{"id":8553,"date":"2013-05-16T00:00:00","date_gmt":"2013-05-15T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2013\/05\/16\/identifiquen-una-familia-amb-neurofibromatosi-de-tipus-1-i-cancer-de-mama-precoc-en-que-coexisteixen-mutacions-en-els-gens-nf1-i-brca1\/"},"modified":"2022-02-02T17:13:51","modified_gmt":"2022-02-02T16:13:51","slug":"identifiquen-una-familia-amb-neurofibromatosi-de-tipus-1-i-cancer-de-mama-precoc-en-que-coexisteixen-mutacions-en-els-gens-nf1-i-brca1","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2013\/05\/identifiquen-una-familia-amb-neurofibromatosi-de-tipus-1-i-cancer-de-mama-precoc-en-que-coexisteixen-mutacions-en-els-gens-nf1-i-brca1\/","title":{"rendered":"Identifiquen una fam\u00edlia amb neurofibromatosi de tipus 1 i c\u00e0ncer de mama preco\u00e7 en qu\u00e8 coexisteixen mutacions en els gens NF1 i BRCA1"},"content":{"rendered":"<p>Investigadors del Centre de Diagn\u00f2stic Gen\u00e8tic Molecular de l\u2019IDIBELL i del Laboratori d\u2019Oncogen\u00e8tica i la Unitat d&#8217;Alt Risc i Prevenci\u00f3 del C\u00e0ncer de l\u2019Hospital Vall d\u2019Hebron han estudiat una fam\u00edlia afectada tant per neurofibromatosi de tipus 1 com per c\u00e0ncer de mama preco\u00e7 i han detectat mutacions en els gens NF1 i BRCA1 com a responsables de les dues malalties, respectivament. L\u2019estudi s\u2019ha publicat en l\u2019edici\u00f3 digital de la revista <em>Breast Cancer Research and Treatment<\/em>.<\/p>\n<p>La neurofibromatosi de tipus 1 \u00e9s una malaltia neurocut\u00e0nia freq\u00fcent causada per mutacions en el gen NF1. Es manifesta cl\u00ednicament per la pres\u00e8ncia de taques \u201ccaf\u00e8 amb llet\u201d i neurofibromes (tumors benignes del sistema nervi\u00f3s perif\u00e8ric). A m\u00e9s, diversos estudis associen les mutacions en NF1 a un risc augmentat de patir diferents tipus de tumors malignes, com c\u00e0ncer de mama.<\/p>\n<p>L\u2019estudi realitzat per investigadors de l\u2019IDIBELL i de l\u2019Hospital de la Vall d\u2019Hebron avalua si la pres\u00e8ncia de neurofibromatosi i de c\u00e0ncer de mama en una fam\u00edlia pot ser atribu\u00efda a una mutaci\u00f3 en el gen NF1 o b\u00e9 a la coexist\u00e8ncia de dues mutacions en les c\u00e8l\u00b7lules germinals, una en el gen NF1 i l\u2019altra en un gen predisposici\u00f3 al c\u00e0ncer de mama (BRCA1 o BRCA2). L\u2019an\u00e0lisi molecular conclou que les dues malalties presents en la fam\u00edlia es deuen a l\u2019exist\u00e8ncia de dues mutacions en els gens NF1 i BRCA1<em>, <\/em>respectivament.<\/p>\n<p>La investigadora del Centre de Diagn\u00f2stic Gen\u00e8tic Molecular de l\u2019IDIBELL Berta Campos adverteix que \u201cels resultats d\u2019aquest estudi suggereixen que davant de l\u2019exist\u00e8ncia simult\u00e0nia de dues malalties que predisposen al c\u00e0ncer \u00e9s important identificar l\u2019origen gen\u00e8tic dels diferents tumors.\u201d<\/p>\n<p>\u201c\u00c9s a dir, si a una dona amb neurofibromatosi de tipus 1 se li diagnostica un c\u00e0ncer de mama i a m\u00e9s t\u00e9 antecedents familiars que suggereixen que \u00e9s c\u00e0ncer de mama hereditari, a part de buscar mutacions en el gen NF1 tamb\u00e9 s\u2019haurien de buscar mutacions en els gens BRCA1\/2<em>, <\/em>per tal de poder fer un seguiment adient de la pacient i oferir un consell gen\u00e8tic acurat a la fam\u00edlia.\u201d Mentre que diversos estudis atribueixen un 5% de risc de patir c\u00e0ncer de mama en dones amb mutaci\u00f3 en <em>NF1,<\/em> en el cas d\u2019una mutaci\u00f3 en BRCA1 aquest risc augmenta fins el 40 &#8211; 90%.<\/p>\n<p><strong>Centre de Diagn\u00f2stic Gen\u00e8tic<\/strong><\/p>\n<p>El Centre de Diagn\u00f2stic Gen\u00e8tic Molecular de l&#8217;IDIBELL \u00e9s pioner a Espanya en la realitzaci\u00f3 d&#8217;estudis moleculars de gen\u00e8tica cl\u00ednica i des de 1990 desenvolupa la seva activitat amb objectius assistencials i d\u2019investigaci\u00f3. En els seus m\u00e9s de vint anys de vida el CDGM ha elaborat una ADNteca amb m\u00e9s de 30.000 mostres de diverses malalties heredit\u00e0ries i ha realitzat m\u00e9s de 25.000 informes de consell gen\u00e8tic d\u2019aquestes malalties. Gr\u00e0cies a la gran quantitat de mostres a les qu\u00e8 t\u00e9 acc\u00e9s el centre, s\u2019han pogut dur a terme nombroses investigacions sobre l\u2019origen i la transmissi\u00f3 de mutacions de l\u2019ADN que causen aquestes malalties.<\/p>\n<p>Al centre es diagnostiquen malalties heredit\u00e0ries com at\u00e0xies, malalties neurodegeneratives, neurofibromatosi o fibrosi qu\u00edstica, entre d\u2019altres.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Refer\u00e8ncia de l\u2019article<\/strong><strong><br \/>\n<\/strong> Campos B., Balma\u00f1a J., Gardenyes J., Valenzuela I., Abad O., F\u00e0bregas P., Volpini V. and D\u00edez O. <strong>Germline mutations in <em>NF1<\/em> and <em>BRCA1<\/em> in a family with neurofibromatosis type 1 and early-onset breast cancer<\/strong>. <a href=\"http:\/\/link.springer.com\/journal\/10549\">Breast Cancer Research and Treatment<\/a>. doi 10.1007\/s10549-013-2538-6.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Investigadors del Centre de Diagn\u00f2stic Gen\u00e8tic Molecular de l\u2019IDIBELL i del Laboratori d\u2019Oncogen\u00e8tica i la Unitat d&#8217;Alt Risc i Prevenci\u00f3 del C\u00e0ncer de l\u2019Hospital Vall d\u2019Hebron han estudiat una fam\u00edlia afectada tant per neurofibromatosi de tipus 1 com per c\u00e0ncer de mama preco\u00e7 i han detectat mutacions en els gens NF1 i BRCA1 com a [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":20374,"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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