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Items: 34

1.

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.

2.

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.

PMID:
30929736
3.

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. 2018 Nov 23. pii: theoncologist.2018-0418. doi: 10.1634/theoncologist.2018-0418. [Epub ahead of print]

PMID:
30470691
4.

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
5.

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
6.

Increased Global DNA Hypomethylation in Distant Metastatic and Dedifferentiated Thyroid Cancer.

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.

J Clin Endocrinol Metab. 2018 Feb 1;103(2):397-406. doi: 10.1210/jc.2017-01613.

PMID:
29165662
7.

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
8.

Transposon mutagenesis identifies chromatin modifiers cooperating with Ras in thyroid tumorigenesis and detects ATXN7 as a cancer gene.

Montero-Conde C, Leandro-Garcia LJ, Chen X, Oler G, Ruiz-Llorente S, Ryder M, Landa I, Sanchez-Vega F, La K, Ghossein RA, Bajorin DF, Knauf JA, Riordan JD, Dupuy AJ, Fagin JA.

Proc Natl Acad Sci U S A. 2017 Jun 20;114(25):E4951-E4960. doi: 10.1073/pnas.1702723114. Epub 2017 Jun 5.

9.

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.

10.

Sustained ERK inhibition maximizes responses of BrafV600E thyroid cancers to radioiodine.

Nagarajah J, Le M, Knauf JA, Ferrandino G, Montero-Conde C, Pillarsetty N, Bolaender A, Irwin C, Krishnamoorthy GP, Saqcena M, Larson SM, Ho AL, Seshan V, Ishii N, Carrasco N, Rosen N, Weber WA, Fagin JA.

J Clin Invest. 2016 Nov 1;126(11):4119-4124. doi: 10.1172/JCI89067. Epub 2016 Sep 26.

11.

Multilayer OMIC Data in Medullary Thyroid Carcinoma Identifies the STAT3 Pathway as a Potential Therapeutic Target in RETM918T Tumors.

Mancikova V, Montero-Conde C, Perales-Paton J, Fernandez A, Santacana M, Jodkowska K, Inglada-Pérez L, Castelblanco E, Borrego S, Encinas M, Matias-Guiu X, Fraga M, Robledo M.

Clin Cancer Res. 2017 Mar 1;23(5):1334-1345. doi: 10.1158/1078-0432.CCR-16-0947. Epub 2016 Sep 12.

12.

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.

13.

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
14.

Identification of kinase fusion oncogenes in post-Chernobyl radiation-induced thyroid cancers.

Ricarte-Filho JC, Li S, Garcia-Rendueles ME, Montero-Conde C, Voza F, Knauf JA, Heguy A, Viale A, Bogdanova T, Thomas GA, Mason CE, Fagin JA.

J Clin Invest. 2013 Nov;123(11):4935-44. doi: 10.1172/JCI69766. Epub 2013 Oct 25.

15.

Relief of feedback inhibition of HER3 transcription by RAF and MEK inhibitors attenuates their antitumor effects in BRAF-mutant thyroid carcinomas.

Montero-Conde C, Ruiz-Llorente S, Dominguez JM, Knauf JA, Viale A, Sherman EJ, Ryder M, Ghossein RA, Rosen N, Fagin JA.

Cancer Discov. 2013 May;3(5):520-33. doi: 10.1158/2159-8290.CD-12-0531. Epub 2013 Jan 29.

16.

Genome-wide analysis of Pax8 binding provides new insights into thyroid functions.

Ruiz-Llorente S, Carrillo Santa de Pau E, Sastre-Perona A, Montero-Conde C, Gómez-López G, Fagin JA, Valencia A, Pisano DG, Santisteban P.

BMC Genomics. 2012 Apr 24;13:147. doi: 10.1186/1471-2164-13-147.

17.

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.

18.

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
19.

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:
20191564
20.

Allelic variant at -79 (C>T) in CDKN1B (p27Kip1) confers an increased risk of thyroid cancer and alters mRNA levels.

Landa I, Montero-Conde C, Malanga D, De Gisi S, Pita G, Leandro-García LJ, Inglada-Pérez L, Letón R, De Marco C, Rodríguez-Antona C, Viglietto G, Robledo M.

Endocr Relat Cancer. 2010 Jun 1;17(2):317-28. doi: 10.1677/ERC-09-0016. Print 2010 Jun.

PMID:
20075119
21.

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
22.

The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.

Landa I, Ruiz-Llorente S, Montero-Conde C, Inglada-Pérez L, Schiavi F, Leskelä S, Pita G, Milne R, Maravall J, Ramos I, Andía V, Rodríguez-Poyo P, Jara-Albarrán A, Meoro A, del Peso C, Arribas L, Iglesias P, Caballero J, Serrano J, Picó A, Pomares F, Giménez G, López-Mondéjar P, Castello R, Merante-Boschin I, Pelizzo MR, Mauricio D, Opocher G, Rodríguez-Antona C, González-Neira A, Matías-Guiu X, Santisteban P, Robledo M.

PLoS Genet. 2009 Sep;5(9):e1000637. doi: 10.1371/journal.pgen.1000637. Epub 2009 Sep 4.

23.

Determination of CYP2D6 gene copy number by multiplex polymerase chain reaction analysis.

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

Anal Biochem. 2009 Jun 1;389(1):74-6. doi: 10.1016/j.ab.2009.03.021. Epub 2009 Mar 20.

PMID:
19303860
24.

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M.

J Clin Endocrinol Metab. 2009 May;94(5):1701-5. doi: 10.1210/jc.2008-2756. Epub 2009 Mar 3.

PMID:
19258401
25.

SDHC mutation in an elderly patient without familial antecedents.

López-Jiménez E, de Campos JM, Kusak EM, Landa I, Leskelä S, Montero-Conde C, Leandro-García LJ, Vallejo LA, Madrigal B, Rodríguez-Antona C, Robledo M, Cascón A.

Clin Endocrinol (Oxf). 2008 Dec;69(6):906-10. doi: 10.1111/j.1365-2265.2008.03368.x. Epub 2008 Aug 4.

PMID:
18681855
26.

Molecular characterisation of a common SDHB deletion in paraganglioma patients.

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

J Med Genet. 2008 Apr;45(4):233-8. Epub 2007 Dec 5.

PMID:
18057081
27.

Cytochrome P450 3A5 is highly expressed in normal prostate cells but absent in prostate cancer.

Leskelä S, Honrado E, Montero-Conde C, Landa I, Cascón A, Letón R, Talavera P, Cózar JM, Concha A, Robledo M, Rodríguez-Antona C.

Endocr Relat Cancer. 2007 Sep;14(3):645-54.

PMID:
17914095
28.

Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.

Ruiz-Llorente S, Montero-Conde C, Milne RL, Moya CM, Cebrián A, Letón R, Cascón A, Mercadillo F, Landa I, Borrego S, Pérez de Nanclares G, Alvarez-Escolá C, Díaz-Pérez JA, Carracedo A, Urioste M, González-Neira A, Benítez J, Santisteban P, Dopazo J, Ponder BA, Robledo M; Medullary Thyroid Carcinoma Clinical Group.

Cancer Res. 2007 Oct 1;67(19):9561-7.

29.

Molecular profiling related to poor prognosis in thyroid carcinoma. Combining gene expression data and biological information.

Montero-Conde C, Martín-Campos JM, Lerma E, Gimenez G, Martínez-Guitarte JL, Combalía N, Montaner D, Matías-Guiu X, Dopazo J, de Leiva A, Robledo M, Mauricio D.

Oncogene. 2008 Mar 6;27(11):1554-61. Epub 2007 Sep 17.

PMID:
17873908
30.

Overexpression of the S-phase kinase-associated protein 2 in thyroid cancer.

Chiappetta G, De Marco C, Quintiero A, Califano D, Gherardi S, Malanga D, Scrima M, Montero-Conde C, Cito L, Monaco M, Motti ML, Pasquinelli R, Agosti V, Robledo M, Fusco A, Viglietto G.

Endocr Relat Cancer. 2007 Jun;14(2):405-20.

PMID:
17639054
31.

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.

Cascón A, Escobar B, Montero-Conde C, Rodríguez-Antona C, Ruiz-Llorente S, Osorio A, Mercadillo F, Letón R, Campos JM, García-Sagredo JM, Benítez J, Malumbres M, Robledo M.

Hum Mutat. 2007 Jun;28(6):613-21.

PMID:
17311301
32.

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

Cascón A, Montero-Conde C, Ruiz-Llorente S, Mercadillo F, Letón R, Rodríguez-Antona C, Martínez-Delgado B, Delgado M, Díez A, Rovira A, Díaz JA, Robledo M.

Genes Chromosomes Cancer. 2006 Mar;45(3):213-9.

PMID:
16258955
33.

Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.

Cascon A, Cebrian A, Pollan M, Ruiz-Llorente S, Montero-Conde C, Leton R, Gutierrez R, Lesueur F, Milne RL, Gonzalez-Albarran O, Lucas-Morante T, Benitez J, Ponder BA, Robledo M.

J Clin Endocrinol Metab. 2005 Apr;90(4):2127-30. Epub 2004 Dec 28.

PMID:
15623805
34.

A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma.

Cascón A, Ruiz-Llorente S, Rodríguez-Perales S, Honrado E, Martínez-Ramírez A, Letón R, Montero-Conde C, Benítez J, Dopazo J, Cigudosa JC, Robledo M.

Genes Chromosomes Cancer. 2005 Mar;42(3):260-8.

PMID:
15609347

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