{"id":81251,"date":"2018-03-10T00:05:06","date_gmt":"2018-03-10T00:05:06","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/deteccion-de-mutaciones-en-los-genes-brca-1-y-brca-2\/"},"modified":"2018-03-10T00:05:06","modified_gmt":"2018-03-10T00:05:06","slug":"deteccion-de-mutaciones-en-los-genes-brca-1-y-brca-2","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/deteccion-de-mutaciones-en-los-genes-brca-1-y-brca-2\/","title":{"rendered":"Detecci\u00f3n de mutaciones en los genes brca-1 y brca-2."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Cusid\u00f3 Gimferrer M. Teresa <\/strong><\/h2>\n<p>El c\u00e1ncer de mama es el c\u00e1ncer m\u00e1s com\u00fan en las mujeres y su principal causa de muerte. El c\u00e1ncer de ovario es la cuarta causa de muerte por c\u00e1ncer. los factores hereditarios son decisivos en un 5-10% de los c\u00e1nceres de mama, llegando a un 30% si s\u00f3lo valoramos los que aprecen por debajo de los 30 a\u00f1os. Existen diferentes s\u00edndromes asociados siendo el sd. Del c\u00e1ncer de mama-ovario familiar asociado a mutaciones en brca-1 y 2 el m\u00e1s frecuente.  el objetivo general es la detecci\u00f3n de mutaciones en los exones 11 de los genes brca-1 y braca-2 en las pacientes de riesgo seleccionadas. Los objetivos espec\u00edficos son:  1- identificaci\u00f3n de mutaciones en los exones 11 de brca-1 y 2, descripci\u00f3n del tipo de mutaciones y an\u00e1lisis informatizados de su implicaci\u00f3n.  2- an\u00e1lisis de los tipos histol\u00f3gicos de los tumores de las pacientes protadoras de mutaci\u00f3n y comparaci\u00f3n con el grupo de pacientes de riesgo.  3- puesta a punto de una t\u00e9cnica de an\u00e1lisis de mutaciones.  criterios de inclusi\u00f3n de las pacientes:  1- afectas de c\u00e1ncer de mama y 2 \u00f3 m\u00e1s antecedentes familiares de c\u00e1ncer de mama y\/u ovario.  2- afectas de c\u00e1ncer de mama e historia familiar de c\u00e1ncer de mama y\/u ovario y\/o pr\u00f3stata.  3- afectas de c\u00e1ncer de mama e historia familiar de neoplasias ginecol\u00f3gicas.  4- afectas de c\u00e1ncer de mama de origen judio ashkenazy.  5- afectas de c\u00e1ncer de mama y edad inferior a 40 a\u00f1os.  6- afectas de c\u00e1ncer de mama bilateral.  tambi\u00e9n se dispon\u00eda de la sangre de un grupo control de mujeres sanas que no presentaran ning\u00fan tipo de c\u00e1ncer en tres generaciones.  brca-1  se ha hallado migraci\u00f3n diferencial en 5 casos, lo que representa una incidencia de mutaciones del 8,3%. Se han hallado 6 polimorfismos que corresponden a 3 polimorfismos que corresponden a 3 polimorfismos repetidos lo que representa un 10% del total. Las mutaciones han sido: ninguna de las mutacioens ni de los polimorfismo hab\u00eda sido,<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Detecci\u00f3n de mutaciones en los genes brca-1 y brca-2.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Detecci\u00f3n de mutaciones en los genes brca-1 y brca-2. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Cusid\u00f3 Gimferrer M. Teresa <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 16\/11\/1999<\/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>Jordi Xercavins Montosa<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: lLuis Cabero roure <\/li>\n<li>Santiago Dexeus trias de bes (vocal)<\/li>\n<li>Jes\u00fas Gonz\u00e1lez bosquet (vocal)<\/li>\n<li>Jes\u00fas Gonz\u00e1lez merlo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Cusid\u00f3 Gimferrer M. Teresa El c\u00e1ncer de mama es el c\u00e1ncer m\u00e1s com\u00fan en las mujeres y [&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":[155,9,135,347],"tags":[173468,173469,102,10554,19759,1265],"class_list":["post-81251","post","type-post","status-publish","format-standard","hentry","category-ciencias-clinicas","category-ciencias-medicas","category-ginecologia","category-oncologia-clinica","tag-cusido-gimferrer-m-teresa","tag-jesus-gonzalez-bosquet","tag-jesus-gonzalez-merlo","tag-jordi-xercavins-montosa","tag-lluis-cabero-roure","tag-santiago-dexeus-trias-de-bes"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/81251","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=81251"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/81251\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=81251"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=81251"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=81251"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}