{"id":23338,"date":"2023-10-25T10:00:36","date_gmt":"2023-10-25T08:00:36","guid":{"rendered":"https:\/\/idibell.cat\/es\/?p=23338"},"modified":"2023-10-25T10:30:16","modified_gmt":"2023-10-25T08:30:16","slug":"nuevas-recomendaciones-para-la-clasificacion-de-variantes-en-los-genes-pole-y-pold1-para-mejorar-la-precision-diagnostica-en-cancer-hereditario","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2023\/10\/nuevas-recomendaciones-para-la-clasificacion-de-variantes-en-los-genes-pole-y-pold1-para-mejorar-la-precision-diagnostica-en-cancer-hereditario\/","title":{"rendered":"Nuevas recomendaciones para la clasificaci\u00f3n de variantes en los genes POLE y POLD1 para mejorar la precisi\u00f3n diagn\u00f3stica en c\u00e1ncer hereditario"},"content":{"rendered":"<p>El <a href=\"https:\/\/idibell.cat\/es\/investigacion\/area-de-cancer\/programa-de-mecanismos-moleculares-y-terapia-experimental-en-oncologia-oncobell\/cancer-hereditario\/\">grupo de investigaci\u00f3n en C\u00e1ncer Hereditario<\/a> del Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (IDIBELL), Instituto Catal\u00e1n de Oncolog\u00eda (ICO) y CIBERONC, acaba de publicar un art\u00edculo en la revista <a href=\"https:\/\/genomemedicine.biomedcentral.com\/articles\/10.1186\/s13073-023-01234-y\">Genome Medicine<\/a> que proporciona nuevas recomendaciones para la clasificaci\u00f3n de variantes en los genes <em>POLE<\/em> y <em>POLD1<\/em>. Variantes patog\u00e9nicas de estos genes en l\u00ednea germinal causan un s\u00edndrome de c\u00e1ncer hereditario y poliposis gastrointestinal, caracterizado por la aparici\u00f3n de tumores con una alta carga mutacional.<\/p>\n<p>Desde la descripci\u00f3n inicial de este s\u00edndrome de c\u00e1ncer hereditario y poliposis en 2013, el grupo del IDIBELL y del ICO dirigido por la Dra. Laura Valle ha trabajado en su caracterizaci\u00f3n tanto desde el punto de vista molecular como cl\u00ednico. El grupo ha proporcionado recomendaciones para las pruebas gen\u00e9ticas de <em>POLE<\/em> y <em>POLD1<\/em> y para el seguimiento cl\u00ednico de los portadores. Sin embargo, la correcta clasificaci\u00f3n de variantes en estos genes resulta particularmente complicada debido a la naturaleza \u00fanica de estos genes y de las variantes patog\u00e9nicas asociadas a c\u00e1ncer. Sin ir m\u00e1s lejos, la clasificaci\u00f3n err\u00f3nea de variantes llevar\u00eda a una interpretaci\u00f3n incorrecta de los resultados de las pruebas gen\u00e9ticas, afectando al asesoramiento y seguimiento cl\u00ednico del paciente.<\/p>\n<p>El grupo ha aplicado estas recomendaciones de clasificaci\u00f3n a 128 variantes reportadas en la literatura y\/o bases de datos p\u00fablicas, llegando a clasificar 17 como variantes patog\u00e9nicas, y otras 17 como benignas.<\/p>\n<p>La Dra. Laura Valle, investigadora principal del IDIBELL y l\u00edder del proyecto indica que: \u201cNuestro objetivo es servir a las comunidades cl\u00ednica y cient\u00edfica mejorando el rendimiento diagn\u00f3stico y evitando clasificaciones err\u00f3neas de variantes. Creemos que estas nuevas recomendaciones contribuir\u00e1n significativamente a este esfuerzo.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Las nuevas recomendaciones de clasificaci\u00f3n se basan en las directrices generales para la clasificaci\u00f3n de variantes, siguiendo los est\u00e1ndares y principios internacionales.<\/p>\n","protected":false},"author":8,"featured_media":23339,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","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":"set","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-23338","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":"2024-12-29 08:23:01","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\/23338","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\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=23338"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/23338\/revisions"}],"predecessor-version":[{"id":23340,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/23338\/revisions\/23340"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/23339"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=23338"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=23338"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=23338"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}