ICO-IMPPC Joint Program - Genetic Diagnostics
- Other groups
- Chromatin and Cell Fate
- DNA Bank
- Epigenetic Mechanisms of Cancer and Cell Differentiation
- Cancer Genetics and Epigenetics
- Computational Biology and Bioinformatics
- Cancer and Iron
- ICO-IMPPC Joint Program - Genetic Diagnostics
- Genetic Variation and Cancer
- Genomics and Bioinformatics
- Regulatory Genomics
- ABO Histo-Blood Groups and Cancer
The Joint Program for Molecular Diagnostics of Cancer between the IMPPC and the ICO aims to combine efforts and resources to offer an integrated program focused on the study of hereditary and familial cancers. In the program genetic diagnostics, basic and applied research will be closely coordinated.
This program will collaborate with the Genetic Counseling Program and the Genetic Epidemiology of Cancer Program.
Organization of the Program
ICO-IMPPC Joint Program for Molecular Diagnostics of Hereditary Cancer is co-directed by Dr Gabriel Capellà (ICO) and Dr Manuel Perucho (IMPPC).
The Program consists of three conceptually different units
The Genetic Diagnostics Unit concentrates on screening and detection of mutations and other genetic variations involved in hereditary cancers. It also uses a wide range of functional approaches to improve screening for and interpretation of the genetic alterations detected.
The Methodological and Technological Transfer Unit aims to develop and set up new tools and methodologies to improve screening, detection and interpretation of mutations or other genetic changes found in the genes governing hereditary cancers. This unit will respond to needs arising in the Genetic Diagnostics Unit due to advances in technology or methodology, whether they concern the genetic, molecular or cellular aspects.
The Research Unit will carry out research into aspects related to different hereditary cancers and the tumors that patients present.
Activities of the Program
The activities of the three units in the Joint Program are complementary and will focus on hereditary cancers, such as colorectal and breast amongst others.
Collaborations with other Programs
The Joint Program for Molecular Diagnostics of Cancer between the IMPPC and the ICO works closely with the Genetic Counseling Program (ICO) and the Genetic Epidemiology Program all within the Hereditary Cancer Group.
The main objective of the Genetic Counseling Program is to work to reduce the impact of cancer by identifying individuals and families with increased risk of developing cancer and the implementation of adequate prevention measures in each case. It is an integrated program which combines attending to clinical and psychosocial needs of the patient and family with clinical research and training. It guarantees equal access to its services throughout the region.
The Genetic Epidemiology Program carries out studies at population level to better understand how genetic variation in individuals predisposes them to develop cancer, taking into account biological and environmental causes.
This close relation between programs ensures that the Hereditary Cancer Group provides a fully multidisciplinary approach to hereditary and familial cancer.
At the IMPPC
(+34) 93 554 30 67
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
Yu RC, Pesce CG, Colman-Lerner A, Lok L, Pincus D, Serra E, Holl M, Benjamin K, Gordon A, Brent R. Negative feedback that improves information transmission in yeast signalling. Nature 2008 Dec; 456(7223): 755-61
Colman-Lerner A, Gordon A, Serra E, Chin T, Resnekov O, Endy D, Pesce CG, Brent R. Regulated cell-to-cell variation in a cell-fate decision system. Nature 2005 Sep; 437(7059): 699-706
Serra E, Rosenbaum T, Nadal M, Winner U, Ars E, Estivill X, Lázaro C. Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nat. Genet. 2001 Jul; 28(3): 294-6
Serra E, Rosenbaum T, Winner U, Aledo R, Ars E, Estivill X, Lenard HG, Lázaro C. Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum. Mol. Genet. 2000 Dec; 9(20): 3055-64
Ars E, Serra E, García J, Kruyer H, Gaona A, Lázaro C, Estivill X. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet. 2000 Jan; 9(2): 237-47