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

Nogué C, Chong AS, Grau E, Han H, Dorca E, Roca C, Mosquera JL, Lázaro C, Foulkes WD, Brunet J, Rivera B. DGCR8 and the six hit, three-step model of schwannomatosis. Acta Neuropathol. 2022;143(1):115-117. doi:10.1007/s00401-021-02387-z.

Quintana I, Mur P, Terradas M, Garcia Mulero S, Aiza G, Navarro M, Pinol V, Brunet J, Moreno V, Sanz Pamplona R, Capella G, Valle L. Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer. Cancers. 2022;14(3):doi:10.3390/cancers14030699.

Fernández Rodríguez J, Creus Bachiller E, Zhang X, Martínez Iniesta M, Ortega Bertran S, Guha R, Thomas CJ, Wallace MR, Romagosa C, Salazar Huayna L, Reilly KM, Blakeley JO, Serra Musach J, Pujana MA, Serra E, Villanueva A, Ferrer M, Lázaro C. A high-throughput screening platform identifies novel combination treatments for Malignant Peripheral Nerve Sheath Tumors. Mol. Cancer Ther. 2022;21(7):1246-1258. doi:10.1158/1535-7163.MCT-21-0947.

Morak M, Pineda M, Martins A, Gaildrat P, Tubeuf H, Drouet A, Gómez C, Dámaso E, Schaefer K, Steinke Lange V, Koehler U, Laner A, Hauchard J, Chauris K, Holinski Feder E, Capellá G. Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group. Eur. J. Hum. Genet. 2022;30(9):1051-1059. doi:10.1038/s41431-022-01106-w.

Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B. A decade of RAD51C and RAD51D germline variants in cancer. HUM MUTAT. 2022;43(3):285-298. doi:10.1002/humu.24319.

Selected Projects

MCI21007 . POLYMERASE PROOFREADING-DEFICIENT TUMORS: GENETICS AND IMMUNE BIOLOGY INSIGHTS FOR IMPROVED PREDICTIVE MEDICINE (PROOFREAD4MED. TUMORES DEFICIENTES EN LA CORRECCIÓN DE ERRORES DE LAS POLIMERASAS: PROFUNDIZANDO EN SUS BASES GENÉTICAS Y BIOLOGÍA INMUNE PARA MEJORAR LAS RECOMENDACIONES CLÍNICAS (PROOFREAD4MED). Ministerio de Ciencia e Innovación. Budget: 393250. 2022-2025. PI: Valle Velasco, Laura."

19INT004. The mechanistic basis for constitutional MLH1 methylation (epimutation). NATIONAL INSTITUTES OF HEALTH NIH. Budget: 288872,48. 2019-2023. PI: Capellá Munar, Gabriel.

INT21018. NF1 nonsense suppression by targeted pseudouridylation. GILBERT FAMILY FOUNDATION. Budget: 266523,46. 2022-2024. PI: Lázaro García, Concepción.

USA20001. Network for Rare Tumors of the Ovary (NRTO). DEPARTMENT OF DEFENSE. Budget: 182983,05. 2021-2024. PI: Rivera Polo, Barbara.

21MAR003. Characterizing early events driving carcinogenesis in Constitutional Mismatch Repair Deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention. Fundació La Marató de TV3. Budget: 177754,69. 2021-2024. PI: Pineda Riu, Marta.

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).