The Genetic Variation of Cancer Group is now the Hereditary Cancer Group at the Institut Germans Trias i Pujol (IGTP).

Please see the IGTP website here


Our group  focuses on studying the genetic predisposition of humans to develop cancer. We study individuals who inherit certain mutated genes that predispose them to develop cancer and we also study the genetics of their tumors to understand the mechanisms leading to tumor development and progression. We use the baker's yeast Saccharomyces cerevisiae to do experimental tests that we cannot perform in humans. As cancer is a complex disease, our group is interested in studying in depth the genetic architecture of complex traits, which are still unknown. We believe our findings will also be useful for understanding what is happening in individuals who develop sporadic cancers, which are more common.

Our Research

We focus our scientific interests in 4 research areas:

Hereditary and familial cancers

We are interested in inherited diseases that predispose an individual to develop cancer and also in families in which there are different individuals affected by the same type of cancer. We are currently mainly focused in Neurofibromatosis type 1 but willing to expand to other cancer syndromes. We work together with molecular diagnostic and genetic counseling units in order to translate research into benefit for the patients. We are also interested in understanding the genetic basis of tumors and other traits associated with these diseases. Finally we are interested in understanding how other genetic factors, besides inherited mutated genes, contribute to the development of associated tumors.

Somatic cell genetics

The group is interested in the somatic mutation rate in humans, in the mutational mechanisms that contribute to it, and in the resulting somatic genomic variation in the different tissues. We would like to understand the role of somatic mutation rate and somatic genomic variation in health and disease.

Yeast as an experimental model for cancer genetics

We use baker's yeast (Saccharomyces cerevisiae) to study cancer genetics in two different ways: a) To study gene-gene and gene-environment interactions in an experimentally tractable genetic model; b) To study how genomic variation affects cell physiology, centering our efforts in DNA repair mechanisms such as homologous recombination and also in prototypical signal transduction pathways involved in cancer.

Genetic architecture of complex traits

Cancer is complex but added to this many aspects of cancer, such as the cellular mechanisms governing tumor development, are complex in themselves. We must therefore investigate the fundamental principles of complex traits, such as their genetic architecture, to understand how complexity in biology is determined genetically and orchestrated molecularly. To do this we study humans and also use a yeast model system.

Available Resources

Molecular karyotype and tumor LOH analysis tools

Our group is developing standard molecular tools for the rapid analysis of mechanisms leading to LOH in tumors. A microsatellite multiplex PCR analysis allow us to assess LOH, identify copy number changes, identify the mutational mechanism leading to LOH and estimate the number of cells within tumors carrying LOH.
We are also using SNP-array analysis to perform molecular karyotypes of tumors.

Click here to download mmpa script

High-throughput genetic analysis in yeast

One of the goals of the group is  to set up the capacity for performing high-throughput genetic analysis in the lab in two different ways:

  1. Analyzing genetic interactions and genetic-environment interactions by the use of yeast deletion strain collections, and translating this information into functional information for the use of other strain collections and yeast resources.
  2. To exploit the genetic variation of distinct yeast strains, combined with genomic resources available in yeast, for better understanding fundamental aspects of complex traits.

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 principalFinançadorsData d'iniciData de finalització
    Eduard Serra ISCIII01-01-200931-12-2011
  • FIS Eduard Serra Title pending

    Investigador principalFinançadorsData d'iniciData de finalització
    Eduard Serra ISCIII01-01-201231-12-2014


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

Genetic Variation and Cancer

Publicacions rellevants

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 May;

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 Feb;

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. 2012 Dec;

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. 2012 Nov;

Patel AV, Eaves D, Jessen WJ, Rizvi TA, Ecsedy JA, Qian MG, Aronow BJ, Perentesis JP, Serra E, Cripe TP, Miller SJ, Ratner N. Ras-driven transcriptome analysis identifies aurora kinase A as a potential malignant peripheral nerve sheath tumor therapeutic target. Clin. Cancer Res. 2012 Sep; 18(18): 5020-30

Garcia-Linares C, Mercadé J, Gel B, Biayna J, Terribas E, Lázaro C, Serra E. Applying microsatellite multiplex PCR analysis (MMPA) for determining allele copy-number status and percentage of normal cells within tumors. PLoS ONE 2012; 7(8): e42682

Fernández-Rodríguez J, Castellsagué J, Benito L, Benavente Y, Capellà G, Blanco I, Serra E, Lázaro C. A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism. Hum. Mutat. 2011 Jul; 32(7): 705-9

Garcia-Linares C, Fernández-Rodríguez J, Terribas E, Mercadé J, Pros E, Benito L, Benavente Y, Capellà G, Ravella A, Blanco I, Kehrer-Sawatzki H, Lázaro C, Serra E. Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. Hum. Mutat. 2011 Jan; 32(1): 78-90

Miller SJ, Jessen WJ, Mehta T, Hardiman A, Sites E, Kaiser S, Jegga AG, Li H, Upadhyaya M, Giovannini M, Muir D, Wallace MR, Lopez E, Serra E, Nielsen GP, Lázaro C, Stemmer-Rachamimov A, Page G, Aronow BJ, Ratner N. Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene. EMBO Mol Med 2009 Jul; 1(4): 236-48

Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellà G, Blanco I, Serra E, Lázaro C. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum. Mutat. 2009 Mar; 30(3): 454-62

Veure-les totes

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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