This study aimed to establish the clinicopathological characteristics of patients with melanoma and its association with BRAF gene mutations. The pathology reports and paraffin-embedded tumor samples from 47 women and 30 men with melanoma, with an average age of diagnosis of 60 years, were reviewed at the Hospital Federico Lleras Acosta of Ibague, between 2010 and 2016. The presence of V600E mutation at the exon 15 of BRAF gene, was analyzed in these tumoral samples by Sanger sequencing and visual inspection of the electropherograms. We also studied the clinicopathological variables with X2, t-Student and the Kaplan Meier index. Most of the lesions were located in the lower limbs (46.6%). The most frequent subtype was Acral Lentiginous Melanoma (41.8%). Most lesions were of poor prognosis: Breslow depth greater than 4.1 mm (52.7%), ulceration (61.4%) and medium or high mitotic rate (> 30 %). The V600E mutation was identified in five patients with large, deep and ulcerated tumors, four of them had less than four years of survival. In conclusion, there was a higher frequency of melanoma in women, V600E BRAF mutation was present in patients with advanced disease (high Breslow index) and, the probability of five-year survival was less than 40%.
Several colorectal cancer susceptibility disease loci have been discovered through Genome-wide association studies. However most of the variants were originally identified in Caucasian populations. Demographic history and admixture background may impact the association of known CRC variants due to the differences in linkage disequilibrium across different populations. We performed a genomic study in a sample of 955 cases and 968 controls from admixed populations in Colombia by genotyping ∼1 million SNPs aimed to detect the impact of genetic structure in the association of 20 known SNPs risk for colorectal cancer. The replication was reached for eleven out of 20 nominally associated SNPs; with allelic odds ratios (OR) between 1.14 and 1.41, indicating a minimal individual risk increment; on the other hand, the overall OR for co-inherited SNPs was 5.4 (95% CI: 3.052-9.731,P=1.16E-08). Most of the variants followed a recessive model with significant homozygous ORs distributed between 1.3 and 1.65. The major associated markers were: rs4939827 (18q21.1,P=7.35E-6), rs10411210 (19q13.11,P=0.001) rs10795668 (10p14,P=0.0024), rs4444235 (14q.2.2,P=0.005), rs961253 (20p12.3,P=0.006), rs16892766 (8q23.3,P=0.011) and rs1050547 (8q24.21,P=0.017). Additionally, European ancestral component was associated with colorectal cancer risk (p=6.48E-04, OR = 4.244 95% IC: 1.701-10.68). Our findings in Colombia indicates a significant contribution of the known CRC risk SNPs to the disease in the Colombian population, which in turns can be explained by the genetic European component influx during the admixture process. The unassociated SNPs indicates frequency and genetic structure differences between European and Colombian populations or due to the sample process.
Colombia es el segundo país con mayor cantidad de etnias Amerindias del continente gracias a su ubicación geográfica y a que se encuentra en el Noroccidente del continente Sur Americano tuvo que haber sido un corredor para las migraciones de los Amerindios. Pero debido a la mezcla amerindia, europea y africana, ocurrida en diferentes proporciones a lo largo del país hubo cambios en las dinámicas poblacionales. Ojetivo: se caracterizó molecularmente una muestra indígena proveniente de dos etnias – Pijao y Nasa Paez, - y otra muestra de individuos mestizos no relacionados del Tolima; con el fin de identificar heterocigocidad, frecuencias alélicas y distancias Fst, mediante el análisis de 100 marcadores informativos de ancestría (SNPs autosómicos). Metodología: Para la realización de este estudio se obtuvo ADN a partir de muestras de sangre tomadas en personas indígenas y mestizas de las regiones ya mencionadas, para tipificar 100 SNPs autosómicos o Marcadores de informativos de Ancestría (AIMs). Resultados: los análisis de la Heterocigocidad (Het) mostraron que los valores bajos se presentaban en las etnias indígenas Nasa (0,181) y Pijaos (0,250), mientras que los de Planadas (0,402) e Ibagué (0,415) presentaron los valores altos. Los análisis realizados de manera global mostraron que las poblaciones del Tolima son menos heterocigotas que las poblaciones ancestrales. Conclusiones: La población nativa Nasa, es la de mayor conservación de la variación nativa ancestral reflejada con los análisis de heterocigocidad y posee una mayor distancia genética con respecto a las poblaciones mestizas.
En general, los ecosistemas de bosque seco tropical no han sido suficientemente estudiados en comparación con otras zonas de vida, de allí se deriva la importancia de realizar este estudio en el Centro de Investigación y Educación Ambiental La Tribuna, asentamiento antiguo de explotación petrolera, con el objeto de establecer las posibles diferencias significativas entre poblaciones microbianas de algunos grupos funcionales del ciclo del carbono y del nitrógeno, heterótrofas totales y hongos por parcela y períodos pluviométricos. Las diferencias significativas observadas en este estudio se presentaron entre las poblaciones de amilolíticos y fijadores de nitrógeno como consecuencia de la temporada de lluvias o de la temporada seca; en las diferentes parcelas, los bacilos grampositivos esporulados fueron los microorganismos más abundantes presentando frecuencias de aparición entre común y muy común.
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