{"id":10704,"date":"2015-10-19T00:00:00","date_gmt":"2015-10-18T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/es\/blog\/2015\/10\/19\/contribucion-a-la-definicion-de-un-nuevo-sindrome-de-cancer-colorrectal-hereditario\/"},"modified":"2020-05-20T15:12:05","modified_gmt":"2020-05-20T13:12:05","slug":"contribucion-a-la-definicion-de-un-nuevo-sindrome-de-cancer-colorrectal-hereditario","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2015\/10\/contribucion-a-la-definicion-de-un-nuevo-sindrome-de-cancer-colorrectal-hereditario\/","title":{"rendered":"Contribuci\u00f3n a la definici\u00f3n de un nuevo s\u00edndrome de c\u00e1ncer colorrectal hereditario"},"content":{"rendered":"

El s\u00edndrome asociado a la actividad reparadora de las polimerasas se caracteriza por la presencia de mutaciones en l\u00ednea germinal en los dominios exonucleasa de las polimerasas \u03b5 (POLE) y \u03b4 (POLD1), causando un aumento de riesgo de c\u00e1ncer colorectal y poliposis. Por otra parte, las mujeres portadoras de mutaciones en POLD1<\/em> tambi\u00e9n tienen un alto riesgo de desarrollar c\u00e1ncer de endometrio.
Las mutaciones en POLE<\/em> y POLD1<\/em> como causa de poliposis y c\u00e1ncer de colon se identificaron por primera vez en 2013 (Palles et al. Nat Genet 2013), gracias a la secuenciaci\u00f3n del genoma completo de pacientes con poliposis y c\u00e1ncer de colon. Desde entonces, el grupo liderado por
Laura Valle en el Programa de C\u00e1ncer Hereditario del Institut Catal\u00e0 d’Oncologia (ICO), Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), ha sido pionero en la caracterizaci\u00f3n del s\u00edndrome (Valle et al. Hum Mol Genet 2014, Bellido et al. Genet Med 2015).
En su \u00faltima contribuci\u00f3n, publicada recientemente en la revista Genetics in Medicine, se han secuenciado los dos genes en m\u00e1s de 500 familias con c\u00e1ncer colorrectal familiar y\/o poliposis sin mutaciones identificadas en los genes de alto riesgo conocidos. Identificaron un total de 7 mutaciones diferentes, por lo menos 5 de ellas con una evidencia muy fuerte de la patogenicidad. Estos casos, junto a otros descritos previamente, les han permitido caracterizar mejor el s\u00edndrome desde un punto de vista gen\u00e9tico y cl\u00ednico. Ahora sabemos que las caracter\u00edsticas cl\u00ednicas asociadas a este s\u00edndrome son: la poliposis atenuada u oligo-poliposis, el c\u00e1ncer colorrectal y probablemente los tumores cerebrales. Adem\u00e1s, las mutaciones en POLD1 predisponen a c\u00e1ncer de endometrio y a c\u00e1ncer de mama.
Gracias a la revisi\u00f3n exhaustiva de los casos descritos, el equipo de investigaci\u00f3n ha propuesto las primeras recomendaciones para la realizaci\u00f3n del estudio gen\u00e9tico de POLE<\/em> y POLD1<\/em> y unas gu\u00edas preliminares para la vigilancia cl\u00ednica de portadores de
mutaci\u00f3n.
Para este estudio, el Programa de C\u00e1ncer Hereditario (ICO-IDIBELL e ICO-IDIBGi) ha contado con la colaboraci\u00f3n de investigadores de la Universidad de Oviedo, del Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO) y del Hospital Universitario de Elche.
Referencia del art\u00edculo<\/strong>
*Bellido F, *Pineda M, Aiza G, Vald\u00e9s-Mas R, Navarro M, Puente DA, Pons T, Gonz\u00e1lez S, Iglesias S, Darder E, Pi\u00f1ol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, L\u00e1zaro C, Capell\u00e1 G, Puente XS, Valle L. POLE and POLD1 mutations in 529 kindreds with familial colorectal cancer and\/or polyposis, review of reported cases and recommendations for genetic testing and surveillance. Genetics in Medicine 2015 <\/strong> doi:10.1038\/gim.2015.75<\/p>\n","protected":false},"excerpt":{"rendered":"

Referencia del art\u00edculo Genetics in Medicine 2015<\/p>\n","protected":false},"author":6,"featured_media":10705,"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":[184,250,281],"tags":[],"class_list":["post-10704","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-cancer","category-cancer-hereditario","category-programa-de-mecanismos-moleculares-y-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2024-12-25 23:44:17","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\/10704","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=10704"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10704\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/10705"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=10704"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=10704"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=10704"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}