{"id":95994,"date":"2018-03-11T10:16:08","date_gmt":"2018-03-11T10:16:08","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/development-and-validation-of-a-predictive-model-for-identification-of-mlh1-and-msh2-mutation-carriers-in-lynch-syndrome\/"},"modified":"2018-03-11T10:16:08","modified_gmt":"2018-03-11T10:16:08","slug":"development-and-validation-of-a-predictive-model-for-identification-of-mlh1-and-msh2-mutation-carriers-in-lynch-syndrome","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/oncologia-clinica\/development-and-validation-of-a-predictive-model-for-identification-of-mlh1-and-msh2-mutation-carriers-in-lynch-syndrome\/","title":{"rendered":"Development and validation of a predictive model for identification of mlh1 and msh2 mutation carriers in lynch syndrome"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Judith Balma\u00f1a <\/strong><\/h2>\n<p>El s\u00edndrome de lynch es la principal predisposici\u00f3n gen\u00e9tica al c\u00e1ncer de colon y endometrio y est\u00e1 causado mayoritariamente por mutaciones en los genes mlh1 y msh2. La identificaci\u00f3n de este s\u00edndrome se ha venido realizando cl\u00e1sicamente a trav\u00e9s del cumplimiento de unos criterios cl\u00ednicos o la realizaci\u00f3n de un cribado molecular sobre el tumor. Ambas estrategias tienen limitaciones en el momento de su aplicaci\u00f3n en la cl\u00ednica y no cuantifican el riesgo de ser portador de una mutaci\u00f3n. El primer objetivo de esta tesis doctoral es la identificaci\u00f3n de predictores cl\u00ednicos asociados con una mutaci\u00f3n en los genes mlh1 o msh2 y el desarrollo y validaci\u00f3n de un modelo predictivo (modelo premm1,2), de f\u00e1cil aplicaci\u00f3n en la cl\u00ednica. El segundo objetivo es la validaci\u00f3n y comparaci\u00f3n del modelo premm1,2 con el modelo mmrpredict, los criterios cl\u00ednicos, y el cribado molecular en una cohorte espa\u00f1ola de individuos con c\u00e1ncer colorrectal de base poblacional (cohorte epicolon). Los trabajos realizados permiten concluir que la historia personal y familiar de un individuo puede predecir de forma precisa el resultado del estudio gen\u00e9tico del s\u00edndrome de lynch; que el modelo premm1,2 es una herramienta \u00fatil y de f\u00e1cil aplicaci\u00f3n en la cl\u00ednica para identificar portadores de mutaci\u00f3n de mlh1 y msh2; tanto este modelo como el modelo mmrpredict tienen una capacidad discriminatoria similar a los criterios cl\u00ednicos de bethesda, aunque ambos modelos superan a los criterios cuando se combinan con los resultados del cribado molecular; finalmente, que el modelo premm1,2 ofrece una valoraci\u00f3n cuantitativa del riesgo gen\u00e9tico que puede ser \u00fatil para decidir a qu\u00e9 personas referir a una unidad especializada, realizar un estudio molecular en el tumor o el estudio gen\u00e9tico en l\u00ednea germinal<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Development and validation of a predictive model for identification of mlh1 and msh2 mutation carriers in lynch syndrome<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Development and validation of a predictive model for identification of mlh1 and msh2 mutation carriers in lynch syndrome <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Judith Balma\u00f1a <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 18\/09\/2009<\/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>Joan Brunet Vidal<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jordi Giralt l\u00f3pez de sagredo <\/li>\n<li>pedro Perez segura (vocal)<\/li>\n<li>  (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Judith Balma\u00f1a El s\u00edndrome de lynch es la principal predisposici\u00f3n gen\u00e9tica al c\u00e1ncer de colon y endometrio [&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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