{"id":10661,"date":"2015-12-14T00:00:00","date_gmt":"2015-12-13T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/es\/blog\/2015\/12\/14\/un-10-de-los-tumores-de-colon-esporadicos-presentan-mutaciones-en-el-gen-amer1\/"},"modified":"2020-05-20T13:46:05","modified_gmt":"2020-05-20T11:46:05","slug":"un-10-de-los-tumores-de-colon-esporadicos-presentan-mutaciones-en-el-gen-amer1","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2015\/12\/un-10-de-los-tumores-de-colon-esporadicos-presentan-mutaciones-en-el-gen-amer1\/","title":{"rendered":"Un 10% de los tumores de colon espor\u00e1dicos presentan mutaciones en el gen AMER1"},"content":{"rendered":"<p>Investigadores del grupo de C\u00e1ncer Colorrectal del Programa de Prevenci\u00f3n y Control <br \/> del C\u00e1ncer del Instituto Catal\u00e1n de Oncolog\u00eda y del Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (ICO-IDIBELL), liderados por V\u00edctor Moreno han identificado mutaciones en el gen <em>AMER1<\/em>, en aproximadamente un 10% de los tumores de colon analizados. <b><br \/> Con el objetivo de caracterizar el conjunto de mutaciones que acumula un tumor se secuenci\u00f3 el exoma (la parte codificante del genoma) de 42 muestras provenientes de pacientes con c\u00e1ncer de colon mediante t\u00e9cnicas de ultrasecuenciaci\u00f3n (next generation sequencing). Como resultado, se observ\u00f3 una elevada heterogeneidad entre pacientes; mostrando cada uno de ellos un patr\u00f3n mutacional caracter\u00edstico. Sin embargo, alrededor de un 10% de los tumores analizados presentaba mutaciones en el gen <em>AMER1<\/em>. La mayor\u00eda de dichas mutaciones generan un <em>stop codon<\/em> (o cod\u00f3n de terminaci\u00f3n), lo que lleva a la generaci\u00f3n de una prote\u00edna truncada y generalmente no funcional. Este resultado se valid\u00f3 en una serie adicional de 553 tumores de colon. <b><br \/> <em>AMER1<\/em> es un gen situado en el cromosoma X que codifica para una prote\u00edna de membrana altamente conservada que ayuda a la degradaci\u00f3n de beta-catenina y que por lo tanto tiene un papel regulador en la v\u00eda de Wnt. Adem\u00e1s, <em>AMER1<\/em> ayuda a mantener la integridad celular ya que mantiene la localizaci\u00f3n en membrana del gen <em>APC<\/em>. Por lo tanto, la p\u00e9rdida de dicho gen podr\u00eda estar relacionada con el proceso tumoral a trav\u00e9s de la p\u00e9rdida de regulaci\u00f3n de estas funciones. Es interesante destacar que al estar localizado en el cromosoma X, la p\u00e9rdida de un solo alelo en el caso de los hombres inactiva totalmente al gen. <b><br \/> Adem\u00e1s, previamente el grupo hab\u00eda caracterizado los tumores estudiados a nivel de expresi\u00f3n de RNA, metilaci\u00f3n y variaci\u00f3n en el n\u00famero de copias de DNA (para m\u00e1s informaci\u00f3n puede visitarse la p\u00e1gina web <a href=\"http:\/\/www.colonomics.org\">www.colonomics.org<\/a>). Aunque en una proporci\u00f3n menor, se encontraron tumores que hab\u00edan perdido la expresi\u00f3n del gen <em>AMER1<\/em> mediante mecanismos de metilaci\u00f3n y de p\u00e9rdida de todo un brazo cromos\u00f3mico. Asimismo, el an\u00e1lisis de los datos de expresi\u00f3n g\u00e9nica que ha permitido caracterizar fenot\u00edpicamente las muestras estudiadas sugiere que los tumores que pierden expresi\u00f3n de <em>AMER1<\/em> sufren una inactivaci\u00f3n de la v\u00eda de Wnt. Este hallazgo abre una v\u00eda para seguir investigando el papel de <em>AMER1<\/em> como gen supresor tumoral en c\u00e1ncer de colon espor\u00e1dico. <b><br \/> En este estudio han participado investigadores del IDIBELL, del ICO y del CNAG (Centre Nacional d\u2019An\u00e0lisi Gen\u00f2mica), donde se llev\u00f3 a cabo la secuenciaci\u00f3n de los tumores y ha sido publicado en la revista Clinical Cancer Research. <b><br \/> <strong>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><strong>Clinical Cancer Research<\/strong><strong> 2015; 21(20):4709-18. doi: 10.1158\/1078-0432.CCR-15-0159<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>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":10662,"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":[184,296,281],"tags":[],"class_list":["post-10661","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-cancer","category-cancer-colorectal-2","category-programa-de-mecanismos-moleculares-y-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2024-12-25 22:15:26","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10661","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=10661"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10661\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/10662"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=10661"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=10661"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=10661"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}