El Virus del Papiloma Humano (VPH) pertenece a la familia papilomaviridae, algunos pueden causar neoplasias malignas en cuello de útero. La incidencia de estas neoplasias ha disminuido considerablemente con la implementación de la vacuna del VPH. Se plantea valorar la efectividad de una capacitación sobre la vacuna del VPH. Se realizó un estudio no experimental pre y post evaluatorio con un muestreo no probabilístico con los médicos posgradistas de Ginecología y Obstetricia de una institución privada matriculados en el período 2020 y que aceptaron de manera voluntaria participar en el mismo. Se realizó el pretest on-line con preguntas de conocimiento teórico, práctico y el uso de algoritmo de vacunación. Se realizaron catorce preguntas de actitud que se valoró con escala Likert. Cada estudiante que había completado el pretest accedió a un enlace en la plataforma YouTube en la que se encuentra el video de la capacitación. Posterior a esto se envió el mismo test para finalizar el estudio. Dentro de los resultados obtenidos se logró un incremento en los conocimientos teóricos y prácticos en los R1, R4 y el total de residentes. La actitud ante la vacunación del VPH en más del 80% es positiva. La mejoría de los resultados fue mayor en los R4. Se evidenció también que mayoritariamente la vacuna se indica solo para la prevención del cáncer de cuello uterino. La intervención educativa tuvo resultados favorables en conocimientos y actitud, pero los residentes no están capacitados para aplicar el algoritmo de vacunación.
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Background: Genetic testing for hereditary cancers is inconsistently applied within the healthcare systems in Latin America. In Peru, the prevalence and spectrum of cancer-predisposing germline variants is thus poorly characterized. Purpose: To determine the spectrum and prevalence of cancer-predisposing germline variants and variants of uncertain significance (VUS) in high-risk individuals located in a Peruvian low-resource setting city. Methods: Individuals presenting clinical criteria for hereditary cancer syndromes or being unaffected with familial history of cancer were included in the study. Samples from a total of 84 individuals were subjected to a high-throughput DNA sequencing assay that targeted a panel of 94 cancer predisposition genes. The pathogenicity of detected germline variants was classified according to the established American College of Medical Genetics and Genomics (ACMG) criteria. All pathogenic variants were validated by cycling temperature capillary electrophoresis. Results: We identified a total of eight pathogenic variants, found in 19 out of 84 individuals (23%). Pathogenic variants were identified in 24% (10/42) of unaffected individuals with family history of cancer and in 21% (9/42) of individuals with a cancer diagnosis. Pathogenic variants were identified in eight genes: RET (3), BRCA1 (3), SBDS (2), SBDS/MLH1 (4), MLH1 (4), TP53 (1), FANCD2 (1), DDB2/FANCG (1). In cancer cases, all colon cancer cases were affected by pathogenic variants in MLH1 and SBDS genes, while 20% (2/10) of the thyroid cancer cases by RET c.1900T>C variants were affected. One patient with endometrial cancer (1/3) had a double heterozygous pathogenic variant in DDB2 and FANCG genes, while one breast cancer patient (1/14) had a pathogenic variant in TP53 gene. Overall, each individual presented at least 17 VUS, totaling 1926 VUS for the full study population. Conclusion: We describe the first genetic characterization in a low-resource setting population where genetic testing is not yet implemented. We identified multiple pathogenic germline variants in clinically actionable predisposition genes, that have an impact on providing an appropriate genetic counselling and clinical management for individuals and their relatives who carry these variants. We also reported a high number of VUS, which may indicate variants specific for this population and may require a determination of their clinical significance.
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