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

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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

Garcia Pelaez,J;Barbosa Matos,R;Lobo,S;Dias,A;Garrido,L;Castedo,S;Sousa,S et al, Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes, Lancet Oncol., 2023;24(1):91-106, doi:10.1016/S1470-2045(22)00643-X
Tagliamento,M;Gennari,A;Lambertini,M;Salazar,R;Harbeck,N;Del Mastro,L;Aguilar Company,J et al, Pandemic Phase-Adjusted Analysis of COVID-19 Outcomes Reveals Reduced Intrinsic Vulnerability and Substantial Vaccine Protection From Severe Acute Respiratory Syndrome Coronavirus 2 in Patients With Breast Cancer, J. Clin. Oncol., 2023;41(15):2800-2814, doi:10.1200/JCO.22.01667
VALLE,L;Monahan,KJ, Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management., Lancet Gastroenterol. Hepatol., 2023;9(1):68-82, doi:10.1016/S2468-1253(23)00240-6
Tricarico,R;Madzo,J;Scher,G;Cohen,M;Jelinek,J;Maegawa,S;Nagarathinam,R et al, TET1 and TDG Suppress Inflammatory Response in Intestinal Tumorigenesis: Implications for Colorectal Tumors With the CpG Island Methylator Phenotype, Gastroenterology, 2023;164(6):doi:10.1053/j.gastro.2023.01.039
Capdevila,J;Hernando,J;Teule,A;Lopez,C;Garcia Carbonero,R;Benavent,M;Custodio,A et al, Durvalumab plus tremelimumab for the treatment of advanced neuroendocrine neoplasms of gastroenteropancreatic and lung origin, Nat. Commun., 2023;14(1):2973-2973, doi:10.1038/s41467-023-38611-5

Selected Projects

FIS22096. Genómica funcional: desarrollo e implementación de una plataforma para el estudio de casos de cáncer hereditario sin resolver. Instituto de Salud Carlos III (ISCIII). Budget: 3.179.990€. 2023-2025. PI: LAZARO GARCIA, CONCEPCION.
MCI21007. Polymerase proofREADing-deficient tumors: genetics and immune biology insights for improved predictive MEDicine. Ministerio de Ciencia e Innovación. Budget: 393.250€. 2021-2025. PI: VALLE VELASCO, LAURA.
20MEC021. Modelando el precancer en la deficiencia reparadora de apareamientos erróneos germinal para un seguimiento personalizado basado en la respuesta immune. Ministerio de Ciencia e Innovación. Budget: 338.800€. 2020-2024. PI: Capellá Munar, Gabriel; Marta Pineda.
AEC23003. 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.
19INT004. The mechanistic basis for constitutional MLH1 methylation (epimutation). NATIONAL INSTITUTES OF HEALTH NIH. Budget: 288872,48. 2019-2024. 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).