{"id":21101,"date":"2022-04-07T11:00:55","date_gmt":"2022-04-07T09:00:55","guid":{"rendered":"https:\/\/idibell.cat\/?p=21101"},"modified":"2022-04-07T11:17:10","modified_gmt":"2022-04-07T09:17:10","slug":"identifiquen-la-base-biologica-responsable-del-desenvolupament-de-cancer-de-mama-en-pacients-portadores-de-mutacions-en-brca1","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2022\/04\/identifiquen-la-base-biologica-responsable-del-desenvolupament-de-cancer-de-mama-en-pacients-portadores-de-mutacions-en-brca1\/","title":{"rendered":"Identifiquen la base biol\u00f2gica responsable del desenvolupament de c\u00e0ncer de mama en pacients portadores de mutacions en BRCA1"},"content":{"rendered":"<p>Les mutacions en el gen <em>BRCA1<\/em> s&#8217;hereten de pares a fills i confereixen un alt risc de patir c\u00e0ncer de mama i ovari. Una de cada 1000 persones s\u00f3n portadores de mutacions en aquest gen, i entre <strong>el 45 i 85% de les dones portadores desenvoluparan un tumor de mama abans dels 80 anys<\/strong>. Els factors que determinen desenvolupar o no el c\u00e0ncer posseint la mateixa mutaci\u00f3 s\u00f3n encara desconeguts, el que dificulta la presa de decisions. Ara un estudi de l&#8217;Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (<a href=\"https:\/\/idibell.cat\/recerca\/area-de-cancer\/programa-de-mecanismes-molleculars-i-terapia-experimental-en-oncologia-oncobell\/cancer-ginecologic\/\">IDIBELL<\/a>) i de l&#8217;Institut Catal\u00e0 d&#8217;Oncologia (<a href=\"https:\/\/ico.gencat.cat\/ca\/inici\">ICO<\/a>) desvetlla els mecanismes moleculars i cel\u00b7lulars que determinen que dues dones amb la mateixa mutaci\u00f3 <em>BRCA1<\/em> presentin riscos de c\u00e0ncer diferents.<\/p>\n<p>A m\u00e9s, l&#8217;article publicat a la revista <a href=\"https:\/\/www.nature.com\/articles\/s41467-022-29335-z\"><strong><em>Nature Communications<\/em><\/strong><\/a> identifica les <strong>mol\u00e8cules responsables de fer augmentar el risc <\/strong>de c\u00e0ncer en dones que ja presenten mutacions en <em>BRCA1<\/em>, possibles <strong>dianes terap\u00e8utiques<\/strong> per prevenir l&#8217;aparici\u00f3 dels tumors. Fins ara, les estrat\u00e8gies de prevenci\u00f3 que segueixen les dones amb mutacions al gen <em>BRCA1 <\/em>es limiten a mamografies freq\u00fcents i\/o mastectomies preventives.<\/p>\n<p>El <strong>Dr. Miquel \u00c0ngel Pujana<\/strong>, cap del grup de recerca de C\u00e0ncer de Mama de l&#8217;IDIBELL i de l&#8217;Institut Catal\u00e0 d\u2019Oncologia, i l\u00edder del projecte, afirma: &#8220;<em>Con\u00e8ixer la base biol\u00f2gica de l&#8217;increment del risc de c\u00e0ncer de mama familiar per mutacions del gen BRCA1 es fonamental per avan\u00e7ar cap a una prevenci\u00f3 personalitzada. La identificaci\u00f3 de mol\u00e8cules involucrades en el origen dels tumors indu\u00efts per mutacions de BRCA1 ens podria permetre aplicar ter\u00e0pies dirigides per evitar el desenvolupament d\u2019aquest tipus de c\u00e0nce<\/em>r&#8221;.<\/p>\n<h3>La sobreexpressi\u00f3 del gen <em>HMMR<\/em> augmenta el risc de c\u00e0ncer en dones portadores de mutacions en el gen <em>BRCA1<\/em><\/h3>\n<p>L&#8217;an\u00e0lisi de dades gen\u00e8tiques de m\u00e9s de 130.000 dones afectades de c\u00e0ncer de mama, conjuntament amb estudis amb models de ratolins, han perm\u00e8s identificar la sobreexpressi\u00f3 del gen HMMR com a factor de risc. <strong>La sobreexpressi\u00f3 de HMMR en combinaci\u00f3 amb la mutaci\u00f3 de <em>BRCA1<\/em> altera la correcta divisi\u00f3 cel\u00b7lular<\/strong> i indueix senyals proinflamat\u00f2ries que acaben provocant el desenvolupament de tumors.<\/p>\n<p>La <strong>Dra. Francesca Mateo<\/strong>, primera autora del treball i investigadora de l&#8217;IDIBELL i de l&#8217;Institut Catal\u00e0 d\u2019Oncologia, apunta que ja existeixen f\u00e0rmacs aprovats per a altres malalties que actuen sobre els senyals proinflamatoris cancer\u00edgens trobats. &#8220;<em>Seria esperable poder desenvolupar estrat\u00e8gies preventives m\u00e9s eficaces i segures que les actuals a trav\u00e9s del tractament amb aquests f\u00e0rmacs a les dones amb mutacions en BRCA1 i amb sobreexpressi\u00f3 de HMMR<\/em>&#8220;, comenta la Dra. Mateo.<\/p>\n<h3>Finan\u00e7ament i col\u00b7laboracions<\/h3>\n<p>L&#8217;estudi s&#8217;ha portat a terme gr\u00e0cies a la col\u00b7laboraci\u00f3 de les associacions de pacients: Asociaci\u00f3n de Mujeres Afectadas de C\u00e1ncer de Mama (DACMA), GINKGO Apac del Bergued\u00e0, Viladecans Contra el C\u00e0ncer i &#8220;Toca-te-les&#8221; de Cornell\u00e0.<\/p>\n<p>El treball ha estat coliderat pel <strong>Dr. Christopher A. Maxwell <\/strong>de la Universitat de British Columbia de Canad\u00e0, i el <strong>Dr. Miquel \u00c0ngel Pujana<\/strong>, de l&#8217;IDIBELL i de l&#8217;Institut Catal\u00e0 d\u2019Oncologia. A m\u00e9s ha comptat amb la participaci\u00f3 d&#8217;experts i expertes en diferents \u00e0rees de recerca de l&#8217;IDIBELL, Institut Catal\u00e0 Oncologia i d&#8217;altres institucions internacionals.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><em>L\u2019Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l&#8217;Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l&#8217;Institut Catal\u00e0 de la Salut, l&#8217;Institut Catal\u00e0 d&#8217;Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n<p><em>L\u2019IDIBELL \u00e9s membre del Campus d&#8217;Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L&#8217;any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un estudi de l&#8217;IDIBELL i de l&#8217;Institut Catal\u00e0 d\u2019Oncologia publicat a la revista Nature Communications indica que la sobrexpressi\u00f3 del gen HMMR en dones amb mutacions en BRCA1 altera processos cel\u00b7lulars fonamentals i accelera el desenvolupament del c\u00e0ncer de mama.<\/p>\n","protected":false},"author":8,"featured_media":21102,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","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 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