{"id":68685,"date":"2018-03-09T23:13:01","date_gmt":"2018-03-09T23:13:01","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-molecular-de-los-genes-mlh1-y-msh2-en-familias-espanolas-con-cancer-de-colon-hereditario-no-poliposico-hnpcc\/"},"modified":"2018-03-09T23:13:01","modified_gmt":"2018-03-09T23:13:01","slug":"estudio-molecular-de-los-genes-mlh1-y-msh2-en-familias-espanolas-con-cancer-de-colon-hereditario-no-poliposico-hnpcc","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-molecular-de-los-genes-mlh1-y-msh2-en-familias-espanolas-con-cancer-de-colon-hereditario-no-poliposico-hnpcc\/","title":{"rendered":"Estudio molecular de los genes mlh1 y msh2 en familias espa\u00f1olas con c\u00e1ncer de colon hereditario no polip\u00f3sico (hnpcc)"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Javier Godino Gomez <\/strong><\/h2>\n<p>Para la realizaci\u00f3n de esta tesis se seleccionaron 82 familias espa\u00f1olas sospechosas de padecer el s\u00edndrome de c\u00e1ncer hereditario no polip\u00f3sico (hnpcc) en total se estudiaron 239 pacientes. La base molecular de este s\u00edndrome son defectos en la reparaci\u00f3n de errores que se producen durante la replicaci\u00f3n del adn.  en un 90% de los casos es debido a mutaciones en los genes mlh1 o msh2.  estudiamos en estas familias la inestabilidad de microsat\u00e9lites msi por pcr y secuenciaci\u00f3n y la inmunohistoqu\u00edmica ih como pruebas de identificaci\u00f3n de familias portadoras de mutaci\u00f3n en mlh1 o msh2. A la vista de nuestros resultados proponemos la msi como prueba inicial de selecci\u00f3n y la ih como prueba secundaria para determinar cual de los 2 genes es probable que est\u00e9 mutado.  estudiamos la presencia de mutaciones germinales en estos 2 genes por pcr+dgge, encontramos 12 mutaciones diferentes en 15 familias en mlh1 y 10 mutaciones diferentes en 10 familias en msh2, la mayor\u00eda de estas mutaciones (88%) se encuentran en familias que cumplen los criterios de amsterdam i o ii, solo un 12% se encuentran en familias con menor agregaci\u00f3n familiar. En el 54% de las familias que cumpl\u00edan los criterios de amsterdam i o ii se encontr\u00f3 mutaci\u00f3n frente a solo un 7% en familias que no los cumplen. Las mutaciones en msh2 fueron mayoritariamentes delecciones con alteraci\u00f3n del marco de lectura y producci\u00f3n de una proteina truncada. En mlh1 en cambio predomian los cambios de nucle\u00f3tidos con generaci\u00f3n de un colon de parada o bien de un cambio de amino\u00e1cido, la patogenicidad de estos cambios de amino\u00e1cido se estudia por loh y segregaci\u00f3n con la enfermedad.  no se observan relaciones genotipo-fenotipo claras aunque la presencia de mutaciones en msh2 se asoci\u00f3 a una menor edad media de diagn\u00f3stico de los tumores (48 a\u00f1os frente a 50.4 en portadores de mutaci\u00f3n en mlh1) y m\u00e1s proporci\u00f3n de tumores extracol\u00f3nicos (42% frente a 34%) en ning\u00fa<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio molecular de los genes mlh1 y msh2 en familias espa\u00f1olas con c\u00e1ncer de colon hereditario no polip\u00f3sico (hnpcc)<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio molecular de los genes mlh1 y msh2 en familias espa\u00f1olas con c\u00e1ncer de colon hereditario no polip\u00f3sico (hnpcc) <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Javier Godino Gomez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 28\/06\/2004<\/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>Trinidad Caldes Llopis<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Manuel roman Benito de las heras <\/li>\n<li>la Cueva javier (vocal)<\/li>\n<li>gabriel Capella munar (vocal)<\/li>\n<li>Miguel de la Hoya mantec\u00f3n (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Javier Godino Gomez Para la realizaci\u00f3n de esta tesis se seleccionaron 82 familias espa\u00f1olas sospechosas de padecer [&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":[33983,150742,117628,5427,90900,66661],"class_list":["post-68685","post","type-post","status-publish","format-standard","hentry","category-sin-categoria","tag-gabriel-capella-munar","tag-javier-godino-gomez","tag-la-cueva-javier","tag-manuel-roman-benito-de-las-heras","tag-miguel-de-la-hoya-mantecon","tag-trinidad-caldes-llopis"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/68685","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=68685"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/68685\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=68685"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=68685"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=68685"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}