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• W2073205188 abstract "El cáncer de estómago (CE) y colorrectal (CCR) presentan altas tasas de incidencia y mortalidad en la población mundial. Estas 2 neoplasias se caracterizan por tener una gran heterogeneidad genética. Hasta el momento, no existen estudios moleculares que analicen las mutaciones en los genes APC, KRAS y TP53 en población colombiana/latinoamericana. Analizar mutaciones en los genes APC, KRAS y TP53 en 59 pacientes con CE y CCR mediante el secuenciamiento directo. Se estudió a 29 pacientes con CE y 30 con CCR. Se realizó un análisis de mutaciones en los 3 genes por las técnicas de reacción en cadena de la polimerasa y secuenciamiento directo. Se encontró una frecuencia total de mutaciones del 30.5%. El gen más 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 simultáneas 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 cáncer, el más común fue el rs41115 localizado en el gen APC. Las mutaciones en los genes APC, KRAS y TP53 fueron más comunes en el CCR que en el CE; nuestros resultados indican la existencia de diferentes vías genéticas en la carcinogénesis del CE y del CCR, y revelan una frecuencia de mutaciones particular en los pacientes colombianos estudiados, que podría estar influida por factores ambientales y étnicos, y el estilo de vida de esta población. Stomach cancer (SC) and colorectal cancer (CRC) present with high rates of incidence and mortality in the worldwide population. These 2 tumors are characterized by great genetic heterogeneity. Up to now, there have been no molecular studies that analyze the mutations in the APC, KRAS, and TP53 genes in the Colombian/Latin American population. To analyze mutations in the APC, KRAS, and TP53 genes through direct sequencing in 59 patients with SC and CRC. Twenty-nine patients with SC and 30 with CRC were studied. An analysis of the mutations of the 3 genes was carried out using polymerase chain reaction and direct sequencing techniques. A 30.5% total mutation frequency was found. The most frequently mutated gene was APC (15.3%), followed by KRAS (10.1%) and TP53 (5.1%). The CRC samples had a mutation frequency of 46.7% and it was 13.3% in the SC samples (P = .006). No mutations occurred simultaneously in the 3 genes. Mutations in 2 genes were found in only 6 tumor samples (10%). There was also a high frequency of polymorphisms in both types of cancer, the most common of which was the rs41115 polymorphism, located on the APC gene. The APC, KRAS, and TP53 gene mutations were more common in CRC than in SC. Our results suggest the existence of different genetic pathways in the carcinogenesis of SC and CRC and they also reveal a particular mutation frequency in the Colombian patients studied; this could be influenced by factors related to the environment, ethnicity, and lifestyle of this population." @default.
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• W2073205188 date "2014-04-01" @default.
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• W2073205188 title "Análisis genético en APC, KRAS y TP53 en pacientes con cáncer de estómago y colon" @default.
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• W2073205188 doi "https://doi.org/10.1016/j.rgmx.2014.05.001" @default.
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