ABSTRACT
The genomic characteristics of Peruvian patients with gastric adenocarcinoma from diverse socioeconomic backgrounds were examined in consideration of the possibility that patients from different socioeconomic backgrounds may be exposed to different risk factors. We conducted a prospective pilot study in two Peruvian cities (Lima and Ica). This study enrolled 15 patients from low socioeconomic status (LSES) and 15 patients from medium/high socioeconomic status (MHSES). The genomic profiling of gastric adenocarcinoma samples was done through the FoundationOne CDx platform. We compared the genomic characteristics and the need for targeted therapy and immunotherapy between LSES and MHSES. The genes with higher rates of alterations were TP53 (73.3% vs. 50.0%, P = 0.2635); CDH1 (26.7% vs. 28.6%, P = 1); CDKN2A (20.0% vs. 28.6%, P = 1); KRAS (33.3% vs. 7.1%, P = 0.1686); ARID1A (20.0% vs. 14.3%, P = 1); MLL2 (13.3% vs. 21.4%, P = 1) and SOX9 (33.3% vs. 0.0%, P = 0.0421) in LSES versus HMSES, respectively. There was no significant difference in tumor mutational burden (P = 0.377) or microsatellite status (P = 1). The LSES group had a higher need for targeted therapy or immunotherapy according to gene involvement and alterations. A significant genomic difference exists among patients with gastric adenocarcinoma of different socioeconomic status, which may result in a different need for targeted therapy and immunotherapy.
Subject(s)
Stomach Neoplasms , Humans , Stomach Neoplasms/genetics , Male , Female , Middle Aged , Aged , Adenocarcinoma/genetics , Prospective Studies , Genomics/methods , Peru/epidemiology , Pilot Projects , Adult , Socioeconomic Factors , Mutation , Social Class , Socioeconomic Disparities in HealthABSTRACT
Background: There is an increasing amount of data from Latin America on the characterization of BRCA variants; however, there is limited information from Peru. We conducted a retrospective study to describe germline pathogenic/likely pathogenic(P/LP) variants and variants of uncertain/unknown significance (VUS) in the BRCA1 and BRCA2 genes in Peru, in patients with breast and ovarian cancer, candidates for treatment with poly (adenosine diphosphate-ribose) polymerase (PARP) inhibitors. Methods: The patients were evaluated during the period 2019-2021. Genomic DNA was isolated from peripheral blood samples and targeted sequencing was performed using the Ampliseq BRCA panel. Genetic variant interpretation was carried out in accordance with the recommendations of the American College of Medical Genetics and ClinVar. During this period, 525 patients (143 with breast cancer and 382 with ovarian cancer) were studied. Results: We found that 14.7% (21/143) of breast cancer patients and 20.7% (79/382) of ovarian cancer patients were carriers of P/LP variants in BRCA1/2. The most frequent pathogenic variants detected in BRCA1 were c.2105dupT (BIC: 2224insT, n=12, 18.75%), c.68_69delAG (BIC: 185delAG, n=6, 9.38%), c.140G>T and c.815_824dupAGCCATGTGG (n=5, 7.81%), while in BRCA2 were c.8023A>G (n=6, 16.67%), c.6024dupG (BIC: 6252insG, n=4, 11.11%), and c.9235delG (BIC: 9463delG, n=3, 8.33%). Regarding VUS, we found that 6.99% (10/143) of breast cancer patients and 7.33% (28/382) of ovarian cancer patients were carriers of a VUS in BRCA1/2. For BRCA1, the most frequent VUS was c.93C>G (n=2), and for BRCA2, c.5465A>T (n=4), c.3101T>C (n=3), c.205C>A and c.437T>C (n=2). Conclusion: We found a frequency of 14.7% germline mutations in breast cancer patients and 20.7% in ovarian cancer patients. The most recurrent mutations were BRCA1 c.2105dupT and BRCA2 c.8023A>G. We found that BRCA2 c.8023A>G, c.6024dupG, and c.9235delG were not previously reported in Peruvian patients. BRCA1 c.2344dupA is a novel mutation that has not been previously reported in any database. The frequency of VUS in our cohort was 7.2%.
ABSTRACT
Resumen Con el objetivo de determinar la correlación entre los casos de varicela notificados en Perú y las búsquedas sobre varicela realizadas en Google a nivel nacional y por regiones se realizaron análisis de correlación de Spearman para las semanas epidemiológicas del 2016 al 2019, así como antes y después de la introducción de la vacuna para varicela en el Perú. A nivel nacional, se encontró una alta correlación antes del inicio de la vacunación (Rho 0,778, p = 0,001) y moderada durante el periodo de vacunación (Rho 0,441, p = 0,001). Algunas regiones tuvieron una correlación baja o muy baja y dejaron de ser estadísticamente significativas luego de la introducción de la vacuna en el Perú. Además, el cambio en la estacionalidad de la varicela durante el periodo de vacunación también tuvo un impacto en las búsquedas que realiza la población en Google.
Abstract In order to determine if there is a correlation between chickenpox cases reported in Peru and the chickenpox searches carried out on Google at national level and by regions, Spearman's correlation analyzes were carried out for the epidemiological weeks from 2016 to 2019, as well as before and after the introduction of the chickenpox vaccine in Peru. At the national level, a high correlation was found before the start of vaccination (Rho 0.778, p = 0.001) and moderate during the vaccination period (Rho 0.441, p = 0.001), some regions had a low or very low correlation and stopped to be statistically significant after the introduction of the vaccine in Peru. In addition, the change in the seasonality of chickenpox during the vaccination period also had an impact on the searches carried out by the population on Google.
ABSTRACT
En el contexto de la epidemia por COVID-19, los rumores que contienen noticias e información falsa -también conocidos como fake news- son una preocupación para las autoridades sanitarias, y su propagación en las redes sociales -como WhatsApp o Facebook- es tan rápida que su consecuencia podría generar miedo o la toma de malas decisiones por parte de la población(AU)
