Investigadors del grup de C\u00e0ncer Hereditari del programa Oncobell de l’Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) – Programa de C\u00e0ncer Hereditari de l’Institut Catal\u00e0 d’Oncologia (ICO) han trobat un nou marcador gen\u00e8tic que explicaria fins a 1,4% dels casos de c\u00e0ncer de c\u00f2lon hereditari que no posseeixen les mutacions actualment associades a aquesta malaltia. La troballa, possible gr\u00e0cies a les noves t\u00e8cniques de seq\u00fcenciaci\u00f3 gen\u00e8tica, ha comptat amb la col\u00b7laboraci\u00f3 de grups de recerca a nivell nacional i internacional. <\/p>\n
“El nostre grup es dedica principalment a cercar marcadors gen\u00e8tics de c\u00e0ncer de c\u00f2lon hereditari”, explica la Dra. Laura Valle, l\u00edder de l’estudi. “En els darrers anys, hem seq\u00fcenciat el exoma – tots els gens – de fam\u00edlies d’alt risc, amb diversos membres afectats per c\u00e0ncer de c\u00f2lon, per\u00f2 que no posseeixen les mutacions gen\u00e8tiques actualment associades amb aquesta malaltia. La finalitat \u00e9s identificar els gens alterats que causen l’agregaci\u00f3 de c\u00e0ncer en aquestes fam\u00edlies. D’aquesta manera, els portadors de la mutaci\u00f3 podran entrar en programes de seguiment personalitzats per detectar preco\u00e7ment l’aparici\u00f3 del c\u00e0ncer, i fins i tot prevenir-lo.” <\/p>\n
En el cas del treball publicat per la revista Gastroenterology<\/em>, els investigadors van singularitzar al gen BRF1 com a gen de c\u00e0ncer de c\u00f2lon familiar. “Aquest gen s’ha vist mutat en tumors, per\u00f2 mai s’havia associat a risc de patir c\u00e0ncer”, comenta la Dra. Valle. La seq\u00fcenciaci\u00f3 d’aquest gen en m\u00e9s de 500 mostres provinents de fam\u00edlies amb agregaci\u00f3 familiar de c\u00e0ncer sense alteracions en gens d’alt risc habituals ha rebel\u00b7lat 11 variants noves i poc freq\u00fcents del gen. Despr\u00e9s de diversos estudis funcionals, els investigadors van concloure que 7 de les 11 variants podien relacionar-se amb el risc incrementat de desenvolupar c\u00e0ncer en les fam\u00edlies portadores. <\/p>\n Aix\u00ed doncs, 1,4% dels casos de c\u00e0ncer de c\u00f2lon hereditari podrien explicar-se per alteracions en el gen BRF1. “\u00c9s un percentatge baix”, admet la investigadora de l’IDIBELL, “per\u00f2 hem arribat a un punt en que els “grans gens” responsables del c\u00e0ncer hereditari ja han estat descoberts. Nom\u00e9s ens queden “gens minoritaris” per desvetllar, per\u00f2 evidentment l’impacte per als afectats \u00e9s enorme”. <\/p>\n La troballa, un cop validada per altres grups de recerca, podria permetre als pacients amb mutacions en aquest gen fer un seguiment cl\u00ednic molt m\u00e9s coherent amb la seva gen\u00e8tica. “En aquesta l\u00ednia, seguim treballant en la identificaci\u00f3 de mutacions gen\u00e8tiques i altres tipus d’alteracions no tan convencionals que ens permetin explicar el major nombre de casos de c\u00e0ncer hereditari possible”, conclou Valle.<\/p>\n","protected":false},"excerpt":{"rendered":" Investigadors del grup de C\u00e0ncer Hereditari del programa Oncobell de l’Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) – Programa de C\u00e0ncer Hereditari de l’Institut Catal\u00e0 d’Oncologia (ICO) han trobat un nou marcador gen\u00e8tic que explicaria fins a 1,4% dels casos de c\u00e0ncer de c\u00f2lon hereditari que no posseeixen les mutacions actualment associades a aquesta malaltia. La […]<\/p>\n","protected":false},"author":6,"featured_media":10639,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","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":"","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":[1],"tags":[],"class_list":["post-7750","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar"],"publishpress_future_action":{"enabled":false,"date":"2024-12-30 06:36:18","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\/7750","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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=7750"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7750\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10639"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=7750"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=7750"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=7750"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}