{"id":8432,"date":"2014-02-14T00:00:00","date_gmt":"2014-02-13T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2014\/02\/14\/confirmen-el-paper-dels-gens-pole-i-pold1-en-el-cancer-colorectal-hereditari-i-en-casos-de-poliposi-colonica\/"},"modified":"2021-11-16T17:42:01","modified_gmt":"2021-11-16T16:42:01","slug":"confirmen-el-paper-dels-gens-pole-i-pold1-en-el-cancer-colorectal-hereditari-i-en-casos-de-poliposi-colonica","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2014\/02\/confirmen-el-paper-dels-gens-pole-i-pold1-en-el-cancer-colorectal-hereditari-i-en-casos-de-poliposi-colonica\/","title":{"rendered":"Confirmen el paper dels gens POLE i POLD1 en el c\u00e0ncer colorectal hereditari i en casos de poliposi col\u00f2nica"},"content":{"rendered":"

La revista Human Molecular Genetics publica aquesta setmana un estudi liderat per Laura Valle i Ignacio Blanco, amb la participaci\u00f3 d\u2019altres membres del Programa de C\u00e0ncer Hereditari de l’ICO-IDIBELL i investigadors de la Comunitat Valenciana. L’article aporta noves evid\u00e8ncies sobre el paper de mutacions en els gens POLE i POLD1 en casos de poliposi i c\u00e0ncer de c\u00f2lon familiar.<\/p>\n

Mutacions en la l\u00ednia germinal en el domini exonucleasa dels gens POLE i POLD1, que codifiquen per a les polimerases \u03b5 i \u03b4 respectivament , s’havien descrit recentment en pacients amb m\u00faltiples p\u00f2lips i c\u00e0ncer de c\u00f2lon. Aquests resultats requerien una validaci\u00f3 en una s\u00e8rie independent que a m\u00e9s ajudaria a definir millor les caracter\u00edstiques cl\u00edniques dels pacients portadors de mutacions en aquests gens.<\/p>\n

Amb aquesta finalitat, l’equip investigador va estudiar m\u00e9s de 850 pacients amb poliposi i\/o c\u00e0ncer colorectal sense causa gen\u00e8tica identificada. Mitjan\u00e7ant aquest treball s’ha pogut demostrar el paper d’aquests gens no nom\u00e9s en casos amb poliposi, sin\u00f3 tamb\u00e9 en fam\u00edlies amb c\u00e0ncer colorectal i abs\u00e8ncia de p\u00f2lips, i amb c\u00e0ncer d’endometri, aix\u00ed com ampliar el coneixement genot\u00edpic d’aquesta nova s\u00edndrome heredit\u00e0ria.<\/p>\n

 <\/p>\n

Refer\u00e8ncia de l’article<\/strong><\/p>\n

Valle L, Hern\u00e1ndez-Ill\u00e1n E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Segu\u00ed N, Vargas G, Guarinos C, Juarez M, Sanju\u00e1n X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez-Soler M, Brunet J, Gonz\u00e1lez S, Jover R, L\u00e1zaro C, Capell\u00e1 G, Pineda M, Soto JL, Blanco I. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.<\/strong><\/a> Hum Mol Genet. 2014 Feb 5. [Epub ahead of print]<\/p>\n","protected":false},"excerpt":{"rendered":"

La revista Human Molecular Genetics publica aquesta setmana un estudi liderat per Laura Valle i Ignacio Blanco, amb la participaci\u00f3 d\u2019altres membres del Programa de C\u00e0ncer Hereditari de l’ICO-IDIBELL i investigadors de la Comunitat Valenciana. L’article aporta noves evid\u00e8ncies sobre el paper de mutacions en els gens POLE i POLD1 en casos de poliposi i […]<\/p>\n","protected":false},"author":6,"featured_media":8433,"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":[1,332,417,447],"tags":[],"class_list":["post-8432","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar","category-cancer","category-cancer-hereditari-noticies","category-p-de-mecanismes-molelculars-i-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2024-11-30 04:04:35","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\/8432","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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8432"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8432\/revisions"}],"predecessor-version":[{"id":19692,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8432\/revisions\/19692"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/8433"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8432"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8432"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8432"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}