{"id":36574,"date":"1998-01-01T00:00:00","date_gmt":"1998-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/implicaciones-del-gen-brca2-y-su-region-cromosomica-en-el-cancer-de-mama\/"},"modified":"1998-01-01T00:00:00","modified_gmt":"1998-01-01T00:00:00","slug":"implicaciones-del-gen-brca2-y-su-region-cromosomica-en-el-cancer-de-mama","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/implicaciones-del-gen-brca2-y-su-region-cromosomica-en-el-cancer-de-mama\/","title":{"rendered":"Implicaciones del gen brca2 y su region cromosomica en el cancer de mama."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Blanca Gomendio Parre\u00f1o <\/strong><\/h2>\n<p>El c\u00e1ncer de mama es la neoplasia femenina m\u00e1s frecuente en pa\u00edses desarrollados. Se estima que un 5-10% de dichos c\u00e1nceres son de car\u00e1cter hereditario, y que pueden estar asociados a alteraciones de genes de predisposici\u00f3n como brca1 y brca2. El gen brca2 se localiza en el cromosoma 13q12-13, est\u00e1 compuesto por 26 exones codificantes, y consta de 11.385 pb. Codifica una prote\u00edna de 3.418 amino\u00e1cidos, cuya funci\u00f3n es a\u00fan desconocida, aunque se piensa que est\u00e1 relacionada con el mantenimiento de la estabilidad gen\u00f3mica. Mutaciones en l\u00ednea germinal en el gen brca2 predisponen a desarrollar c\u00e1ncer de mama familiar, tanto en mujer como en var\u00f3n, y c\u00e1ncer de ovario. Sin embargo, su implicaci\u00f3n en los c\u00e1nceres espor\u00e1dicos de mama todav\u00eda no est\u00e1 completamente aclarado.  el presente trabajo se llev\u00f3 a cabo para determinar las alteraciones del gen brca2 y su regi\u00f3n cromos\u00f3mica, 13q12-13, en enfermas con c\u00e1ncer de mama. Hemos estudiado 95 enfermas sin historia familiar, que consideramos como casos espor\u00e1dicos, y 35 familias con 2 o m\u00e1s casos de c\u00e1ncer de mama (media 2.8 casos y rango 2-7 casos).  el estudio de p\u00e9rdida de heterozigosidad en la regi\u00f3n 13q12-13, se realiz\u00f3 con adn de tejido normal y tumoral de 95 pacientes, observ\u00e1ndose loh en un 50% de los casos.  paralelamente, se realiz\u00f3 el estudio de loh en la regi\u00f3n del gen brca1 (17q21). Al comparar la presencia de loh con par\u00e1metros cl\u00ednico-patol\u00f3gicos, en cada una de las regiones independientemente, y en las dos regiones conjuntamente, observamos que exist\u00eda correlaci\u00f3n entre presencia de loh en ambas regiones simult\u00e1neamente con 5 par\u00e1metros, y que \u00e9sta desaparec\u00eda cuando la p\u00e9rdida al\u00e9lica se produc\u00eda solamente en una de las regiones.  detectamos un desequilibrio al\u00e9lico con los loci d13s260 y d13s310 flanqueantes al gen, que se manifestaba con un aumento de homozigotos, al comparar las enfermas con una poblaci\u00f3n control. Esta ine<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Implicaciones del gen brca2 y su region cromosomica en el cancer de mama.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Implicaciones del gen brca2 y su region cromosomica en el cancer de mama. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Blanca Gomendio Parre\u00f1o <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1998<\/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>Felix Bonilla Velasco<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Mar\u00eda Segovia De Arana <\/li>\n<li>Antonio Colmenarejo Rubio (vocal)<\/li>\n<li>Juan  Emilio Feliu Albi\u00f1ana (vocal)<\/li>\n<li>Juan  Jos\u00e9 Teller\u00eda Orriols (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Blanca Gomendio Parre\u00f1o El c\u00e1ncer de mama es la neoplasia femenina m\u00e1s frecuente en pa\u00edses desarrollados. Se [&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":[212,35,2820],"tags":[29669,96725,64701,5535,14572,87776],"class_list":["post-36574","post","type-post","status-publish","format-standard","hentry","category-biologia-humana","category-ciencias-de-la-vida","category-genetica-humana","tag-antonio-colmenarejo-rubio","tag-blanca-gomendio-parreno","tag-felix-bonilla-velasco","tag-jose-maria-segovia-de-arana","tag-juan-emilio-feliu-albinana","tag-juan-jose-telleria-orriols"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/36574","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=36574"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/36574\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=36574"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=36574"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=36574"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}