Hereditary cancer

Summary

We are a multidisciplinary research group working on Hereditary Cancer at the Catalan Institute of Oncology, Bellvitge Biomedical Research Institute (IDIBELL) and the Institute for Health Science Research Germans Trias i Pujol (IGTP). Our work, whether clinical- or research-oriented, is focused on the improvement of healthcare of patients with a personal or a family history of cancer.
As may be observed in the Research Lines section, the overarching goal of our research activity is to gain insight into the molecular bases of hereditary cancer -with a particular interest in gastrointestinal cancer, Hereditary Breast and Ovarian Cancer and Rare Tumor predisposing syndromes – in order to personalize risk assessment for patients and relatives, as well as to individualize management regarding follow-up, treatment, and prophylactic and preventive measures. The group participates in international and national initiatives aimed to improve variant classification in hereditary cancer genes, define clinical guidelines for hereditary cancer patients, and implement genomic-based personalized medicine in the National Health System

1243

Publications

Strategic lines

Improvement of genetic testing strategies
Development of strategies to refine variant classification in hereditary cancer genes
Personalization of cancer risks, prevention and treatment
Identification of new genes and mechanisms involved in the predisposition to colorectal cancer and polyposis
Identification of new genes and mechanisms of rare tumor predisposition syndromes.
Establishment, optimization, and implementation of state-of-the-art models
Identification and assessment of novel quantitative (epi)mutational biomarkers in tumors, target tissues and surrogate minimally invasive samples
Participation and leadership in National and Regional initiatives of genomic-based precision medicine in cancer
Refinement of therapeutic approaches for Neurofibromatosis type 1
Development of research resources for patients, health care providers and researchers interested in rare ovarian tumors.
Refinement of molecular mechanisms of miRNA biogenesis defective tumors.

Selected Publications

Ortega Bertran,S;Fernández Rodríguez,J;Magallón Lorenz,M;Zhang,X;Creus Bachiller,E;Diazgranados,AP;Uriarte Arrazola,I et al, Triple Combination of MEK, BET, and CDK Inhibitors Significantly Reduces Human Malignant Peripheral Nerve Sheath Tumors in Mouse Models., Clin. Cancer Res., 2024;31(5):907-920, doi:10.1158/1078-0432.CCR-24-2807
Marín,F;Canet Hermida,J;Bianchi,V;Chung,JL;Wimmer,K;Foulkes,W;Pérez Alonso,V et al, A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency, Clin Chem, 2024;70(5):737-746, doi:10.1093/clinchem/hvae027
Gonzalez Abuin,N;Pons,T;Fuster,T;Quintana,I;Terradas,M;Aiza,G;Brunet,J et al, Lack of evidence for germline WWP1pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome, Genes Dis., 2024;11(2):524-527, doi:10.1016/j.gendis.2023.03.011
Munté,E;Roca,C;Del Valle,J;Feliubadaló,L;Pineda,M;Gel,B;Castellanos,E et al, Detection of germline CNVs from gene panel data: benchmarking the state of the art, Brief. Bioinform., 2024;26(1):doi:10.1093/bib/bbae645
Moreno Cabrera,JM;Feliubadaló,L;Pineda,M;Prada Dacasa,P;Ramos Muntada,M;Del Valle,J;Brunet,J et al, SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population, Database, 2024;2024doi:10.1093/database/baae055

Selected Projects

PID2023-151585OB-I00. Cáncer endometrial y pancreático en síndrome de Lynch: retos más allá del riesgo de cáncer colorectal. Ministerio de Ciencia e Innovación. Budget: 387.500€. 2025-2028. PI: Pineda Riu, Marta/Capellá Munar, Gabriel.
PID2020-112595RB-I00/PID2023-151585OB-I00. Polymerase proofREADing-deficient tumors: genetics and immune biology insights for improved predictive MEDicine. Ministerio de Ciencia e Innovación. Budget: 780.750€. 2022-2026. PI: VALLE VELASCO, LAURA.
LABAE235269RIVE. DELINEATING THE INVOLVEMENT OF miRNA BIOGENESIS GENES IN TUMOR DEVELOPMENT (miRNAtude). Asociación Española Contra el Cáncer (AECC). Budget: 300.000€. 2023-2026. PI: RIVERA POLO, BARBARA.
PI23/00017. Evaluación de la VIabilidad y coste-efectividad de un cribado de Variantes constitucionales EN una cohorte prospectiva de pacientes con CÁNcer (VIVEN-CAN). Instituto de Salud Carlos III (ISCIII). Budget: 227.500€. 2024-2026. PI: LAZARO GARCIA, CONCEPCION.
MAR24002. Personalized prevention of endometrial cancer in Lynch syndrome: empowering women in the decision of risk reducing surgery.. Fundació La Marató de TV3. Budget: 149.998,83€. 2025-2028. PI: Capellá Munar, Gabriel.

More Information

Proyectos financiados por el Instituto de Salud Carlos III (ISCIII) y cofinanciados por el Fondo Europeo de Desarrollo Regional (FEDER):

Desarrollo de estrategias terapéuticas personalizadas para los tumores malignos de las vainas de los nervios periféricos: modelos in vivo y farmacogenómica

PI13/00285. 01/2014-06/2017. 95.500 €. IP: Concepción Lázaro García.

Establecimiento de una plataforma de ensayos terapéuticos personalizados in vitro e in vivo para los tumores malignos de las vainas de los nervios periféricos (MPNST) e Identificación de agentes terapéuticos personalizados para estos tumores hasta llegar a nivel preclínico. Se prevee que el análisis integrativo de los datos tanto farmacogenómicos constitucionales como genómicos, juntamente con los datos de respuesta a los diferentes tratamientos in vitro e in vivo, ha de permitir disponer de una mejor capacidad predictiva de respuesta utilizando tratamientos personalizados en nuevos casos de MPNST.

Desarrollo de un sistema no invasivo para el cribado de cáncer colorrectal basado en marcadores bacterianos en heces

PI: Capellá Munar, Gabriel
Convocatoria Retos Colaboración, expediente: RTC-2016-5017-1
Coordinador: GOODGUT SOCIETAT LIMITADA
Ministerio de Ciencia, Innovación y Universidades, perteneciente a la Agencia Estatal de Investigación (AEI).

Cofinanciado por el Fondo Europeo de Desarrollo Regional. FEDER, una manera de hacer Europa. Promover el desarrollo tecnológico, la innovación y una investigación de calidad).