{"id":90649,"date":"2018-03-11T10:09:14","date_gmt":"2018-03-11T10:09:14","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/nuevas-aportaciones-a-la-caracterizacion-de-genes-de-susceptibilidad-en-cancer-de-mama\/"},"modified":"2018-03-11T10:09:14","modified_gmt":"2018-03-11T10:09:14","slug":"nuevas-aportaciones-a-la-caracterizacion-de-genes-de-susceptibilidad-en-cancer-de-mama","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/salamanca\/nuevas-aportaciones-a-la-caracterizacion-de-genes-de-susceptibilidad-en-cancer-de-mama\/","title":{"rendered":"Nuevas aportaciones a la caracterizaci\u00f3n de genes de susceptibilidad en c\u00e1ncer de mama"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Marta Rubio Rodrigo <\/strong><\/h2>\n<p>El c\u00e1ncer de mama es el c\u00e1ncer m\u00e1s frecuente en la poblaci\u00f3n femenina. En la comunidad de castilla-le\u00f3n la incidencia es de unos 60 casos por cada 100.000 mujeres y a\u00f1o. Las mutaciones en los genes brca1 y brca2 son la causa del 40-80% de todos los c\u00e1nceres de mama y ovario hereditarios. Los portadores de mutaciones en alguno de estos genes tienen un riesgo alto de desarrollar c\u00e1ncer de mama y\/o ovario a lo largo de su vida. realizamos la b\u00fasqueda de mutaciones en los genes brca1 y brca2 en pacientes y familias de alto riesgo referidas a la unidad de consejo gen\u00e9tico del hospital universitario de salmanca durante los a\u00f1os 2003 a 2007. Estudiamos 343 probandos pertenecientes a familias con alto riesgo de padecer c\u00e1ncer de mama y\/o ovario hereditario. Encontramos 51 mutaciones puntuales en el gen brca1: 9 patog\u00e9nicas, 26 polimorfismos neutrales y 16 variantes de significado desconocido. De entre ellas, 3 fueron de nueva descripci\u00f3n.  asimismo encontramos 59 mutaciones puntuales en el gen brca2: 10 patog\u00e9nicas, 34 polimorfismos y 15 variantes sin clasificar. De entre ellas, 10 fueron de nueva descripci\u00f3n. igualmente, caracterizamos un reordenamiento en el que se produce la p\u00e9rdida del ex\u00f3n 14 de brca1 y la inserci\u00f3n de una secuencia alu. por otro lado, estudiamos de forma pormenorizada 12 variantes de significado desconocido del gen brca2 por diversos m\u00e9todos, y clasificamos 8 de ellas como neutrales y 4 como posiblemente patog\u00e9nicas, por lo que son las candidatas para ser caracterizadas en mayor profundidad (mediante ensayos funcionales).<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Nuevas aportaciones a la caracterizaci\u00f3n de genes de susceptibilidad en c\u00e1ncer de mama<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Nuevas aportaciones a la caracterizaci\u00f3n de genes de susceptibilidad en c\u00e1ncer de mama <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Marta Rubio Rodrigo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Salamanca<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/12\/2008<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Rogelio Gonzalez Sarmiento<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: eugenio Miguel angel Santos de dios <\/li>\n<li>Alberto Caballero Garc\u00eda (vocal)<\/li>\n<li>Jos\u00e9 Javier Castrodeza sanz (vocal)<\/li>\n<li>raquel Salazar saez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Marta Rubio Rodrigo El c\u00e1ncer de mama es el c\u00e1ncer m\u00e1s frecuente en la poblaci\u00f3n femenina. En [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","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":"","adv-header-id-meta":"","stick-header-meta":"","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":"var(--ast-global-color-4)","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":[11771,9386],"tags":[28654,57650,12513,188036,40869,26315],"class_list":["post-90649","post","type-post","status-publish","format-standard","hentry","category-genetica-clinica","category-salamanca","tag-alberto-caballero-garcia","tag-eugenio-miguel-angel-santos-de-dios","tag-jose-javier-castrodeza-sanz","tag-marta-rubio-rodrigo","tag-raquel-salazar-saez","tag-rogelio-gonzalez-sarmiento"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/90649","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=90649"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/90649\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=90649"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=90649"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=90649"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}