{"id":8033,"date":"2015-12-14T00:00:00","date_gmt":"2015-12-13T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2015\/12\/14\/un-10-dels-tumors-de-colon-esporadics-presenten-mutacions-en-el-gen-amer1\/"},"modified":"2020-05-13T19:47:23","modified_gmt":"2020-05-13T17:47:23","slug":"un-10-dels-tumors-de-colon-esporadics-presenten-mutacions-en-el-gen-amer1","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2015\/12\/un-10-dels-tumors-de-colon-esporadics-presenten-mutacions-en-el-gen-amer1\/","title":{"rendered":"Un 10% dels tumors de c\u00f2lon espor\u00e0dics presenten mutacions en el gen AMER1"},"content":{"rendered":"

Investigadors del grup de C\u00e0ncer Colorectal del Programa de Prevenci\u00f3 i Control del C\u00e0ncer de l’Institut Catal\u00e0 d’Oncologia i de l’Institut de Recerca Biom\u00e8dica de Bellvitge (ICO-IDIBELL), liderats per V\u00edctor Moreno han identificat mutacions en el gen AMER1, en aproximadament un 10% dels tumors de c\u00f2lon analitzats. <\/p>\n

Amb l’objectiu de caracteritzar el conjunt de mutacions que acumula un tumor es va seq\u00fcenciar el exoma (la part codificant del genoma) de 42 mostres provinents de pacients amb c\u00e0ncer de c\u00f2lon mitjan\u00e7ant t\u00e8cniques d’ultraseq\u00fcenciaci\u00f3 (next generation sequencing). Com a resultat, es va observar una elevada heterogene\u00eftat entre pacients; mostrant cada un d’ells un patr\u00f3 mutacional caracter\u00edstic. No obstant aix\u00f2, al voltant d’un 10% dels tumors analitzats presentava mutacions en el gen AMER1. La majoria d’aquestes mutacions generen un stop codon<\/em> (o cod\u00f3 de terminaci\u00f3), el que porta a la generaci\u00f3 d’una prote\u00efna truncada i generalment no funcional. Aquest resultat es va validar en una s\u00e8rie addicional de 553 tumors de c\u00f2lon. <\/p>\n

AMER1 \u00e9s un gen situat en el cromosoma X que codifica per a una prote\u00efna de membrana altament conservada que ajuda a la degradaci\u00f3 de beta-catenina i que per tant t\u00e9 un paper regulador en la via de Wnt. A m\u00e9s, AMER1 ajuda a mantenir la integritat cel\u00b7lular ja que mant\u00e9 la localitzaci\u00f3 en membrana del gen APC. Per tant, la p\u00e8rdua d’aquest gen podria estar relacionada amb el proc\u00e9s tumoral a trav\u00e9s de la p\u00e8rdua de regulaci\u00f3 d’aquestes funcions. \u00c9s interessant destacar que a l’estar localitzat en el cromosoma X, la p\u00e8rdua d’un sol al\u00b7lel en el cas dels homes inactiva totalment al gen. <\/p>\n

A m\u00e9s, pr\u00e8viament el grup havia caracteritzat els tumors estudiats a nivell d’expressi\u00f3 de RNA, metilaci\u00f3 i variaci\u00f3 en el nombre de c\u00f2pies de DNA (per a m\u00e9s informaci\u00f3 es pot visitar la p\u00e0gina web www.colonomics.org<\/a>). Encara que en una proporci\u00f3 menor, es van trobar tumors que havien perdut l’expressi\u00f3 del gen AMER1 mitjan\u00e7ant mecanismes de metilaci\u00f3 i de p\u00e8rdua de tot un bra\u00e7 cromos\u00f2mic. Aix\u00ed mateix, l’an\u00e0lisi de les dades d’expressi\u00f3 g\u00e8nica que ha perm\u00e8s caracteritzar fenot\u00edpicament les mostres estudiades suggereix que els tumors que perden expressi\u00f3 d’AMER1 pateixen una inactivaci\u00f3 de la via de Wnt. Aquesta troballa obre una via per seguir investigant el paper de AMER1 com a gen supressor tumoral en c\u00e0ncer de c\u00f2lon espor\u00e0dic. <\/p>\n

En aquest estudi han participat investigadors de l’IDIBELL, l’ICO i del CNAG (Centre Nacional d’An\u00e0lisi Gen\u00f2mica), on es va dur a terme la seq\u00fcenciaci\u00f3 dels tumors i ha estat publicat a la revista Clinical Cancer Research. <\/p>\n

Sanz-Pamplona R, Lopez-Doriga A, Par\u00e9-Brunet L, L\u00e1zaro K, Bellido F, Alonso MH, Auss\u00f3 S, Guin\u00f3 E, Beltr\u00e1n S, Castro-Giner F, Gut M, Sanjuan X, Closa A, Cordero D, Mor\u00f3n-Duran FD, Soriano A, Salazar R, Valle L, Moreno V. Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer. <\/strong>Clinical Cancer Research<\/strong> 2015; 21(20):4709-18. doi: 10.1158\/1078-0432.CCR-15-0159<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"

Sanz-Pamplona R, Lopez-Doriga A, Par\u00e9-Brunet L, L\u00e1zaro K, Bellido F, Alonso MH, Auss\u00f3 S, Guin\u00f3 E, Beltr\u00e1n S, Castro-Giner F, Gut M, Sanjuan X, Closa A, Cordero D, Mor\u00f3n-Duran FD, Soriano A, Salazar R, Valle L, Moreno V. Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer. Clinical Cancer Research 2015; 21(20):4709-18. doi: 10.1158\/1078-0432.CCR-15-0159<\/p>\n","protected":false},"author":6,"featured_media":10822,"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":"2024-05-15 18:51:47","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8033"}],"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=8033"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8033\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10822"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8033"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8033"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8033"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}