En un 10% dels tumors humans existeix una hist\u00f2ria familiar de la malaltia associada a mutacions heredit\u00e0ries en gens identificats. Els majors exemples s\u00f3n els casos de poliposi a l’intest\u00ed gros associats al gen APC i els de c\u00e0ncer de mama associat als gens BRCA1 i BRCA2. En el 90% de casos restants es creu que hi ha un major risc de desenvolupar un c\u00e0ncer en relaci\u00f3 a variants gen\u00e8tiques de menor pot\u00e8ncia per\u00f2 major freq\u00fc\u00e8ncia, que per exemple, doblen el risc de tenir el tumor respecte a una persona que no posseeix aquest petit canvi, denominat polimorfisme.<\/p>\n
En l’\u00faltima d\u00e8cada s’han realitzat centenars d’estudis buscant polimorfismes associats a una major propensi\u00f3 a patir algun dels tumors humans m\u00e9s freq\u00fcents. Aquestes an\u00e0lisis, anomenats GWAS, han trobat un problema freq\u00fcent: moltes vegades el diminut canvi gen\u00e8tic observat no sembla tenir cap activitat o funci\u00f3 que expliqui perqu\u00e8 s’associa a m\u00e9s c\u00e0ncer .<\/p>\n
Avui, un article publicat a Cell Reports dirigit per Manel Esteller, Director del Programa d’Epigen\u00e8tica i Biologia del C\u00e0ncer de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), Investigador ICREA i professor de Gen\u00e8tica de la Universitat de Barcelona, resol en part aquest enigma. La investigaci\u00f3 demostra que en un de cada quatre tumors humans l’exist\u00e8ncia de polimorfismes gen\u00e8tics associats a un major risc de c\u00e0ncer causen un canvi epigen\u00e8tic que modifica l’expressi\u00f3 dels gens adjacents.<\/p>\n
“El treball representa un esfor\u00e7 herculi d’analitzar bioinform\u00e0ticament molt\u00edssima informaci\u00f3 biol\u00f2gica. Per ser exactes hem estudiat un mili\u00f3 de canvis gen\u00e8tics en relaci\u00f3 a mig mili\u00f3 de canvis epigen\u00e8tics en 3.500 tumors que representen els tretze c\u00e0ncers m\u00e9s comuns, entre ells el c\u00e0ncer de mama, pulm\u00f3 i c\u00f2lon” comenta Manel Esteller .<\/p>\n
“Hem observat en un 25% de casos polimorfismes gen\u00e8tics associats a un increment del c\u00e0ncer, per\u00f2 que no alteraven directament el gen, el que provocaven era un canvi de metilaci\u00f3 de l’ADN; \u00e9s a dir apagaven el gen sense trencar-lo. Aquests resultats permeten afegir els canvis epigen\u00e8tics com a un altre factor clau a considerar en l’her\u00e8ncia del c\u00e0ncer i la contribuci\u00f3 del component familiar a la malaltia” conclou Esteller.<\/p>\n
Heyn H, Sayols S, Moutinho C, Vidal E, Sanchez-Mut JV, Stefansson OA, Nadal E, Moran S, Eyfjord JE, Gonzalez-Suarez E, Pujana MA, Esteller M. Linkage of DNA Methylation Quantitative Trait Loci to Human Cancer Risk. Cell Reports<\/em>, DOI: 10.1016\/j.celrep.2014.03.016, 2014.<\/p>\n","protected":false},"excerpt":{"rendered":" La investigaci\u00f3 demostra que en un de cada quatre tumors humans l’exist\u00e8ncia de polimorfismes gen\u00e8tics associats a un major risc de c\u00e0ncer causen un canvi epigen\u00e8tic que modifica l’expressi\u00f3 dels gens adjacents.<\/p>\n","protected":false},"author":6,"featured_media":19453,"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-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":""},"categories":[1],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-12 15:50:19","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8386"}],"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=8386"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8386\/revisions"}],"predecessor-version":[{"id":19450,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8386\/revisions\/19450"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/19453"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8386"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8386"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8386"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}