{"id":95248,"date":"2018-03-11T10:15:10","date_gmt":"2018-03-11T10:15:10","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/busqueda-de-genes-de-susceptibilidad-a-cancer-de-mama-esporadico-estudios-de-asociacion-y-estudios-funcionales\/"},"modified":"2018-03-11T10:15:10","modified_gmt":"2018-03-11T10:15:10","slug":"busqueda-de-genes-de-susceptibilidad-a-cancer-de-mama-esporadico-estudios-de-asociacion-y-estudios-funcionales","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/busqueda-de-genes-de-susceptibilidad-a-cancer-de-mama-esporadico-estudios-de-asociacion-y-estudios-funcionales\/","title":{"rendered":"B\u00fasqueda de genes de susceptibilidad a c\u00e1ncer de mama espor\u00e1dico: estudios de asociaci\u00f3n y estudios funcionales"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Eva Barroso Ramos <\/strong><\/h2>\n<p>El c\u00e1ncer de mama espor\u00e1dico, que representa hasta el 95% de los casos con c\u00e1ncer de mama, es una enfermedad compleja causada por cambios comunes en la poblaci\u00f3n en un n\u00famero indeterminado de genes, en combinaci\u00f3n con factores ambientales. La identificaci\u00f3n y caracterizaci\u00f3n de estos cambios comunes han sido el objetivo de la presente tesis doctoral. Se sigui\u00f3 un dise\u00f1o de estudio de asociaci\u00f3n caso\u00c2\u00bfcontrol con una selecci\u00f3n de 33 genes candidatos, 19 de ellos implicados en funciones de reparaci\u00f3n del adn, y 14 genes con funciones en el control del ciclo celular, genotipando un total de 169 snps en 547 casos de c\u00e1ncer de mama espor\u00e1dico y 552 controles de poblaci\u00f3n normal. Los resultados de asociaci\u00f3n de genotipo y fenotipo, as\u00ed como los an\u00e1lisis funcionales realizados han establecido, principalmente, la implicaci\u00f3n de dos genes de las familias fanc y e2f en el desarrollo del c\u00e1ncer de mama espor\u00e1dico. Un snp codificante sin\u00f3nimo en el gen fancd2 se asoci\u00f3 con la enfermedad, y la b\u00fasqueda de otras variantes putativas causales identific\u00f3 un cambio de novo en su regi\u00f3n promotora que present\u00f3 una tendencia a estar asociado con el c\u00e1ncer de mama. Un snp en 3\u00c2\u00bfutr del gen e2f1, por su parte, mostr\u00f3 asociaci\u00f3n con la enfermedad y se apunt\u00f3 a un efecto del mismo en el sistema de regulaci\u00f3n por micrornas. Este trabajo, por tanto, ha permitido poner de manifiesto una mayor implicaci\u00f3n de los snps reguladores en la caracterizaci\u00f3n de patolog\u00edas complejas como es el c\u00e1ncer de mama.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>B\u00fasqueda de genes de susceptibilidad a c\u00e1ncer de mama espor\u00e1dico: estudios de asociaci\u00f3n y estudios funcionales<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 B\u00fasqueda de genes de susceptibilidad a c\u00e1ncer de mama espor\u00e1dico: estudios de asociaci\u00f3n y estudios funcionales <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Eva Barroso Ramos <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 14\/07\/2009<\/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>Gloria Ribas Despuig<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jose Fernandez piqueras <\/li>\n<li>marina Pollan santamaria (vocal)<\/li>\n<li>Ana Lluch hernandez (vocal)<\/li>\n<li>Jos\u00e9 ignacio Arias p\u00e9rez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Eva Barroso Ramos El c\u00e1ncer de mama espor\u00e1dico, que representa hasta el 95% de los casos con [&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 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