{"id":102722,"date":"2010-09-07T00:00:00","date_gmt":"2010-09-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-en-mujeres-con-cancer-de-mama-ovario-hereditario-residentes-en-la-comunidad-autonoma-del-paa%c2%ads-vasco\/"},"modified":"2010-09-07T00:00:00","modified_gmt":"2010-09-07T00:00:00","slug":"estudio-genetico-en-mujeres-con-cancer-de-mama-ovario-hereditario-residentes-en-la-comunidad-autonoma-del-paa%c2%ads-vasco","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica\/estudio-genetico-en-mujeres-con-cancer-de-mama-ovario-hereditario-residentes-en-la-comunidad-autonoma-del-paa%c2%ads-vasco\/","title":{"rendered":"Estudio gen\u00e9tico en mujeres con c\u00e1ncer de mama\/ovario hereditario residentes en la comunidad aut\u00f3noma del pa\u00eds vasco"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Elena Beristain Mendizabal <\/strong><\/h2>\n<p>El c\u00e1ncer de mama es la neoplasia m\u00e1s com\u00fan y la primera causa de mortalidad por c\u00e1ncer en la mujer en todo el mundo. La mayor\u00eda de ellos son espor\u00e1dicos, pero del 5 al 10% se consideran hereditarios, y se deben a la transmisi\u00f3n por l\u00ednea germinal de mutaciones en genes de herencia autos\u00f3mica dominante con penetrancia elevada, como son los genes brca1 y brca2, y otros a\u00fan por descubrir. El c\u00e1ncer hereditario est\u00e1 asociado a otros tipos de c\u00e1ncer, como el de ovario, y aparecen m\u00faltiples generaciones afectadas, de ah\u00ed la importancia de su diferenciaci\u00f3n. los genes brca1 y brca2, y el ex\u00f3n 10 del gen chek2, han sido caracterizados molecularmente en 274 pacientes, que cumpl\u00edan criterios de inclusi\u00f3n de alto riesgo para el s\u00edndrome de c\u00e1ncer de mama y ovario hereditario; en 115 familiares de aquellos pacientes con alg\u00fan tipo de variante, y en 132 mujeres de la poblaci\u00f3n general que son tratadas como poblaci\u00f3n control. El an\u00e1lisis molecular de estos genes se llev\u00f3 a cabo mediante la t\u00e9cnica de cribado csge y posterior secuenciaci\u00f3n de los fragmentos alterados. Adem\u00e1s se realiz\u00f3 la t\u00e9cnica mlpa para la b\u00fasqueda de grandes reordenamientos, y otra serie de t\u00e9cnicas moleculares necesarias para determinar la patogenicidad o neutralidad de algunas de las variantes encontradas. la frecuencia de mutaciones claramente patol\u00f3gicas en estos genes halladas en nuestra poblaci\u00f3n a estudio es del 10%, no habi\u00e9ndose encontrado ninguna mutaci\u00f3n de efecto fundador, adem\u00e1s de encontrarse otras variantes de efecto neutro o desconocido, siendo algunas de ellas diferentes a las descritas en otras poblaciones.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio gen\u00e9tico en mujeres con c\u00e1ncer de mama\/ovario hereditario residentes en la comunidad aut\u00f3noma del pa\u00eds vasco<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio gen\u00e9tico en mujeres con c\u00e1ncer de mama\/ovario hereditario residentes en la comunidad aut\u00f3noma del pa\u00eds vasco <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Elena Beristain Mendizabal <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 09\/07\/2010<\/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>Mar\u00eda  Isabel Tejada Minguez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Mar\u00eda  de los angeles Martinez de pancorbo gomez <\/li>\n<li>mercedes Dur\u00e1n dom\u00ednguez (vocal)<\/li>\n<li>joaqu\u00edn Rueda puente (vocal)<\/li>\n<li>Javier Ben\u00edtez ortiz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Elena Beristain Mendizabal El c\u00e1ncer de mama es la neoplasia m\u00e1s com\u00fan y la primera causa de [&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":[962,12909],"tags":[208273,7788,19433,13208,187936,208274],"class_list":["post-102722","post","type-post","status-publish","format-standard","hentry","category-genetica","category-pais-vasco-euskal-herriko-unibertsitatea","tag-elena-beristain-mendizabal","tag-javier-benitez-ortiz","tag-joaquin-rueda-puente","tag-maria-de-los-angeles-Martinez-de-pancorbo-gomez","tag-maria-isabel-tejada-minguez","tag-mercedes-duran-dominguez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/102722","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=102722"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/102722\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=102722"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=102722"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=102722"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}