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tesis de grado
Publicado 2022
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El Adenocarcinoma colorrectal o Cáncer Colorrectal (CCR) se clasifica como la tercera neoplasia más común y la segunda causa principal de mortalidad a nivel mundial. En este estudio exploramos mediante un análisis bioinformático el impacto de mutaciones y expresión de los genes SAMHD1, GNL1, POLE, MRE11 y ASXL2 como potenciales mini impulsores en Adenocarcinoma Colorrectal. Este estudio es netamente documental, experimental, exploratorio e informativo. Utilizamos 3 bases de datos de importancia molecular y bioinformática: COSMIC con 9490 muestras, TCGA con 461 y cBioportal con 1351. Utilizamos como principales herramientas de análisis los portales web del cBioportal, GEO, GEO2R, UALCAN y el lenguaje de programación The R Project for Statistical Computing para el análisis de enriquecimiento por vías metabólicas. Tres de los 5 genes evaluados (GNL1, POLE y MRE11) mostraron sobr...
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artículo
Background & Aims: In Latin America, genetic testing for Lynch syndrome (LS) has been partially implemented. Traditionally, LS diagnosis relied on the Amsterdam criteria and Bethesda guidelines, collectively known as traditional screening (TS). However, TS may miss up to 68% of LS cases. To improve detection rates, universal tumor screening (UTS) has been introduced. UTS involves screening all newly diagnosed patients with colorectal cancer for molecular markers to more effectively identify LS cases. Methods: Clinical and molecular data on 1684 patients with colorectal cancer, collected between 1999 and 2020, were provided by 24 Latin American genetic cancer registries and centers. Germline genetic testing was not consistently performed across all cases. Results: LS screening strategies were available for 72% (1209/1684) of cases, with germline testing conducted in one-quarter (304/1209)...