Investigadors del grup del Programa de C\u00e0ncer Hereditari de l’Institut Catal\u00e0 d’Oncologia i de l’Institut de Recerca Biom\u00e8dica de Bellvitge (ICO-IDIBELL) liderats per Laura Valle han identificat mutacions causants de c\u00e0ncer colorectal hereditari en el gen FAN1. La troballa qual es publica el mes de setembre a la revista Gastroenterology s’ha realitzat gr\u00e0cies a l’aplicaci\u00f3 de t\u00e8cniques de seq\u00fcenciaci\u00f3 massiva en paral\u00b7lel per estudiar la part codificant del genoma <\/p>\n
L’estudi exhaustiu d’una fam\u00edlia, seguit per l’an\u00e0lisi del gen en una s\u00e8rie de m\u00e9s de 175 fam\u00edlies d’alt risc i l’estudi funcional de les mutacions identificades, han perm\u00e8s demostrar l’associaci\u00f3 causal del gen amb l’agregaci\u00f3 de c\u00e0ncer en les fam\u00edlies portadores de mutaci\u00f3, podent arribar a explicar fins a un 3% de les fam\u00edlies d’alt risc. <\/p>\n
El gen FAN1 codifica una prote\u00efna implicada en la reparaci\u00f3 de l’ADN que forma part de la via molecular de l’An\u00e8mia de Fanconi; una via cl\u00e0ssicament associada a la predisposici\u00f3 al c\u00e0ncer de mama. No obstant aix\u00f2, FAN1 presenta unes caracter\u00edstiques especials que el diferencien d’altres gens d’aquesta via, interaccionant m\u00e9s amb prote\u00efnes del sistema de reparaci\u00f3 de bases desaparllades l’ADN (en angl\u00e8s, mismatch repair), els gens, quan estan mutats, causen c\u00e0ncer colorectal hereditari o s\u00edndrome de Lynch. <\/p>\n
La identificaci\u00f3 de les mutacions causants de la predisposici\u00f3 a desenvolupar c\u00e0ncer en determinades fam\u00edlies ajuda al seu maneig cl\u00ednic i permet la detecci\u00f3 primerenca i fins i tot la prevenci\u00f3 de determinats tipus de tumors en portadors de la mutaci\u00f3 causal. No obstant aix\u00f2, moltes de les fam\u00edlies d’alt risc no presenten mutacions en els gens coneguts, sent per tant essencial identificar altres gens causants d’aquest risc heretable. <\/p>\n
Per desenvolupar aquest estudi, els investigadors del Programa de C\u00e0ncer Hereditari han comptat amb la col\u00b7laboraci\u00f3 d’investigadors del departament de Bioqu\u00edmica i Biologia Molecular de l’Institut Universitari d’Oncologia del Principat d’Ast\u00faries, del grup d’Inestabilitat Gen\u00f2mica i Reparaci\u00f3 del DNA de la Universitat Aut\u00f2noma de Barcelona, \u200b\u200bdel Programa de Biologia Estructural i Biocomputaci\u00f3 del Centre Nacional d’Investigacions Oncol\u00f2giques i d’altres grups de l’Institut de Recerca Biom\u00e8dica de Bellvitge i de l’Institut Catal\u00e0 d’Oncologia. Aix\u00ed mateix, s’ha comptat amb la participaci\u00f3 de diverses unitats i grups de recerca en c\u00e0ncer familiar de tot l’estat. <\/p>\n
El treball s’ha publicat al n\u00famero de setembre de la revista Gastroenterology. La primera autora de l’article, <\/p>\n
N\u00faria Segu\u00ed, ha dissenyat la portada d’aquesta edici\u00f3.<\/p>\n","protected":false},"excerpt":{"rendered":"
Investigadors del grup del Programa de C\u00e0ncer Hereditari de l’Institut Catal\u00e0 d’Oncologia i de l’Institut de Recerca Biom\u00e8dica de Bellvitge (ICO-IDIBELL) liderats per Laura Valle han identificat mutacions causants de c\u00e0ncer colorectal hereditari en el gen FAN1. La troballa qual es publica el mes de setembre a la revista Gastroenterology s’ha realitzat gr\u00e0cies a l’aplicaci\u00f3 […]<\/p>\n","protected":false},"author":6,"featured_media":10863,"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-8099","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar"],"publishpress_future_action":{"enabled":false,"date":"2024-12-30 01:49:26","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\/8099","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=8099"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8099\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10863"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8099"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8099"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8099"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}