{"id":23589,"date":"2023-04-20T10:03:49","date_gmt":"2023-04-20T08:03:49","guid":{"rendered":"https:\/\/idibell.cat\/?p=23589"},"modified":"2023-04-20T10:03:49","modified_gmt":"2023-04-20T08:03:49","slug":"identifiquen-nous-gens-de-predisposicio-a-la-poliposi-colorectal","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2023\/04\/identifiquen-nous-gens-de-predisposicio-a-la-poliposi-colorectal\/","title":{"rendered":"Identifiquen nous gens de predisposici\u00f3 a la poliposi colorectal"},"content":{"rendered":"

Els p\u00f2lips del c\u00f2lon s\u00f3n lesions premalignes, \u00e9s a dir, que en un inici no s\u00f3n perilloses, per\u00f2 en abs\u00e8ncia d’un maneig cl\u00ednic adequat es poden transformar en c\u00e0ncer. Quan el nombre de p\u00f2lips \u00e9s elevat, m\u00e9s gran de 10 o 20, \u00e9s el que anomenem poliposis.<\/p>\n

Ja es coneixien diversos gens de predisposici\u00f3 heredit\u00e0ria a la poliposi colorectal. Tot i aix\u00f2, encara es desconeixen les causes gen\u00e8tiques de gran part dels casos cl\u00ednics. Saber les alteracions gen\u00e8tiques i els riscos associats a cada gen \u00e9s clau per fer un maneig cl\u00ednic adequat en els pacients i els seus familiars.<\/p>\n

El grup de recerca en c\u00e0ncer hereditari de l’IDIBELL i de l’Institut Catal\u00e0 d’Oncologia, liderat per la Dra. Laura Valle, ha realitzat la seq\u00fcenciaci\u00f3 del genoma de 44 pacients amb poliposis colorectal, i ha validat els resultats obtinguts en 200 pacients addicionals afectats per aquesta malaltia. L’objectiu del treball, publicat a la revista Genes and Diseases<\/em>, era identificar mutacions espec\u00edfiques que predisposessin els portadors a desenvolupar poliposis colorectal. Els investigadors han identificat vuit gens que en estar mutats activen la via de senyalitzaci\u00f3 de Wnt i predisposen a desenvolupar poliposis colorectal.<\/p>\n

Si els resultats obtinguts en aquest estudi es validen en altres pacients, els gens identificats s’inclouran en un futur proper al diagn\u00f2stic gen\u00e8tic dels pacients amb poliposis i\/o c\u00e0ncer colorectal. Con\u00e8ixer les alteracions gen\u00e8tiques causants de la predisposici\u00f3 a aquesta malaltia, associada a un risc m\u00e9s gran de c\u00e0ncer colorectal, t\u00e9 importants implicacions per al maneig cl\u00ednic dels portadors ja que es poden aplicar estrat\u00e8gies de prevenci\u00f3 i\/o intensificar el seguiment per prevenir o realitzar un diagn\u00f2stic preco\u00e7 del c\u00e0ncer.<\/p>\n

L’estudi, finan\u00e7at pel Projecte MedPerCan (Medicina Personalitzada en C\u00e0ncer \u2013 Catalunya: Estudi pilot sobre l’impacte de l’an\u00e0lisi gen\u00f2mica en la presa de decisions en oncologia) i l’Ag\u00e8ncia Estatal de Recerca, ha comptat amb la col\u00b7laboraci\u00f3 de membres del Barcelona Supercomputing Center , el CNAG-CRG, i la Xarxa Europea de Refer\u00e8ncia de C\u00e0ncer Hereditari (ERN GENTURIS) a trav\u00e9s de SOLVE-RD (https:\/\/solve-rd.eu\/)<\/a><\/p>\n

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L\u2019Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l’Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l’Institut Catal\u00e0 de la Salut, l’Institut Catal\u00e0 d’Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n

L\u2019IDIBELL \u00e9s membre del Campus d’Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L’any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Un grup de l’IDIBELL, l’Institut Catal\u00e0 d’Oncologia i el CIBERONC ha identificat nous gens de predisposici\u00f3 a diferents tipus de poliposis que, si es confirmessin, podrien determinar el maneig cl\u00ednic dels portadors.<\/p>\n","protected":false},"author":8,"featured_media":23590,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","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":"","ast-breadcrumbs-content":"","ast-featured-img":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[332,417,447],"tags":[],"class_list":["post-23589","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cancer","category-cancer-hereditari-noticies","category-p-de-mecanismes-molelculars-i-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2025-01-29 04:10:34","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23589","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=23589"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23589\/revisions"}],"predecessor-version":[{"id":23591,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23589\/revisions\/23591"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/23590"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=23589"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=23589"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=23589"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}