{"id":57243,"date":"2018-03-09T22:45:02","date_gmt":"2018-03-09T22:45:02","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/alteraciones-de-la-via-ras-faf-en-cancer-gastrointestinal-con-defectos-de-reparacion-genomica\/"},"modified":"2018-03-09T22:45:02","modified_gmt":"2018-03-09T22:45:02","slug":"alteraciones-de-la-via-ras-faf-en-cancer-gastrointestinal-con-defectos-de-reparacion-genomica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/barcelona\/alteraciones-de-la-via-ras-faf-en-cancer-gastrointestinal-con-defectos-de-reparacion-genomica\/","title":{"rendered":"Alteraciones de la via ras-faf en cancer gastrointestinal con defectos de reparaci\u00f3n genomica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Enric Domingo Villanueva <\/strong><\/h2>\n<p>La v\u00eda ras-raf-mapk activa la proliferaci\u00f3n celular y en c\u00e1ncer suele presentar mutaciones en los genes que codifican par ras (kras, hras y nras) y en uno de los genes que codifican para raf (braf). Adem\u00e1s, las mutaciones de ras y raf son eventos alternativos ya que nunca se dan a la vez. en c\u00e1ncer colorectal (ccr) la mutaci\u00f3n puntual de braf  v600e se asocia significativamente a los casos con inestabilidad de microsat\u00e9lites (msi), que suelen presentar mutaciones por inserci\u00f3n\/deleci\u00f3n en microsat\u00e9lites. En esta tesis hemos querido determinar posibles asociaciones de esta mutaci\u00f3n que permitan explicar la alta frecuencia de esta mutaci\u00f3n en este tipo de tumores. as\u00ed, en c\u00e1ncer g\u00e1strico, que en msi presenta un patr\u00f3n mutacional muy parecido al colorectal, no hemos detectado mutaciones de braf, ni en casos estables (mss) ni en msi, mientras que si que hemos confirmado la asociaci\u00f3n de esta mutaci\u00f3n a msi en ccr. Sorprendentemente, las mutaciones de kras en c\u00e1ncer g\u00e1strico tambi\u00e9n se asocian significativamente a msi, mientras que en ccr se encuentran en ambos fenotipos. Por otro lado, en ccr msi espor\u00e1dico, que suele darse por la hiperventilaci\u00f3n de mlh-1, no hemos encontrado ninguna asociaci\u00f3n de braf-v600e con mutaciones de los genes metilaci\u00f3n a los genes p16, p14, rassf1a, apc, mgmt y thbs1 hemos asociado braf-v600e a un estado de hiperventilaci\u00f3n gen\u00f3mica. Por otro lado , braf no se encuentra asociado a ninguna caracter\u00edstica clinicopatol\u00f3gica a excepci\u00f3n de la localizaci\u00f3n, ya que braf-v600e se encuentra en los casos proximales.  por otro lado, tambi\u00e9n hemos analizado casos de ccr de pacientes de hnpcc, que tienen msi por mutaciones germinales en vez de por metilaci\u00f3n. no hemos encontrado ninguna mutaci\u00f3n v600e de braf en estos tumores, aunque tengan mutaciones germinales en mlh1, msh2 o msh6 o cumplan criterios cl\u00ednicos estrictos. Esto confirma que v600e no se da especificamente en los casos msi sino en lso casos con hiperm<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Alteraciones de la via ras-faf en cancer gastrointestinal con defectos de reparaci\u00f3n genomica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Alteraciones de la via ras-faf en cancer gastrointestinal con defectos de reparaci\u00f3n genomica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Enric Domingo Villanueva <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/02\/2007<\/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>Simo Schwartz Navarro<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: joan Gil santano <\/li>\n<li>gabriel Gil g\u00f3mez (vocal)<\/li>\n<li>ram\u00f3n Mangues bafalluy (vocal)<\/li>\n<li>diego Arango del corro (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Enric Domingo Villanueva La v\u00eda ras-raf-mapk activa la proliferaci\u00f3n celular y en c\u00e1ncer suele presentar mutaciones en [&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 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