{"id":63698,"date":"2018-03-09T22:51:40","date_gmt":"2018-03-09T22:51:40","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/cancer-de-mama-y-ovario-hereditario-estudio-molecular-de-los-genes-brca1-y-brca2-efecto-fundador-de-las-mutaciones-mas-frecuentes-en-castillay-leon\/"},"modified":"2018-03-09T22:51:40","modified_gmt":"2018-03-09T22:51:40","slug":"cancer-de-mama-y-ovario-hereditario-estudio-molecular-de-los-genes-brca1-y-brca2-efecto-fundador-de-las-mutaciones-mas-frecuentes-en-castillay-leon","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica-clinica\/cancer-de-mama-y-ovario-hereditario-estudio-molecular-de-los-genes-brca1-y-brca2-efecto-fundador-de-las-mutaciones-mas-frecuentes-en-castillay-leon\/","title":{"rendered":"C\u00e1ncer de mama y ovario hereditario. estudio molecular de los genes brca1 y brca2. efecto fundador de las mutaciones mas frecuentes en castillay le\u00f3n."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Infante Sanz Mar\u00eda Del Mar <\/strong><\/h2>\n<p>Objetivos 1. Optimizaci\u00f3n de la t\u00e9cnica de an\u00e1lisis mutacional ha-cae (heterod\u00faplex an\u00e1lisis by capillary array electrophoresis) mediante la utilizaci\u00f3n de un nuevo pol\u00edmero (pop(tm) conformation analysis polymer), para incrementar la sensibilidad y fiabilidad de la misma y reducir el tiempo de estudio en cada paciente.  2. Rastreo mutacional de los genes brca1 y brca2 en pacientes con riesgo moderado \/ alto de padecer cmoh procedentes de la zona este de castilla y le\u00f3n.  2.1. Caracterizaci\u00f3n del espectro de mutaciones patog\u00e9nicas (frameshift, nonsense, splicing y missense) de brca1 y brca2 y evaluaci\u00f3n de la frecuencia de las mismas, incluyendo el estudio de grandes reestructuraciones en brca1 y brca2. 2.2. An\u00e1lisis del procesamiento del arn mensajero de las variantes de la secuencia de efecto fisiol\u00f3gico desconocido mediante rt-pcr para establecer su posible implicaci\u00f3n en la enfermedad a trav\u00e9s de la alteraci\u00f3n del mecanismo de splicing. Identificaci\u00f3n de nuevas mutaciones de splicing.  2.3. Correlaci\u00f3n genotipo-fenotipo. 3. Identificaci\u00f3n y establecimiento del origen de las mutaciones recurrentes de nuestra poblaci\u00f3n: b\u00fasqueda de un efecto fundador. Comparativa  de las caracter\u00edsticas cl\u00ednicas de las familias portadoras. 4. Dise\u00f1o de una estrategia de cribaje mutacional m\u00e1s eficaz en cuanto a coste econ\u00f3mico y reducci\u00f3n del tiempo final de diagn\u00f3stico.  c0nclusiones 1. La t\u00e9cnica de detecci\u00f3n de mutaciones ha-cae es simple, r\u00e1pida, sensible y espec\u00edfica. Su sensibilidad se ha incrementado con el empleo del nuevo pol\u00edmero nativo cap.  2. Se han detectado un total de 118 variantes de adn diferentes (53 en brca1 y 65 en brca2) en 308 familias de riesgo moderado\/ alto de cmoh. De ellas, 25 son mutaciones de nueva descripci\u00f3n, lo cual representa el 20,3% de las alteraciones encontradas. 3. Se han identificado 35 mutaciones causantes de enfermedad diferentes (14 en brca1 y 21 en brca2); de las cuales 7 son de splicing, 3 no<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>C\u00e1ncer de mama y ovario hereditario. estudio molecular de los genes brca1 y brca2. efecto fundador de las mutaciones mas frecuentes en castillay le\u00f3n.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 C\u00e1ncer de mama y ovario hereditario. estudio molecular de los genes brca1 y brca2. efecto fundador de las mutaciones mas frecuentes en castillay le\u00f3n. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Infante Sanz Mar\u00eda Del Mar <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Valladolid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 31\/03\/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> Velasco Sampedro Eladio Andr\u00e9s<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: alfredo Blanco quiros <\/li>\n<li>Jos\u00e9 Fernandez piqueras (vocal)<\/li>\n<li> Tejada m\u00ednguez Mar\u00eda isabel (vocal)<\/li>\n<li>\u00c1lvaro Mar\u00eda Sanz rubiales (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Infante Sanz Mar\u00eda Del Mar Objetivos 1. Optimizaci\u00f3n de la t\u00e9cnica de an\u00e1lisis mutacional ha-cae (heterod\u00faplex an\u00e1lisis [&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":[11771,12451],"tags":[15289,54306,140637,14602,140639,140638],"class_list":["post-63698","post","type-post","status-publish","format-standard","hentry","category-genetica-clinica","category-valladolid","tag-alfredo-blanco-quiros","tag-alvaro-maria-sanz-rubiales","tag-infante-sanz-maria-del-mar","tag-jose-fernandez-piqueras","tag-tejada-minguez-maria-isabel","tag-velasco-sampedro-eladio-andres"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/63698","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=63698"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/63698\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=63698"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=63698"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=63698"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}