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Items: 30

1.

Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma.

de Kock L, Yoon JY, Apellaniz-Ruiz M, Pelletier D, McCluggage WG, Stewart CJR, Dickson BC, Rouzbahman M, Clarke BA, Foulkes WD.

Mod Pathol. 2020 Jan 3. doi: 10.1038/s41379-019-0436-0. [Epub ahead of print]

PMID:
31900434
2.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD.

J Clin Invest. 2019 Dec 5. pii: 130206. doi: 10.1172/JCI130206. [Epub ahead of print]

3.

Genes and variants in hematopoiesis-related pathways are associated with gemcitabine/carboplatin-induced thrombocytopenia.

Björn N, Sigurgeirsson B, Svedberg A, Pradhananga S, Brandén E, Koyi H, Lewensohn R, de Petris L, Apellániz-Ruiz M, Rodríguez-Antona C, Lundeberg J, Gréen H.

Pharmacogenomics J. 2019 Oct 15. doi: 10.1038/s41397-019-0099-8. [Epub ahead of print]

PMID:
31616045
4.

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.

Apellaniz-Ruiz M, Segni M, Kettwig M, Glüer S, Pelletier D, Nguyen VH, Wagener R, López C, Muchantef K, Bouron-Dal Soglio D, Sabbaghian N, Wu MK, Zannella S, Fabian MR, Siebert R, Menke J, Priest JR, Foulkes WD.

N Engl J Med. 2019 May 9;380(19):1834-1842. doi: 10.1056/NEJMoa1812169.

PMID:
31067372
5.

A Pilot, Phase II, Randomized, Open-Label Clinical Trial Comparing the Neurotoxicity of Three Dose Regimens of Nab-Paclitaxel to That of Solvent-Based Paclitaxel as the First-Line Treatment for Patients with Human Epidermal Growth Factor Receptor Type 2-Negative Metastatic Breast Cancer.

Ciruelos E, Apellániz-Ruiz M, Cantos B, Martinez-Jáñez N, Bueno-Muiño C, Echarri MJ, Enrech S, Guerra JA, Manso L, Pascual T, Dominguez C, Gonzalo JF, Sanz JL, Rodriguez-Antona C, Sepúlveda JM.

Oncologist. 2019 Nov;24(11):e1024-e1033. doi: 10.1634/theoncologist.2017-0664. Epub 2019 Apr 25.

6.

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.

7.

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.

8.

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
9.

Influence of donor liver CYP3A4*20 loss-of-function genotype on tacrolimus pharmacokinetics in transplanted patients.

Gómez-Bravo MA, Apellaniz-Ruiz M, Salcedo M, Fondevila C, Suarez F, Castellote J, Rufian S, Pons JA, Bilbao I, Alamo JM, Millán O, Brunet M, Rodríguez-Antona C.

Pharmacogenet Genomics. 2018 Feb;28(2):41-48. doi: 10.1097/FPC.0000000000000321.

PMID:
29256966
10.

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.

Apellaniz-Ruiz M, de Kock L, Sabbaghian N, Guaraldi F, Ghizzoni L, Beccuti G, Foulkes WD.

Eur J Endocrinol. 2018 Feb;178(2):K11-K19. doi: 10.1530/EJE-17-0904. Epub 2017 Nov 29.

11.

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
12.

A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?

Saskin A, de Kock L, Sabbaghian N, Apellaniz-Ruiz M, Bozkurt C, Bouron-Dal Soglio D, Foulkes WD.

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26715. Epub 2017 Aug 2.

PMID:
28766837
13.

Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer.

Pascual T, Apellániz-Ruiz M, Pernaut C, Cueto-Felgueroso C, Villalba P, Álvarez C, Manso L, Inglada-Pérez L, Robledo M, Rodríguez-Antona C, Ciruelos E.

PLoS One. 2017 Jul 20;12(7):e0180192. doi: 10.1371/journal.pone.0180192. eCollection 2017.

14.

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.

15.

Evaluation of KDR rs34231037 as a predictor of sunitinib efficacy in patients with metastatic renal cell carcinoma.

Apellániz-Ruiz M, Diekstra MH, Roldán JM, Boven E, Castellano D, Gelderblom H, Mathijssen RHJ, Swen JJ, Böhringer S, García-Donás J, Rini BI, Guchelaar HJ, Rodríguez-Antona C.

Pharmacogenet Genomics. 2017 Jun;27(6):227-231. doi: 10.1097/FPC.0000000000000280.

PMID:
28430711
16.

Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy.

Sereno M, Gutiérrez-Gutiérrez G, Rubio JM, Apellániz-Ruiz M, Sánchez-Barroso L, Casado E, Falagan S, López-Gómez M, Merino M, Gómez-Raposo C, Rodriguez-Salas N, Tébar FZ, Rodríguez-Antona C.

BMC Cancer. 2017 Jan 19;17(1):63. doi: 10.1186/s12885-016-3031-5.

17.

Deep sequencing reveals microRNAs predictive of antiangiogenic drug response.

García-Donas J, Beuselinck B, Inglada-Pérez L, Graña O, Schöffski P, Wozniak A, Bechter O, Apellániz-Ruiz M, Leandro-García LJ, Esteban E, Castellano DE, González Del Alba A, Climent MA, Hernando S, Arranz JA, Morente M, Pisano DG, Robledo M, Rodriguez-Antona C.

JCI Insight. 2016 Jul 7;1(10):e86051. doi: 10.1172/jci.insight.86051.

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.

SNPs associated with activity and toxicity of cabazitaxel in patients with advanced urothelial cell carcinoma.

Duran I, Hagen C, Arranz JÁ, Apellaniz-Ruiz M, Pérez-Valderrama B, Sala N, Lainez N, García-Del Muro X, Noguerón E, Climent MÁ, Maroto P, Font A, García-Donas J, Gallardo E, López-Criado P, González Del Alba A, Sáez MI, Vázquez S, Luque R, Rodríguez-Antona C.

Pharmacogenomics. 2016 Apr;17(5):463-71. doi: 10.2217/pgs.15.186. Epub 2016 Mar 29.

PMID:
27020167
20.

Human genetics: international projects and personalized medicine.

Apellaniz-Ruiz M, Gallego C, Ruiz-Pinto S, Carracedo A, Rodríguez-Antona C.

Drug Metab Pers Ther. 2016 Mar;31(1):3-8. doi: 10.1515/dmpt-2015-0032. Review.

21.

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
22.

Replication of Genetic Polymorphisms Reported to Be Associated with Taxane-Related Sensory Neuropathy in Patients with Early Breast Cancer Treated with Paclitaxel--letter.

Apellániz-Ruiz M, Sánchez-Barroso L, Gutiérrez-Gutiérrez G, Sereno M, García-Donás J, Åvall-Lundqvist E, Gréen H, Brøsen K, Bergmann TK, Rodríguez-Antona C.

Clin Cancer Res. 2015 Jul 1;21(13):3092-3. doi: 10.1158/1078-0432.CCR-14-1885. No abstract available. Erratum in: Clin Cancer Res. 2015 Sep 15;21(18):4244.

23.

Role of cytochrome P450 2C8*3 (CYP2C8*3) in paclitaxel metabolism and paclitaxel-induced neurotoxicity.

Lee MY, Apellániz-Ruiz M, Johansson I, Vikingsson S, Bergmann TK, Brøsen K, Green H, Rodríguez-Antona C, Ingelman-Sundberg M.

Pharmacogenomics. 2015;16(9):929-37. doi: 10.2217/pgs.15.46. Epub 2015 Jun 26.

PMID:
26115084
24.

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
25.

Pazopanib in pretreated advanced neuroendocrine tumors: a phase II, open-label trial of the Spanish Task Force Group for Neuroendocrine Tumors (GETNE).

Grande E, Capdevila J, Castellano D, Teulé A, Durán I, Fuster J, Sevilla I, Escudero P, Sastre J, García-Donas J, Casanovas O, Earl J, Ortega L, Apellaniz-Ruiz M, Rodriguez-Antona C, Alonso-Gordoa T, Díez JJ, Carrato A, García-Carbonero R.

Ann Oncol. 2015 Sep;26(9):1987-93. doi: 10.1093/annonc/mdv252. Epub 2015 Jun 10.

26.

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
27.

Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients.

Benitez-Buelga C, Sanchez-Barroso L, Gallardo M, Apellániz-Ruiz M, Inglada-Pérez L, Yanowski K, Carrillo J, Garcia-Estevez L, Calvo I, Perona R, Urioste M, Osorio A, Blasco MA, Rodriguez-Antona C, Benitez J.

Breast Cancer Res Treat. 2015 Jan;149(2):385-94. doi: 10.1007/s10549-014-3246-6. Epub 2014 Dec 21.

28.

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.

29.

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
30.

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

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