{"id":24335,"date":"2023-10-25T10:00:52","date_gmt":"2023-10-25T08:00:52","guid":{"rendered":"https:\/\/idibell.cat\/?p=24335"},"modified":"2023-10-25T10:29:23","modified_gmt":"2023-10-25T08:29:23","slug":"noves-recomanacions-per-a-la-classificacio-de-variants-en-els-gens-pole-i-pold1-per-millorar-la-precisio-diagnostica-en-cancer-hereditari","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2023\/10\/noves-recomanacions-per-a-la-classificacio-de-variants-en-els-gens-pole-i-pold1-per-millorar-la-precisio-diagnostica-en-cancer-hereditari\/","title":{"rendered":"Noves recomanacions per a la classificaci\u00f3 de variants en els gens POLE i POLD1 per millorar la precisi\u00f3 diagn\u00f2stica en c\u00e0ncer hereditari"},"content":{"rendered":"

El grup de recerca en C\u00e0ncer Hereditari<\/a> de l’Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), l\u2019Institut Catal\u00e0 d’Oncologia (ICO) i el CIBERONC, acaba de publicar un article a la revista Genome Medicine<\/a> que proporciona noves recomanacions per a la classificaci\u00f3 de variants en els gens POLE i POLD1. Les variants patog\u00e8niques d\u2019aquests gens en l\u00ednia germinal causen una s\u00edndrome de c\u00e0ncer hereditari i poliposi gastrointestinal, caracteritzada per l’aparici\u00f3 de tumors amb una alta c\u00e0rrega mutacional.<\/p>\n

Des de la descripci\u00f3 inicial d’aquesta s\u00edndrome de c\u00e0ncer hereditari i poliposi el 2013, el grup de l’IDIBELL i de l’ICO dirigit per la Dra. Laura Valle ha treballat en la seva caracteritzaci\u00f3 tant des del punt de vista molecular com cl\u00ednic. El grup ha proporcionat recomanacions per a les proves gen\u00e8tiques de POLE i POLD1 i per al seguiment cl\u00ednic dels portadors. Tot i aix\u00f2, la correcta classificaci\u00f3 de variants en aquests gens resulta particularment complicada a causa de la naturalesa \u00fanica d’aquests gens i de les seves variants patog\u00e8niques associades a c\u00e0ncer. Sense anar m\u00e9s lluny, la classificaci\u00f3 err\u00f2nia de variants portaria a una interpretaci\u00f3 incorrecta dels resultats de les proves gen\u00e8tiques, afectant l’assessorament i el seguiment cl\u00ednic del pacient.<\/p>\n

El grup ha aplicat aquestes recomanacions de classificaci\u00f3 a 128 variants reportades en la literatura i\/o bases de dades p\u00fabliques, arribant a classificar-ne 17 com a variants patog\u00e8niques, i 17 m\u00e9s com a benignes.<\/p>\n

La Dra. Laura Valle, investigadora principal de l’IDIBELL i l\u00edder del projecte indica que: \u201cEl nostre objectiu \u00e9s servir les comunitats cl\u00ednica i cient\u00edfica millorant el rendiment diagn\u00f2stic i evitant classificacions err\u00f2nies de variants. Creiem que aquestes noves recomanacions contribuiran significativament a aquest esfor\u00e7\u201d.<\/p>\n","protected":false},"excerpt":{"rendered":"

Les noves recomanacions de classificaci\u00f3 es basen en les directrius generals per a la classificaci\u00f3 de variants, seguint els est\u00e0ndards i els principis internacionals.<\/p>\n","protected":false},"author":8,"featured_media":24337,"comment_status":"closed","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":[332,417,446,447],"tags":[],"class_list":["post-24335","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cancer","category-cancer-hereditari-noticies","category-noticies","category-p-de-mecanismes-molelculars-i-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2024-12-31 11:35:34","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24335","targetHints":{"allow":["GET"]}}],"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\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=24335"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24335\/revisions"}],"predecessor-version":[{"id":24338,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24335\/revisions\/24338"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/24337"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=24335"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=24335"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=24335"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}