The Genetic Variation of Cancer Group is now the Hereditary Cancer Group at the Institut de Recerca Germans Trias i Pujol (IGTP) and part of the Program for Predictive and Personalized Medicine of Cancer.

Please see the IGTP website here

This page is being kept up to date, but for information about the institute, please see the IGTP page.

Our group studies genetic diseases that confer a high predisposition to develop cancer. We study the genetics of these cancer syndromes, the molecular basis of the associated clinical manifestations and in particular, the molecular pathogenesis of the associated tumors. Among the different cancer syndromes, our group is focused in the Neurofibromatoses (NFs) and related diseases like the RASopathies. The activity of the group is centered in the genomics of NF-associated tumors and the generation of new models to understand their molecular pathogenesis. The group also performs the genetic diagnostics of Neurofibromatoses and RASopathies and participates of the CSUR of Phakomatoses Hospital Universitari Germans Trias i Pujol- Institut Català d'Oncologia (HGTiP-ICO). Finally, the group is also committed to the development of new tools for the genetic diagnostics of hereditary cancer jointly with the Hereditary Cancer Program at ICO.


Our Research

Our Research

The research performed by the group can be grouped in four areas that in all cases use wet and dry lab capabilities:

Cancer genomics and integrative biology:

We perform genomic analyses at different levels (genomics, transcriptomics, epigenomics) and use different types of materials (primary tumors, primary cell lines, selected cell types, in vitro and in vivo models, iPSCs, etc) to investigate on tumor formation, development and dissemination, upon the integration of all this information by using bioinformatics.

Stem cell and iPSC-based models for cancer and regeneration:

We investigate the identity and behavior of the cell type that originates benign tumors of the peripheral nervous system (PNS) associated to the NFs. We do that by generating iPSCs directly from NF-associated benign tumor cells and developing tumoroid models, from iPSCs or directly from tumors. We want to use iPSCs also to understand the formation of cells of the PNS and use them with regeneration purposes.

Molecular pathogenesis of the Neurofibromatoses and related diseases:

We investigate the molecular basis of the Neurofibromatoses and RASopathies and their associated clinical traits. We do that by investigating on the clinical presentations of patients visited at the Phakomatoses CSUR HGTiP-ICO or other clinical settings, or by using models that facilitate experimental approaches.


Innovation for genetic diagnostics:

Together with the Hereditary Cancer Program at ICO we are constantly trying to improve the genetic diagnostics of hereditary cancer. We try to develop cost-effective strategies that efficiently allow the identification and interpretation of disease-causing mutations using genomic and bioinformatic techniques.

Group Members:

Previous Members of Lab:


Dr. Conxi Lázaro
Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL

Dr. Ignacio Blanco
Unitat de Consell Genètic, Institut Català d'Oncologia

Dr. Nancy Ratner and The NF1 Microarray Consortium
Divisions of Experimental Hematology and Biomedical Informatics, Cincinnati Children's Hospital Research Foundation, University of Cincinnati College of Medicine, Cincinnati, OH, USA

Dr. Hildegard Kehrer-Sawatzki
Institute of Human Genetics, University of Ulm, Germany

Dr. Eric Legius
Center of Human Genetics, Catholic University of Leuven, Belgium

Tapan Mehta
Department of Biostatistics, Section on Statistical Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA


  • Number of Benign Tumors as an Indicator of Somatic Mutation Rate in vivo.

    Investigador principalFinanciamientoFecha de inicioFecha de finalización
    Eduard Serra ISCIII01-01-200931-12-2011
  • FIS Eduard Serra Title pending

    Investigador principalFinanciamientoFecha de inicioFecha de finalización
    Eduard Serra ISCIII01-01-201231-12-2014


Eduard Serra
Office 1-14, lab 1-13 (first floor)
(+34) 93 554 30 67

Hereditary Cancer

Publicaciones relevantes

Castellanos E, Gel B, Rosas I, Tornero E, Santín S, Pluvinet R, Velasco J, Sumoy L, Del Valle J, Perucho M, Blanco I, Navarro M, Brunet J, Pineda M, Feliubadaló L, Capellà G, Lázaro C, Serra E. A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape. Sci Rep 2017 Jan; 7: 39348

Feliubadaló L, Tonda R, Gausachs M, Trotta JR, Castellanos E, Lopez-Doriga A, Teulé A, Tornero E, Del Valle J, Gel B, Gut M, Pineda M, González S, Menéndez M, Navarro M, Capellà G, Gut I, Serra E, Brunet J, Beltran S, Lázaro C. Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. Sci Rep 2017 Jan; 7: 37984

Gel B, Díez-Villanueva A, Serra E, Buschbeck M, Peinado MA, Malinverni R. regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests. Bioinformatics 2016 Jan; 32(2): 289-91

Castellanos E, Bielsa I, Carrato C, Rosas I, Solanes A, Hostalot C, Amilibia E, Prades J, Roca-Ribas F, Lázaro C, Blanco I, Serra E. Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb. BMC Med Genomics 2015 Jan; 8: 2

Castellsagué J, Gel B, Fernández-Rodríguez J, Llatjós R, Blanco I, Benavente Y, Pérez-Sidelnikova D, García-Del Muro J, Viñals JM, Vidal A, Valdés-Mas R, Terribas E, Lopez-Doriga A, Pujana MA, Capellà G, Puente XS, Serra E, Villanueva A, Lázaro C. Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine. EMBO Mol Med 2015 Mar; 7(5): 608-27

Feliubadaló L, Lopez-Doriga A, Castellsagué E, Del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellà G, Lázaro C. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur. J. Hum. Genet. 2013 Aug; 21(8): 864-70

Rahrmann EP, Watson AL, Keng VW, Choi K, Moriarity BS, Beckmann DA, Wolf NK, Sarver A, Collins MH, Moertel CL, Wallace MR, Gel B, Serra E, Ratner N, Largaespada DA. Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and pathways driving tumorigenesis. Nat. Genet. 2013 Jul; 45(7): 756-66

Gomez-Sanchez JA, Gomis-Coloma C, Morenilla-Palao C, Peiro G, Serra E, Serrano M, Cabedo H. Epigenetic induction of the Ink4a/Arf locus prevents Schwann cell overproliferation during nerve regeneration and after tumorigenic challenge. Brain 2013 Jul; 136: 2262-78

Castellanos E, Rosas I, Solanes A, Bielsa I, Lázaro C, Carrato C, Hostalot C, Prades P, Roca-Ribas F, Blanco I, Serra E. In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2. Eur. J. Hum. Genet. 2013 Jul; 21(7): 769-73

Terribas E, Garcia-Linares C, Lázaro C, Serra E. Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis. Clin. Chem. 2013 Jun; 59(6): 928-37

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Generalitat de Catalunya

Unió Europea


Universitat Autònoma de Barcelona

Ajuntament de Badalona

Institut Català de la Salut

Germans Trias i Pujol Hospital

Fundació Institut d'investigació en Ciències de la Salut Germans Trias i Pujol

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