Research
Cáncer

Cáncer Hereditario

Publications

  • Creus-Bachiller, Edgar, Fernandez-Rodriguez, Juana, Magallon-Lorenz, Miriam, Ortega-Bertran, Sara, Navas-Rutete, Susana, Romagosa, Cleofe, Silva, Tulio M., Pane, Maria, Estival, Anna, Sidelnikova, Diana Perez, Morell, Mireia, Mazuelas, Helena, Carrio, Meritxell, Lausova, Tereza, Reuss, David, Gel, Bernat, Villanueva, Alberto, Serra, Eduard and Lazaro, Conxi.

    Expanding a precision medicine platform for malignant peripheral nerve sheath tumors: New patient-derived orthotopic xenografts, cell lines and tumor entities

    Molecular Oncology 18(4): 895-917

    [doi:10.1002/1878-0261.13534]

  • Mazuelas, H, Magallon-Lorenz, M, Uriarte-Arrazola, I, Negro, A, Rosas, I, Blanco, I, Castellanos, E, Lazaro, C, Gel, B, Carrio, M and Serra, E.

    Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas

    JCI insight 9(3):

    [doi:10.1172/jci.insight.168826]

  • Malinverni, Roberto, Corujo, David, Gel, Bernat and Buschbeck, Marcus.

    regioneReloaded: evaluating the association of multiple genomic region sets

    BIOINFORMATICS 39(11):

    [doi:10.1093/bioinformatics/btad704]

  • Jiang, CH, Mckay, RM, Lee, SY, Romo, CG, Blakeley, JO, Haniffa, M, Serra, E, Steensma, MR, Largaespada, D and Le, LQ.

    Cutaneous Neurofibroma Heterogeneity: Factors that Influence Tumor Burden in Neurofibromatosis Type 1

    Journal of Investigative Dermatology 143(8): 1369-1377

    [doi:10.1016/j.jid.2022.12.027]

  • Staedtke, V, Topilko, P, Le, LQ, Grimes, K, Largaespada, DA, Cagan, RL, Steensma, MR, Stemmer-Rachamimov, A, Blakeley, JO, Rhodes, SD, Ly, I, Romo, CG, Lee, SY and Serra, E.

    Existing and Developing Preclinical Models for Neurofibromatosis Type 1LRelated Cutaneous Neurofibromas

    Journal of Investigative Dermatology 143(8): 1378-1387

    [doi:10.1016/j.jid.2023.01.042]

  • Mazuelas, Helena, Uriarte-Arrazola, Itziar, Fernandez-Rodriguez, Juana, Magallon-Lorenz, Miriam, Villanueva, Alberto, Lazaro, Conxi, Gel, Bernat, Serra, Eduard and Carrio, Meritxell.

    Generation of human iPSC-derived neurofibromaspheres for in vitro and in vivo uses

    Star Protocols 4(2):

    [doi:10.1016/j.xpro.2023.102198]

  • Magallón-Lorenz, M, Terribas, E, Ortega-Bertran, S, Creus-Bachiller, E, Fernández, M, Requena, G, Rosas, I, Mazuelas, H, Uriarte-Arrazola, I, Negro, A, Lausová, T, Castellanos, E, Blanco, I, DeVries, G, Kawashima, H, Legius, E, Brems, H, Mautner, V, Kluwe, L, Ratner, N, Wallace, M, Fernández-Rodriguez, J, Lázaro, C, Fletcher, JA, Reuss, D, Carrió, M, Gel, B and Serra, E.

    Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

    iScience 26(2):

    [doi:10.1016/j.isci.2023.106096]

  • Catasus, Nuria, Rosas, Inma, Bonache, Sandra, Negro, Alex, Torres-Martin, Miguel, Plana-Pla, Adria, Salvador, Hector, Serra, Eduard, Blanco, Ignacio and Castellanos, Elisabeth.

    Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

    MOLECULAR THERAPY-NUCLEIC ACIDS 30: 493-505

    [doi:10.1016/j.omtn.2022.10.026]

  • Garcia, B, Catasus, N, Ros, A, Rosas, I, Negro, A, Guerrero-Murillo, M, Valero, AM, Duat-Rodriguez, A, Becerra, JL, Bonache, S, Garcia, CL, Comas, C, Bielsa, I, Serra, E, Hernandez-Chico, C, Martin, Y, Castellanos, E and Blanco, I.

    Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

    Journal of Medical Genetics 59(10): 1017-1023

    [doi:10.1136/jmedgenet-2021-108301]

  • Plana-Pla, A, Garcia, B, Munera-Campos, M, Catasus, N, Arenas, ES, Blanco, I, Perez, EC and Bielsa, I.

    Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY 36(9): 1632-1640

    [doi:10.1111/jdv.18190]

  • Catasus, N, Garcia, B, Galvan-Femenia, I, Plana, A, Negro, A, Rosas, I, Ros, A, Amilibia, E, Becerra, JL, Hostalot, C, Rocaribas, F, Bielsa, I, Garcia, CL, de Cid, R, Serra, E, Blanco, I and Castellanos, E.

    Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component

    Journal of Medical Genetics 59(7): 678-686

    [doi:10.1136/jmedgenet-2020-107548]

  • Ferna, J, Creus-Bachiller, E, Zhang, XH, Martinez-Iniesta, M, Ortega-Bertran, S, Guha, R, Thomas, CJ, Wallace, MR, Romagosa, C, Salazar-Huayna, L, Reilly, KM, Blakely, JO, Serra-Musach, J, Pujana, MA, Serra, E, Villanueva, A, Ferrer, M and Lazaro, C.

    A High-Throughput Screening Platform Identifies Novel Combination Treatments for Malignant Peripheral Nerve Sheath Tumors

    Molecular Cancer Therapeutics 21(7):

    [doi:10.1158/1535-7163.MCT-21-0947]

  • Mazuelas, H, Magallon-Lorenz, M, Fernandez-Rodriguez, J, Uriarte-Arrazola, I, Richaud-Patin, Y, Terribas, E, Villanueva, A, Castellanos, E, Blanco, I, Raya, A, Chojnacki, J, Heyn, H, Romagosa, C, Lazaro, C, Gel, B, Carrio, M and Serra, E.

    Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas

    Cell Reports 38(7):

    [doi:10.1016/j.celrep.2022.110385]

  • Moreno-Cabrera JM, Del Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellà G, Gel B and Lázaro C.

    Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.

    Journal of Medical Genetics 59(1): 75-78

    [doi:10.1136/jmedgenet-2020-107366]

  • Piotrowski, A, Koczkowska, M, Poplawski, AB, Bartoszewski, R, Kroliczewski, J, Mieczkowska, A, Gomes, A, Crowley, MR, Crossman, DK, Chen, YJ, Lao, P, Serra, E, Llach, MC, Castellanos, E and Messiaen, LM.

    Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience

    Human Mutation 43(1): 74-84

    [doi:10.1002/humu.24294]

  • Moreno-Cabrera, JM, Del Valle, J, Castellanos, E, Feliubadalo, L, Pineda, M, Serra, E, Capella, G, Lazaro, C and Gel, B.

    CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

    BIOINFORMATICS 37(22): 4227-4229

    [doi:10.1093/bioinformatics/btab356]

  • Magallon-Lorenz, M, Fernandez-Rodriguez, J, Terribas, E, Creus-Batchiller, E, Romagosa, C, Estival, A, Sidelnikova, DP, Salvador, H, Villanueva, A, Blanco, I, Carrio, M, Lazaro, C, Serra, E and Gel, B.

    Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation

    Human Genetics 140(8): 1241-1252

    [doi:10.1007/s00439-021-02296-x]

  • Biayna, J, Mazuelas, H, Gel, B, Terribas, E, Dumbovic, G, Rosas, I, Fernandez-Rodriguez, J, Blanco, I, Castellanos, E, Carrio, M, Lazaro, C and Serra, E.

    Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

    Scientific Reports 11(1): 3661-3661

    [doi:10.1038/s41598-021-83152-w]

  • Mazuelas, H, Carrio, M and Serra, E.

    Modeling tumors of the peripheral nervous system associated with Neurofibromatosis type 1: Reprogramming plexiform neurofibroma cells

    Stem Cell Research 49: 102068-102068

    [doi:10.1016/j.scr.2020.102068]

  • Moreno-Cabrera, JM, del Valle, J, Castellanos, E, Feliubadalo, L, Pineda, M, Brunet, J, Serra, E, Capella, G, Lazaro, C and Gel, B.

    Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

    European Journal of Human Genetics 28(12): 1645-1655

    [doi:10.1038/s41431-020-0675-z]

  • Terribas E, Fernández M, Mazuelas H, Fernández-Rodríguez J, Biayna J, Blanco I, Bernal G, Ramos-Oliver I, Thomas C, Guha R, Zhang X, Gel B, Romagosa C, Ferrer M, Lázaro C and Serra E.

    KIF11 and KIF15 mitotic kinesins are potential therapeutic vulnerabilities for malignant peripheral nerve sheath tumors.

    Neuro-Oncology Advances 2(Suppl 1):

    [doi:10.1093/noajnl/vdz061]

  • Palomo-Irigoyen, M, Perez-Andres, E, Iruarrizaga-Lejarreta, M, Barreira-Manrique, A, Tamayo-Caro, M, Vila-Vecilla, L, Moreno-Cugnon, L, Beitia, N, Medrano, D, Fernandez-Ramos, D, Lozano, JJ, Okawa, S, Lavin, JL, Martin-Martin, N, Sutherland, JD, de Juan, VG, Gonzalez-Lopez, M, Macias-Camara, N, Mosen-Ansorena, D, Laraba, L, Hanemann, CO, Ercolano, E, Parkinson, DB, Schultz, CW, Arauzo-Bravo, MJ, Ascension, AM, Gerovska, D, Iribar, H, Izeta, A, Pytel, P, Krastel, P, Provenzani, A, Seneci, P, Carrasco, RD, Del Sol, A, Martinez-Chantar, ML, Barrio, R, Serra, E, Lazaro, C, Flanagan, AM, Gorospe, M, Ratner, N, Aransay, AM, Carracedo, A, Varela-Rey, M and Woodhoo, A.

    HuR/ELAVL1 drives malignant peripheral nerve sheath tumor growth and metastasis

    Journal of Clinical Investigation 130(7): 3848-3864

    [doi:10.1172/JCI130379]

  • Fernandez-Rodriguez, J, La Madrid, AM, Gel, B, Heredia, AC, Salvador, H, Martinez-Iniesta, M, Moutinho, C, Morata, J, Heyn, H, Blanco, I, Creus-Bachiller, E, Capella, G, Farre, L, Vidal, A, Soldado, F, Krauel, L, Sunol, M, Serra, E, Villanueva, A and Lazaro, C.

    Use of patient derived orthotopic xenograft models for real-time therapy guidance in a pediatric sporadic malignant peripheral nerve sheath tumor

    Therapeutic Advances in Medical Oncology 12:

    [doi:10.1177/1758835920929579]

  • Castellanos, E, Rosas, I, Negro, A, Gel, B, Alibes, A, Baena, N, Pineda, M, Pi, G, Pintos, G, Salvador, H, Lazaro, C, Blanco, I, Vilageliu, L, Brems, H, Grinberg, D, Legius, E and Serra, E.

    Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple cafe-au-lait macules

    Clinical Genetics 97(2): 264-275

    [doi:10.1111/cge.13649]

  • Carrio, M, Mazuelas, H, Richaud-Patin, Y, Gel, B, Terribas, E, Rosas, I, Jimenez-Delgado, S, Biayna, J, Vendredy, L, Blanco, I, Castellanos, E, Lazaro, C, Raya, A and Serra, E.

    Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

    Stem Cell Reports 12(2): 411-426

    [doi:10.1016/j.stemcr.2019.01.001]