{"id":1835,"date":"2019-09-26T01:04:29","date_gmt":"2019-09-25T23:04:29","guid":{"rendered":"https:\/\/idibell.cat\/?page_id=1835"},"modified":"2024-04-11T08:26:39","modified_gmt":"2024-04-11T06:26:39","slug":"hereditary-cancer","status":"publish","type":"page","link":"https:\/\/idibell.cat\/en\/research\/cancer-area\/molecular-mechanisms-and-experimental-therapy-in-oncology-program-oncobell\/hereditary-cancer\/","title":{"rendered":"Hereditary cancer"},"content":{"rendered":"\n

\n\t\tHereditary cancer\n\t<\/h1>\n

\n\t\tSummary\n\t<\/h3>\n\tWe 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.
\nAs 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\n

1243<\/h2>\n

Publications<\/h2>\n\t\t\t\t\"114-cancerhereditari-capella-2def_2\"\n\t\t\t\t\tStrategic lines<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t
    \n
  1. Improvement of genetic testing strategies<\/li>\n
  2. Development of strategies to refine variant classification in hereditary cancer genes<\/li>\n
  3. Personalization of cancer risks, prevention and treatment<\/li>\n
  4. Identification of new genes and mechanisms involved in the predisposition to colorectal cancer and polyposis<\/li>\n
  5. Identification of new genes and mechanisms of rare tumor predisposition syndromes.<\/li>\n
  6. Establishment, optimization, and implementation of state-of-the-art models<\/li>\n
  7. Identification and assessment of novel quantitative (epi)mutational biomarkers in tumors, target tissues and surrogate minimally invasive samples<\/li>\n
  8. Participation and leadership in National and Regional initiatives of genomic-based precision medicine in cancer<\/li>\n
  9. Refinement of therapeutic approaches for Neurofibromatosis type 1<\/li>\n
  10. Development of research resources for patients, health care providers and researchers interested in rare ovarian tumors.<\/li>\n
  11. Refinement of molecular mechanisms of miRNA biogenesis defective tumors.<\/li>\n<\/ol>\n\t\t\t\t\tSelected Publications<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t

    Nogu\u00e9 C, Chong AS, Grau E, Han H, Dorca E, Roca C, Mosquera JL, L\u00e1zaro C, Foulkes WD, Brunet J, Rivera B. DGCR8 and the six hit, three-step model of schwannomatosis<\/strong>. Acta Neuropathol. 2022;143(1):115-117. doi:10.1007\/s00401-021-02387-z.<\/p>\n

    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<\/strong>. Cancers. 2022;14(3):doi:10.3390\/cancers14030699.<\/p>\n

    Fern\u00e1ndez Rodr\u00edguez J, Creus Bachiller E, Zhang X, Mart\u00ednez 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, L\u00e1zaro C. A high-throughput screening platform identifies novel combination treatments for Malignant Peripheral Nerve Sheath Tumors<\/strong>. Mol. Cancer Ther. 2022;21(7):1246-1258. doi:10.1158\/1535-7163.MCT-21-0947.<\/p>\n

    Morak M, Pineda M, Martins A, Gaildrat P, Tubeuf H, Drouet A, G\u00f3mez C, D\u00e1maso E, Schaefer K, Steinke Lange V, Koehler U, Laner A, Hauchard J, Chauris K, Holinski Feder E, Capell\u00e1 G. Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group<\/strong>. Eur. J. Hum. Genet. 2022;30(9):1051-1059. doi:10.1038\/s41431-022-01106-w.<\/p>\n

    Boni J, Idani A, Roca C, Feliubadal\u00f3 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<\/strong>. HUM MUTAT. 2022;43(3):285-298. doi:10.1002\/humu.24319.<\/p>\n\t\t\t\t\tSelected Projects<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t

    MCI21007 . POLYMERASE PROOFREADING-DEFICIENT TUMORS: GENETICS AND IMMUNE BIOLOGY INSIGHTS FOR IMPROVED PREDICTIVE MEDICINE (PROOFREAD4MED. <\/strong>TUMORES DEFICIENTES EN LA CORRECCI\u00d3N DE ERRORES DE LAS POLIMERASAS: PROFUNDIZANDO EN SUS BASES GEN\u00c9TICAS Y BIOLOG\u00cdA INMUNE PARA MEJORAR LAS RECOMENDACIONES CL\u00cdNICAS (PROOFREAD4MED). Ministerio de Ciencia e Innovaci\u00f3n. Budget: 393250. 2022-2025. PI: Valle Velasco, Laura.”<\/p>\n

    19INT004. The mechanistic basis for constitutional MLH1 methylation (epimutation). <\/strong>NATIONAL INSTITUTES OF HEALTH NIH. Budget: 288872,48. 2019-2023. PI: Capell\u00e1 Munar, Gabriel.<\/p>\n

    INT21018. NF1 nonsense suppression by targeted pseudouridylation<\/strong>. GILBERT FAMILY FOUNDATION. Budget: 266523,46. 2022-2024. PI: L\u00e1zaro Garc\u00eda, Concepci\u00f3n.<\/p>\n

    USA20001. Network for Rare Tumors of the Ovary (NRTO). <\/strong>DEPARTMENT OF DEFENSE. Budget: 182983,05. 2021-2024. PI: Rivera Polo, Barbara.<\/p>\n

    21MAR003. Characterizing early events driving carcinogenesis in Constitutional Mismatch Repair Deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention<\/strong>. Fundaci\u00f3 La Marat\u00f3 de TV3. Budget: 177754,69. 2021-2024. PI: Pineda Riu, Marta.<\/p>\n\t\t\t\t\tMore Information<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t

    Proyectos financiados por el Instituto de Salud Carlos III (ISCIII) y cofinanciados por el Fondo Europeo de Desarrollo Regional (FEDER):<\/i><\/p>\n

     <\/p>\n

    Desarrollo de estrategias terap\u00e9uticas personalizadas para los tumores malignos de las vainas de los nervios perif\u00e9ricos: modelos in vivo y farmacogen\u00f3mica<\/b><\/p>\n

    PI13\/00285. 01\/2014-06\/2017. 95.500 \u20ac. IP: Concepci\u00f3n L\u00e1zaro Garc\u00eda.<\/p>\n

    Establecimiento de una plataforma de ensayos terap\u00e9uticos personalizados in vitro e in vivo para los tumores malignos de las vainas de los nervios perif\u00e9ricos (MPNST) e Identificaci\u00f3n de agentes terap\u00e9uticos personalizados para estos tumores hasta llegar a nivel precl\u00ednico. Se prevee que el an\u00e1lisis integrativo de los datos tanto farmacogen\u00f3micos constitucionales como gen\u00f3micos, 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.<\/p>\n

    \"\"<\/p>\n

     <\/p>\n

    Desarrollo de un sistema no invasivo para el cribado de c\u00e1ncer colorrectal basado en marcadores bacterianos en heces<\/strong><\/p>\nPI: Capell\u00e1 Munar, Gabriel
    \nConvocatoria Retos Colaboraci\u00f3n, expediente: RTC-2016-5017-1
    \nCoordinador: GOODGUT SOCIETAT LIMITADA
    \nMinisterio de Ciencia, Innovaci\u00f3n y Universidades, perteneciente a la Agencia Estatal de Investigaci\u00f3n (AEI).\n

    Cofinanciado por el Fondo Europeo de Desarrollo Regional. FEDER, una manera de hacer Europa. Promover el desarrollo tecnol\u00f3gico, la innovaci\u00f3n y una investigaci\u00f3n de calidad).<\/p>\n\"\"
    \n\"\"\n\t\t\t\t\"Gabriel-Capell\u00e122\"\n

    \n\t\tCapell\u00e1 Munar, Gabriel\n\t<\/h4>\n

    \n\t\t\n\t\tgcapella@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t\"Conxi-Lazaro-Garcia21\"\n

    \n\t\tLazaro Garcia, Conxi\n\t<\/h4>\n

    \n\t\t\n\t\tclazaro@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n

    \n\t\tPrincipal investigators\n\t<\/h2>\n\t\t\t\t\"Gabriel-Capell\u00e122\"\n

    \n\t\tCapell\u00e1 Munar, Gabriel\n\t<\/h4>\n

    \n\t\t\n\t\tgcapella@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t\"Joan-Maria-Brunet-Vidal21\"\n

    \n\t\tBrunet Vidal, Joan Mar\u00eda\n\t<\/h4>\n

    \n\t\t\n\t\tjbrunet@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t\"Conxi-Lazaro-Garcia21\"\n

    \n\t\tLazaro Garcia, Conxi\n\t<\/h4>\n

    \n\t\t\n\t\tclazaro@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t\"Barbara-Rivera-Polo21\"\n

    \n\t\tRivera Polo, Barbara\n\t<\/h4>\n

    \n\t\t\n\t\tbrivera@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t\"Marta-Pineda22\"\n

    \n\t\tPineda Riu, Marta\n\t<\/h4>\n

    \n\t\t\n\t\tmpinedar@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t\"Laura-Valle-Velasco21\"\n

    \n\t\tValle Velasco, Laura\n\t<\/h4>\n

    \n\t\t\n\t\tlvalle@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n

    \n\t\tRELATED LINKS\n\t<\/h4>\n

    \n\t\t\n\t\thereditarycancergroup.com\n\t\t<\/a>\n\t<\/h4>\n

    \n\t\t\n\t\tProspective Lynch Syndrome Database (PLSD)\n\t\t<\/a>\n\t<\/h4>\n

    \n\t\t\n\t\t@BRivera_Polo\n\t\t<\/a>\n\t<\/h4>\n

    \n\t\t\n\t\t@BrunetJbrunet\n\t\t<\/a>\n\t<\/h4>\n

    \n\t\t\n\t\t@LValleResearch\n\t\t<\/a>\n\t<\/h4>\n

    \n\t\tTeam\n\t<\/h2>\n\t\t\t\t\t\t\t\t\t\t\t\tGroup leaders\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tPrincipal investigators\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tClinical researchers\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tPostdoctoral researchers\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tPredoctoral researchers\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tScientific support\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tAdministrative support\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tStudents\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tCollaborators\t\t\t\t<\/a>\n\t\t\t\t\t\tGroup leaders\n\t\t\t\t\t\t\t\t\t\t\t