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

- *Terradas M, *Mur P, *Belhadj S, Woodward ER, Burghel GJ, Munoz-Torres PM, Quintana I, Navarro M, Brunet J, Lázaro C, Pineda M, Moreno V, Capellá G, Evans DGR, Valle L. TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes. Gut 2021; 70(6):1139-1146 IF: 23.059

- Nogué C, Chong AS, Grau E, Han H, Dorca E, Roca C, Mosquera JL, Lázaro C, Foulkes WD, Brunet J, Rivera B. (AC) (11/11). 2021. DGCR8 and the six hit, three-step model of schwannomatosis Acta Neuropathol. ISSN 1432-0533. IF: 18.17

- Rofes P, González S, Navarro M, Moreno Cabrera JM, Solanes A, Darder E, Carrasco E, Iglesias S, Salinas M, Gómez C, Velasco À, Tuset N, Varela M, Llort G, Ramon Cajal YT, Grau È, Dueñas N, de la Ossa Merlano N, Matías Guiu X, Rivera B, Balmaña J, Pineda M, Brunet J, Capellá G, Del Valle J, Lázaro C. Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis. J MOL DIAGN. 2021;23(11):1452-1459. doi:10.1016/j.jmoldx.2021.07.024. IF:5,57.

- Feliubadalo L, Moles Fernandez A, Santamarina Pena M, Sanchez AT, Lopez Novo A, Porras LM, Blanco A, Capella G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz Ponte C, Gutierrez Enriquez S, Vega A, Lazaro C. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. CLIN CHEM. 2021;67(3):518-533. doi:10.1093/clinchem/hvaa250. IF:8,33.
- Dueñas N, Navarro M, Teulé À, Solanes A, Salinas M, Iglesias S, Munté E, Ponce J, Guardiola J, Kreisler E, Carballas E, Cuadrado M, Matias Guiu X, de la Ossa N, Lop J, Lázaro C, Capellá G, Pineda M, Brunet J. Correction: Dueñas et al. Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals. Cancers 2020, 12, 3419. Cancers.

Selected Projects

- Infraestructura de Medicina de Precisión asociada a la Ciencia y Tecnología (IMPaCT) Project number: IMP/00009 (IMPaCT Genómica). PD/PI: A Carracedo (PI). G Capellá (PI WP4 Cancer). Spanish Ministry of Science and Innovation. Instituto de Salud Carlos III. 2021-2023

- USA20002. NF1-Associated Peripheral Nerve Sheath Tumors at Single-Cell Resolution: Heterogeneity, Tumor Growth, and Malignant Progression. (NF200051). DEPARTMENT OF DEFENSE USA. CONGRESSIONALLY DIRECTED MEDICAL RESEARCH PROGRAMS. 2021-2024. IP:LÁZARO GARCIA,CONXI.

- USA20001. Network for Rare Tumors of the Ovary (NRTO). (W81XWH2110954). DEPARTMENT OF DEFENSE USA. CONGRESSIONALLY DIRECTED MEDICAL RESEARCH PROGRAMS; FUNDACIO IDIBELL; MCGILL UNIVERSITY; RESEARCH INSTITUTE-MCGILL UNIVERSITY HEALTH CENTRE. 2021-2024. IP:RIVERA POLO,BARBARA.

- MCI21007. Polymerase proofREADing-deficient tumors: genetics and immune biology insights for improved predictive MEDicine. (PID2020-112595RB-I00). MINISTERIO DE CIENCIA E INNOVACIÓN (MICINN). 2021-2025. IP:VALLE VELASCO,LAURA.

- 21MAR003. Characterizing early events driving carcinogenesis in Constitutional Mismatch Repair Deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention. (202028-30). FUNDACIO IDIBELL; FUNDACION PARA LA INVESTIGACIÓN BIOMÉDICA HOSPITAL UNIVERSITARIO 12 DE OCTUBRE. 2021-2024. IP:PINEDA RIU,MARTA.

PUB21005. Subvencions per a la contractació en pràctiques de persones joves beneficiàries del Programa de Garantia Juvenil a Catalunya. (SOC048/21/000113). SERVEI D´OCUPACIÓ DE CATALUNYA (SOC). 2021-2022. IP:CAPELLA

Technology transfer

Polymorphisms associated with developing colorectal cancer, methods of detection and uses thereof

de la Chapelle, Albert (Autor o Coautor); Tanner, Stefan M. (Autor o Coautor); Valle Velasco, Laura (Autor o Coautor); Pasche, Boris (Autor o Coautor)

VCN Biosciences: Gabriel Capellá is Vice-chair of the Scientific Committee

Capellá Munar, Gabriel (Inventores/autores/obtentores)

Método de diagnóstico de cáncer colorectal. ESP20083127

Azuara Garcia, Daniel (Inventores/autores/obtentores)

Método de diagnóstico de cáncer colorectal. ESP20083127

Capellá Munar, Gabriel (Inventores/autores/obtentores)

Polyhydroxylated compounds as fatty acid synthase (FASN) inhibidors

Brunet Vidal, Joan Maria (Inventores/autores/obtentores)

See full list

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).