Investigadors de l\u2019Institut Catal\u00e0 d\u2019Oncologia (ICO) a l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) han desenvolupat i validat un nou m\u00e8tode per diagnosticar la s\u00edndrome de c\u00e0ncer de mama i ovari hereditari basat en la seq\u00fcenciaci\u00f3 massiva dels gens BRCA1 i BRCA2. El model es basa en una an\u00e0lisi gen\u00e8tica i bioinform\u00e0tica que s\u2019ha demostrat molt efectiva. El nou protocol ha estat descrit en un article publicat a la revista European Journal of Human Genetics.<\/p>\n
En els darrers anys els nous aven\u00e7os en les t\u00e8cniques de seq\u00fcenciaci\u00f3 han comportat el desenvolupament de noves plataformes per la seq\u00fcenciaci\u00f3 d’\u00e0cids nucleics, anomenades plataformes de seq\u00fcenciaci\u00f3 massiva o nova generaci\u00f3 de seq\u00fcenciaci\u00f3. Aquestes millores tecnol\u00f2giques han suposat una revoluci\u00f3 en la recerca biom\u00e8dica, en el camp de la gen\u00e8tica i la gen\u00f2mica. L’aparici\u00f3 de seq\u00fcenciadors de nova generaci\u00f3 i la possibilitat de combinar mostres de diferents pacients, utilitzant identificadors ha perm\u00e8s adaptar aquestes noves tecnologies al camp del diagn\u00f2stic gen\u00e8tic.<\/p>\n
Mitjan\u00e7ant la utilitzaci\u00f3 d\u2019una plataforma de seq\u00fcenciaci\u00f3 massiva d\u2019\u00faltima generaci\u00f3, l\u2019equip dirigit per la investigadora Conxi L\u00e1zaro, del Programa de C\u00e0ncer Hereditari de l\u2019ICO i l\u2019IDIBELL, ha desenvolupat un protocol complet que permet seq\u00fcenciar totes les regions codificadores i les regions adjacents dels gens BRCA1 i BRCA2, responsables del c\u00e0ncer de mama i ovari hereditari.<\/p>\n
Algoritme de seq\u00fcenciaci\u00f3 massiva<\/strong> <\/p>\n <\/strong> \u201cAquesta aproximaci\u00f3 ha perm\u00e8s identificar totes les mutacions puntuals i petites delecions i insercions analitzades, fins i tot en regions d’elevada dificultat t\u00e8cnica, com s\u00f3n les regions homopolim\u00e8riques\u201d, explica la investigadora de l\u2019ICO-IDIBELL. El protocol desenvolupat \u00e9s un algoritme propi de seq\u00fcenciaci\u00f3 massiva i an\u00e0lisi bioinform\u00e0tica propi que ha demostrat ser molt eficient en la detecci\u00f3 de totes les mutacions existents i per eliminar falsos positius.<\/p>\n La validaci\u00f3 d\u2019aquest algoritme per diagnosticar la s\u00edndrome heredit\u00e0ria de c\u00e0ncer de mama i ovari ha demostrat una sensibilitat i especificitat del 100% en les mostres analitzades, a m\u00e9s de reduir costos i temps d’obtenci\u00f3 dels resultats.<\/p>\n Aix\u00ed mateix, l’equip de recerca liderat per L\u00e1zaro est\u00e0 aplicant l’\u00fas d’aquesta aproximaci\u00f3 pels gens responsables de c\u00e0ncer colorectal hereditari, com la poliposi familiar i la s\u00edndrome de Lynch.<\/p>\n Fins a un deu per cent dels c\u00e0ncers s\u00f3n hereditaris, cosa que significa que es transmeten de pares a fills mutacions gen\u00e8tiques que predisposen a patir diversos tipus de tumors. La identificaci\u00f3 d\u2019aquestes mutacions \u00e9s molt important per prevenir l\u2019aparici\u00f3 de tumors en les persones que en tenen predisposici\u00f3 familiar.<\/p>\n La s\u00edndrome de c\u00e0ncer de mama i ovari hereditari \u00e9s un dels tipus de c\u00e0ncer hereditari que afecta m\u00e9s persones. La malaltia est\u00e0 causada per mutacions en els gens BRCA1 i BRCA2. Aquestes mutacions tamb\u00e9 estan relacionades amb altres tipus de c\u00e0ncers.<\/p>\n Refer\u00e8ncia de l\u2019article<\/strong><\/p>\n Feliubadal\u00f3 L, Lopez-Doriga A, Castellsagu\u00e9 E, del Valle J, Men\u00e9ndez M, Tornero E, Montes E, Cuesta R, G\u00f3mez C, Campos O, Pineda M, Gonz\u00e1lez S, Moreno V, Brunet J, Blanco I, Serra E, Capell\u00e1 G, L\u00e1zaro C. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. European Journal of Human Genetics. Dec 19. DOI: 10.1038\/ejhg.2012.270. [Epub ahead of print].<\/p>\n","protected":false},"excerpt":{"rendered":" Investigadors de l\u2019Institut Catal\u00e0 d\u2019Oncologia (ICO) a l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) han desenvolupat i validat un nou m\u00e8tode per diagnosticar la s\u00edndrome de c\u00e0ncer de mama i ovari hereditari basat en la seq\u00fcenciaci\u00f3 massiva dels gens BRCA1 i BRCA2. El model es basa en una an\u00e0lisi gen\u00e8tica i bioinform\u00e0tica que s\u2019ha demostrat molt […]<\/p>\n","protected":false},"author":6,"featured_media":20726,"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-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-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-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-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-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-gradient":""}},"footnotes":""},"categories":[332,417,447],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-09 14:52:27","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9413"}],"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=9413"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9413\/revisions"}],"predecessor-version":[{"id":20728,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9413\/revisions\/20728"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/20726"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=9413"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=9413"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=9413"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}