar;23(1):15-20. doi: 10.1007/s12022-012-9195-x. Review.

PMID:
22323008
40.

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.

Cascón A, Huarte-Mendicoa CV, Javier Leandro-García L, Letón R, Suela J, Santana A, Costa MB, Comino-Méndez I, Landa I, Sánchez L, Rodríguez-Antona C, Cigudosa JC, Robledo M.

Genes Chromosomes Cancer. 2011 Nov;50(11):922-9. doi: 10.1002/gcc.20911. Epub 2011 Aug 11.

PMID:
21837707
41.

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández-Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, Roncador G, Rodríguez-Antona C, Benítez J, Mannelli M, Opocher G, Robledo M, Cascón A.

Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861.

PMID:
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Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL.

JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830.

PMID:
21156949
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Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.

López-Jiménez E, Gómez-López G, Leandro-García LJ, Muñoz I, Schiavi F, Montero-Conde C, de Cubas AA, Ramires R, Landa I, Leskelä S, Maliszewska A, Inglada-Pérez L, de la Vega L, Rodríguez-Antona C, Letón R, Bernal C, de Campos JM, Diez-Tascón C, Fraga MF, Boullosa C, Pisano DG, Opocher G, Robledo M, Cascón A.

Mol Endocrinol. 2010 Dec;24(12):2382-91. doi: 10.1210/me.2010-0256. Epub 2010 Oct 27.

44.

Brick1 is an essential regulator of actin cytoskeleton required for embryonic development and cell transformation.

Escobar B, de Cárcer G, Fernández-Miranda G, Cascón A, Bravo-Cordero JJ, Montoya MC, Robledo M, Cañamero M, Malumbres M.

Cancer Res. 2010 Nov 15;70(22):9349-59. doi: 10.1158/0008-5472.CAN-09-4491. Epub 2010 Sep 22.

45.

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

Erlic Z, Ploeckinger U, Cascon A, Hoffmann MM, von Duecker L, Winter A, Kammel G, Bacher J, Sullivan M, Isermann B, Fischer L, Raffel A, Knoefel WT, Schott M, Baumann T, Schaefer O, Keck T, Baum RP, Milos I, Muresan M, Peczkowska M, Januszewicz A, Cupisti K, Tönjes A, Fasshauer M, Langrehr J, von Wussow P, Agaimy A, Schlimok G, Lamberts R, Wiech T, Schmid KW, Weber A, Nunez M, Robledo M, Eng C, Neumann HP; VHL-ICT Consortium; German NET Registry.

Endocr Relat Cancer. 2010 Oct 5;17(4):875-83. doi: 10.1677/ERC-10-0037. Print 2010 Dec.

PMID:
20660572
46.

Are we overestimating the penetrance of mutations in SDHB?

Schiavi F, Milne RL, Anda E, Blay P, Castellano M, Opocher G, Robledo M, Cascón A.

Hum Mutat. 2010 Jun;31(6):761-2. doi: 10.1002/humu.21269. No abstract available.

PMID:
20513144
47.

Polymorphisms in cytochromes P450 2C8 and 3A5 are associated with paclitaxel neurotoxicity.

Leskelä S, Jara C, Leandro-García LJ, Martínez A, García-Donas J, Hernando S, Hurtado A, Vicario JC, Montero-Conde C, Landa I, López-Jiménez E, Cascón A, Milne RL, Robledo M, Rodríguez-Antona C.

Pharmacogenomics J. 2011 Apr;11(2):121-9. doi: 10.1038/tpj.2010.13. Epub 2010 Mar 9.

PMID:
20212519
48.

Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.

Leandro-García LJ, Leskelä S, Landa I, Montero-Conde C, López-Jiménez E, Letón R, Cascón A, Robledo M, Rodríguez-Antona C.

Cytoskeleton (Hoboken). 2010 Apr;67(4):214-23. doi: 10.1002/cm.20436.

PMID:
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49.

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suárez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M.

Lancet Oncol. 2010 Apr;11(4):366-72. doi: 10.1016/S1470-2045(10)70007-3. Epub 2010 Jan 11.

PMID:
20071235
50.

Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis.

Rodríguez-Antona C, Pallares J, Montero-Conde C, Inglada-Pérez L, Castelblanco E, Landa I, Leskelä S, Leandro-García LJ, López-Jiménez E, Letón R, Cascón A, Lerma E, Martin MC, Carralero MC, Mauricio D, Cigudosa JC, Matias-Guiu X, Robledo M.

Endocr Relat Cancer. 2010 Jan 29;17(1):7-16. doi: 10.1677/ERC-08-0304. Print 2010 Mar.

PMID:
19776290

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