Análisis genético en APC, KRAS y TP53 en pacientes con cáncer de estómago y colon

Resumen Antecedentes El cancer de estomago (CE) y colorrectal (CCR) presentan altas tasas de incidencia y mortalidad en la poblacion mundial. Estas 2 neoplasias se caracterizan por tener una gran heterogeneidad genetica. Hasta el momento, no existen estudios moleculares que analicen las mutaciones en los genes APC, KRAS y TP53 en poblacion colombiana/latinoamericana. Objetivo Analizar mutaciones en los genes APC, KRAS y TP53 en 59 pacientes con CE y CCR mediante el secuenciamiento directo. Pacientes y metodos Se estudio a 29 pacientes con CE y 30 con CCR. Se realizo un analisis de mutaciones en los 3 genes por las tecnicas de reaccion en cadena de la polimerasa y secuenciamiento directo. Resultados Se encontro una frecuencia total de mutaciones del 30.5%. El gen mas frecuentemente mutado fue APC (15.3%), seguido de KRAS (10.1%) y TP53 (5.1%). Las muestras de CCR presentaron una frecuencia de mutaciones del 46,7% y las CE del 13.3% (p = 0.006). No se encontraron mutaciones simultaneas en los 3 genes. En solo 6 muestras de tumores (10%) se detectaron mutaciones en 2 genes. Adicionalmente, se obtuvo una alta frecuencia de polimorfismos en ambos tipos de cancer, el mas comun fue el rs41115 localizado en el gen APC. Conclusion Las mutaciones en los genes APC, KRAS y TP53 fueron mas comunes en el CCR que en el CE; nuestros resultados indican la existencia de diferentes vias geneticas en la carcinogenesis del CE y del CCR, y revelan una frecuencia de mutaciones particular en los pacientes colombianos estudiados, que podria estar influida por factores ambientales y etnicos, y el estilo de vida de esta poblacion.

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