{"id":22051,"date":"2018-03-09T09:12:04","date_gmt":"2018-03-09T09:12:04","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-mutacional-de-los-genes-brca1-y-brca2-en-mujeres-con-cancer-de-mama-precoz\/"},"modified":"2018-03-09T09:12:04","modified_gmt":"2018-03-09T09:12:04","slug":"analisis-mutacional-de-los-genes-brca1-y-brca2-en-mujeres-con-cancer-de-mama-precoz","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-mutacional-de-los-genes-brca1-y-brca2-en-mujeres-con-cancer-de-mama-precoz\/","title":{"rendered":"An\u00e1lisis mutacional de los genes brca1 y brca2 en mujeres con c\u00e1ncer de mama precoz"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Jos\u00e9 Ignacio Mart\u00ednez Ferrandis <\/strong><\/h2>\n<p>Los genes brca1 y brca2 confieren una alta susceptibilidad al c\u00e1ncer de mama, explicando entre el 30-40% del c\u00e1ncer de mama familiar. Adem\u00e1s estos genes han sido relacionados con el c\u00e1ncer de mama precoz. Se ha realizado un cribano de mutaciones en los genes brca1 y 2 es una muestra de 124 mujeres con c\u00e1ncer de mama diagnosticados antes de los 41 a\u00f1os, donde la frecuencia de mutaciones brca encontrada fue relativamente baja (5,6%), en consecuencia, tales mutaciones tienen una contribuci\u00f3n limitada al c\u00e1ncer de mama precoz en poblaci\u00f3n espa\u00f1ola. El riesgo de una mujer con c\u00e1ncer de mama precoz de ser portadora de mutaci\u00f3n en brca1 o brca2 aumentaba en las mujeres con una familia de primer grado con c\u00e1ncer de mama, un familiar var\u00f3n con c\u00e1ncer de mama o un familiar con c\u00e1ncer de ovario. Mujeres con tales caracter\u00edsticas pueden beneficiarse especialmente del test gen\u00e9tico. Adem\u00e1s, la detecci\u00f3n de mutaciones m\u00e1s prevalente en poblaci\u00f3n espa\u00f1ola (tales como y3006x y 924del5 detectadas en este trabajo) puede facilitar el cribado posterior de estos genes en mujeres de nuestra poblaci\u00f3n.  se ha identificado polimorfismos en genes de baja penetrancia que podr\u00edan estar relacionados con el c\u00e1ncer de mama precoz, y a diferencia de lo que ocurre con los genes de alta penetrancia, como brca1 y brca2, estas variantes parecen estar relacionadas con el c\u00e1ncer de mama espor\u00e1dico. El estudio de estos polimorfismos puede permitir establecer mejor los rupos de riesgo de c\u00e1ncer de mama a la hora de aplicar medidas preventivas, lo que supondr\u00eda un mejor rendimiento en el coste-beneficio de los recursos dedicados para los servicios de salud a la prevenci\u00f3n de esta enfermedad.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis mutacional de los genes brca1 y brca2 en mujeres con c\u00e1ncer de mama precoz<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis mutacional de los genes brca1 y brca2 en mujeres con c\u00e1ncer de mama precoz <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Jos\u00e9 Ignacio Mart\u00ednez Ferrandis <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/03\/2003<\/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> Armengod Gonz\u00e1lez M. Eugenia<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: angel Mar\u00eda Carracedo alvarez <\/li>\n<li>eulalia Alonso iglesias (vocal)<\/li>\n<li>montserrat Baiget bast\u00fas (vocal)<\/li>\n<li>amparo Latorres castillo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Jos\u00e9 Ignacio Mart\u00ednez Ferrandis Los genes brca1 y brca2 confieren una alta susceptibilidad al c\u00e1ncer de mama, [&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":[1],"tags":[66157,2945,12202,37233,66156,13786],"class_list":["post-22051","post","type-post","status-publish","format-standard","hentry","category-sin-categoria","tag-amparo-latorres-castillo","tag-angel-maria-carracedo-alvarez","tag-armengod-gonzalez-m-eugenia","tag-eulalia-alonso-iglesias","tag-jose-ignacio-Martinez-ferrandis","tag-montserrat-baiget-bastus"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/22051","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=22051"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/22051\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=22051"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=22051"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=22051"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}