{"id":7671,"date":"2018-03-14T00:00:00","date_gmt":"2018-03-13T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2018\/03\/14\/un-consorci-internacional-liderat-per-investigadors-catalans-descobreix-un-nou-gen-anomenat-edc4-implicat-en-el-cancer-de-mama-familiar\/"},"modified":"2020-05-13T19:46:30","modified_gmt":"2020-05-13T17:46:30","slug":"un-consorci-internacional-liderat-per-investigadors-catalans-descobreix-un-nou-gen-anomenat-edc4-implicat-en-el-cancer-de-mama-familiar","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2018\/03\/un-consorci-internacional-liderat-per-investigadors-catalans-descobreix-un-nou-gen-anomenat-edc4-implicat-en-el-cancer-de-mama-familiar\/","title":{"rendered":"Un consorci internacional liderat per investigadors catalans descobreix un nou gen anomenat EDC4 implicat en el c\u00e0ncer de mama familiar"},"content":{"rendered":"<table cellpadding=\"3\" height=\"100%\" width=\"100%\">\n<tbody>\n<tr>\n<td>\n<p>Un consorci internacional d\u2019investigadors liderat pel Dr. Jordi Surrall\u00e9s, director del Servei de Gen\u00e8tica de l\u2019Hospital de Sant Pau, Catedr\u00e0tic de Gen\u00e8tica de la Universitat Aut\u00f2noma de Barcelona (UAB) i investigador del Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) i el Dr. Miquel \u00c0ngel Pujana, director del Programa de Recerca ProCURE de l\u2019Institut Catal\u00e0 d\u2019Oncologia (ICO, IDIBELL) ha identificat un nou gen, implicat en el c\u00e0ncer de mama familiar, anomenat EDC4.<\/p>\n<p>Els investigadors han demostrat que EDC4 codifica un prote\u00efna que interacciona amb BRCA1 i que t\u00e9 un paper fonamental en la reparaci\u00f3 del DNA pel mecanisme de recombinaci\u00f3 hom\u00f2loga. Aplicant t\u00e8cniques de seq\u00fcenciaci\u00f3 massiva en m\u00e9s de mil pacients amb c\u00e0ncer de mama i controls sans, els investigadors han vist que la freq\u00fc\u00e8ncia de portadors de mutacions en EDC4 en pacients amb c\u00e0ncer familiar \u00e9s 6 cops m\u00e9s alta que en persones sanes. A m\u00e9s, els investigadors han estudiat en detall l\u2019efecte d\u2019aquestes mutacions emprant t\u00e8cniques avan\u00e7ades d\u2019enginyeria i edici\u00f3 gen\u00e8tica i han pogut demostrar que les mutacions s\u00f3n patog\u00e8niques perqu\u00e8 anul\u00b7len la funci\u00f3 reparadora d\u2019EDC4. Finalment, els autors de l\u2019estudi han demostrat que c\u00e8l\u00b7lules amb EDC4 mutat s\u00f3n molt sensibles als inhibidors de la PARP, el que planteja una oportunitat per explorar una possible via terap\u00e8utica per a les pacients amb mutacions en aquest gen.<\/p>\n<p><strong>Origen gen\u00e8tic del c\u00e0ncer de mama\u00a0<\/strong><\/p>\n<p>\u00a0<\/p>\n<p>El c\u00e0ncer de mama \u00e9s un dels tumors m\u00e9s prevalents en la nostra societat. Es calcula que un 5-10% d\u2019aquests c\u00e0ncers s\u00f3n d\u2019origen hereditari, presentant-se en fam\u00edlies sovint amb m\u00faltiples pacients amb edats relativament joves. Els gens causals m\u00e9s importants s\u00f3n els anomenats BRCA1 i BRCA2, descoberts a mitjans dels anys noranta. BRCA1 \u00e9s un gen supressor tumoral implicat en la reparaci\u00f3 del DNA per recombinaci\u00f3 hom\u00f2loga i en la preservaci\u00f3 de la integritat del genoma. Tumors de mama o d\u2019ovari deficients en un d\u2019aquests dos gens s\u00f3n molt sensibles a una quimioter\u00e0pia de nova generaci\u00f3, els inhibidors de la PARP, que est\u00e0 revolucionant el tractament oncol\u00f2gic d\u2019aquest tipus de c\u00e0ncer. El descobriment de nous gens implicats en aquests mecanismes de reparaci\u00f3 \u00e9s molt important per entendre el desenvolupament d\u2019aquests tumors i aprofundir en les seves vulnerabilitats terap\u00e8utiques.<\/p>\n<p>\u00a0<\/p>\n<p><strong>Nature Communications<\/strong><\/p>\n<p>\u00a0<\/p>\n<p>Aquest estudi ha estat publicat a la revista Nature Communications en un article coliderat pel Dr. Surrall\u00e9s i el Dr. Pujana (<a href=\"http:\/\/rdcu.be\/IqIX\">http:\/\/rdcu.be\/IqIX<\/a>). Els dos primers coautors de l\u2019article s\u00f3n el Dr. Gonzalo Hern\u00e1ndez de la UAB i la Dra. Mar\u00eda Jos\u00e9 Ram\u00edrez del Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), ambd\u00f3s Investigadors postdoctorals de grup de recerca del Dr. Surrall\u00e9s que forma part de l\u2019Institut d\u2019Investigacions Biom\u00e8diques de l\u2019Hospital de Sant Pau, la UAB i el CIBERER. Altres coautors de l\u2019estudi s\u00f3n Jordi Minguill\u00f3n, M\u00edriam Aza-Carmona, Massimo Bogliolo i Roser Pujol del equip del Dr. Surrall\u00e9s, Paco Quiles, Gorka Ruiz de Garibay, Juana Fern\u00e1ndez, Nadia Garc\u00eda, Adri\u00e0 L\u00f3pez, M\u00f2nica Salinas, \u00c0lex Teul\u00e9, Joan Brunet i Conxi L\u00e1zaro de l\u2019ICO, Rosario Prados-Carvajal i Pablo Huertas del CABIMER (Sevilla), Sara Guti\u00e9rrez-Enr\u00edquez i Orland D\u00edez de l\u2019Hospital Vall d\u2019Hebron (Barcelona), Javier Ben\u00edtez del CNIO (Madrid), Paolo Radice i Paolo Peterlongo de l\u2019Institut Nacional del Tumor de Mil\u00e0 (It\u00e0lia), Detlev Schindler de la Universitat de Wurzburg (Alemanya) i Xos\u00e9 Puente de la Universitat d\u2019Oviedo.<\/p>\n<\/td>\n<\/tr>\n<tr><\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"<p>Un consorci internacional d\u2019investigadors liderat pel Dr. Jordi Surrall\u00e9s, director del Servei de Gen\u00e8tica de l\u2019Hospital de Sant Pau, Catedr\u00e0tic de Gen\u00e8tica de la Universitat Aut\u00f2noma de Barcelona (UAB) i investigador del Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) i el Dr. Miquel \u00c0ngel Pujana, director del Programa de Recerca ProCURE de [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":10595,"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 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