{"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
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 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 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 […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":448,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"publishpress_future_action":{"enabled":false,"date":"2024-05-12 15:40:42","action":"change-status","newStatus":"draft","terms":[],"taxonomy":""},"_links":{"self":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/1835"}],"collection":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/comments?post=1835"}],"version-history":[{"count":7,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/1835\/revisions"}],"predecessor-version":[{"id":23901,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/1835\/revisions\/23901"}],"up":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/448"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=1835"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\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
\n\n\t\t\t\t\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\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\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\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\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\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\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\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
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\n\t\tRelated news\n\t<\/h2>\n\t\t\n\t\t\t\t<\/a>\n\t\t\tThe Spanish Association Against Cancer in Barcelona finances two IDIBELL projects with 445,000 euros<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t07\/03\/2024\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tScientists find how to define targeted therapies in lung cancer thanks to a genetic sequencing platform<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t04\/01\/2024\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tA study by IDIBELL, ICO and IGTP puts precision medicine at the service of nerve tumors<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t23\/11\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tNew recommendations for the classification of variants in the POLE and POLD1 genes to improve diagnostic accuracy in hereditary cancer<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t25\/10\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\t3.2 million euros to identify new genetic variants responsible for hereditary cancers<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t30\/06\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tDNA microsatellites instability, a possible predictor of endometrial cancer<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t16\/05\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tResearchers identify new genes predisposing to colorectal polyposis<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t20\/04\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tA bioinformatics program will accelerate the diagnosis of hereditary cancer<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t03\/04\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tTwo IDIBELL teams are granted two research projects on personalized medicine<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t08\/02\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tIn vitro and in vivo assays identifies a combination of two drugs that have the potential to improve the treatment of MPNST<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t01\/06\/2022\t\t\t\t\t\t\t\n\t\t\n\n","protected":false},"excerpt":{"rendered":"