RESUMO
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.
RESUMO
There is a gap in the epidemiological data on obesity and COVID-19 mortality in low and middle-income countries worst affected by the COVID-19 pandemic, including Peru. In this ecological study, we explored the association between body mass index (BMI), the prevalence of overweight and obesity, and the COVID-19 mortality rates in 25 Peruvian regions, adjusted for confounding factors (mean age in the region, mean income, gender balance and number of Intensive Care Unit (ICU) beds) using multiple linear regression. We retrieved secondary region-level data on the BMI average and prevalence rates of overweight and obesity in individuals aged ≥ 15 years old, from the Peruvian National Demographics and Health Survey (ENDES 2020). COVID-19 death statistics were obtained from the National System of Deaths (SINADEF) from the Peruvian Ministry of Health and were accurate as of 3 June 2021. COVID-19 mortality rates (per 100,000 habitants) were calculated among those aged ≥ 15 years old. During the study period, a total of 190,046 COVID-19 deaths were registered in individuals aged ≥ 15 years in 25 Peruvian regions. There was association between the BMI (r = 0.74; p = 0.00001) and obesity (r = 0.76; p = 0.00001), and the COVID-19 mortality rate. Adjusted for confounding factors, only the prevalence rate of obesity was associated with COVID-19 mortality rate (ß = 0.585; p = 0.033). These findings suggest that as obesity prevalence increases, the COVID-19 mortality rates increase in the Peruvian population ≥ 15 years. These findings can help to elucidate the high COVID-19 mortality rates in Peru.
RESUMO
We provide an overview of the challenges that low-resource setting cities are facing, including a lack of global implementation of cancer screening programs, accurate data and statistics that may aid the health authorities and guide future public health activities, as well as reorient strategies, interventions and budgets to promote lifestyles that help prevent disease. Current cancer care does not fully reflect ethnic, cultural, environmental and resource differences. Herein, we described a snapshot of the cancer mortality and morbidity from a hospital that cares a rural and low-income population from Peru, called Chimbote (316,966 inhabitants) and showed the limitation of access to oncological care and genetic services. The city is located in the region of Ancash, which is a department of Northern Peru. Of note, we identified a greater proportion of cancer cases than previously described, with a young age of onset and differential profile of the most frequent cancers. With the emergence of increasingly effective interventions, it becomes paramount that populations living in resource-limited settings have access to cancer services and participate in genetics and genomic research.
