Browsing by Author "Garrido, Javiera"
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Publication Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers(2024) Garrido, Javiera; Bernal, Yanara; González, Evelin; Blanco, Alejandro; Sepúlveda, Gonzalo; Freire, Matías; Oróstica, Karen; Rivas, Solange; Marcelain, Katherine; Owen, Gareth; Ibañez, Carolina; Corvalan, Alejandro; Garrido, Marcelo; Assar, Rodrigo; Lizana, Rodrigo; Cáceres, Javier; Ampuero, Diego; Ramos, Liliana; Pérez, Paola; Aren, Osvaldo; Chernilo, Sara; Fernández, Cristina; Spencer, María; Flores, Jacqueline; Bernal, Giuliano; Ahumada, Mónica; Rasse, Germán; Sánchez, Carolina; De Amorim, Maria; Bartelli, Thais; Noronha, Diana; Dias, Emmanuel; Freitas, Helano; Armisén, RicardoBackground: Tobacco use is one of the main risk factors for Lung Cancer (LC) development. However, about 10-20% of those diagnosed with the disease are never-smokers. For Non-Small Cell Lung Cancer (NSCLC) there are clear differences in both the clinical presentation and the tumor genomic profiles between smokers and never-smokers. For example, the Lung Adenocarcinoma (LUAD) histological subtype in never-smokers is predominately found in young women of European, North American, and Asian descent. While the clinical presentation and tumor genomic profiles of smokers have been widely examined, never-smokers are usually underrepresented, especially those of a Latin American (LA) background. In this work, we characterize, for the first time, the difference in the genomic profiles between smokers and never-smokers LC patients from Chile. Methods: We conduct a comparison by smoking status in the frequencies of genomic alterations (GAs) including somatic mutations and structural variants (fusions) in a total of 10 clinically relevant genes, including the eight most common actionable genes for LC (EGFR, KRAS, ALK, MET, BRAF, RET, ERBB2, and ROS1) and two established driver genes for malignancies other than LC (PIK3CA and MAP2K1). Study participants were grouped as either smokers (current and former, n = 473) or never-smokers (n = 200) according to self-report tobacco use at enrollment. Results: Our findings indicate a higher overall GA frequency for never-smokers compared to smokers (58 vs. 45.7, p-value < 0.01) with the genes EGFR, KRAS, and PIK3CA displaying the highest prevalence while ERBB2, RET, and ROS1 the lowest. Never-smokers present higher frequencies in seven out of the 10 genes; however, smokers harbor a more complex genomic profile. The clearest differences between groups are seen for EGFR (15.6 vs. 21.5, p-value: < 0.01), PIK3CA (6.8 vs 9.5) and ALK (3.2 vs 7.5) in favor of never-smokers, and KRAS (16.3 vs. 11.5) and MAP2K1 (6.6 vs. 3.5) in favor of smokers. Alterations in these genes are comprised almost exclusively by somatic mutations in EGFR and mainly by fusions in ALK, and only by mutations in PIK3CA, KRAS and MAP2K1. Conclusions: We found clear differences in the genomic landscape by smoking status in LUAD patients from Chile, with potential implications for clinical management in these limited-resource settings.Publication Molecular and clinical registry of Chilean patients diagnosed with BRAF-mutated colorectal cancer(2025) García-Bloj, Benjamín; Mayo Glaser, Tomás de; Sigler Chávez, Fernando; Muñoz-Medel, Matías; Cueto, Nicolás; Pinto, Felipe; Aravena, Paola; Retamal, Ignacio N.; Gómez-Valenzuela, Fernán; Silva, Ian; Garrido, Javiera; Corvalán, Ignacio; Avendaño, María E.; San Martin Abello, Cristopher; Sabioncello, Andrea C.; Garrido Villanueva, Marcelo; Erpel, José M.; Henríquez, Jenny F.; Godoy, Juan A.; Garrido, MarceloBackground: In recent years, the epidemiological trend of colorectal cancer (CRC) in Chile has become increasingly concerning, particularly due to the high costs associated with managing advanced-stage disease, which places a significant strain on the national healthcare system. In 2012, 2,417 new CRC cases were reported across both sexes in Chile. However, current projections estimate a sharp rise to 5,914 new cases, corresponding to an incidence rate of 20.7 per 100,000 individuals. This study aims to register the presence of BRAF mutations in Chilean patients to better characterize the molecular epidemiology of CRC in the local population. BRAF mutations are associated with poor prognosis, with affected patients typically exhibiting a median overall survival (OS) of less than 12 months. Methods: We present a cohort study that included 23 Chilean patients newly diagnosed with CRC and recruited up to April 1, 2024. Patients with a history of another malignant neoplasm diagnosed within the previous three years were excluded. BRAF mutations were analyzed in all participants treated within the public and private healthcare systems in Santiago, Chile. Results: Despite the rising prevalence of CRC in Chile, the frequency and distribution of BRAF mutations in the local population are unknown. Median OS differed by sex, with female patients showing a shorter OS of 24 months compared to 75 months in male patients (P=0.16). When stratified by stage at diagnosis, patients with stage II–III disease demonstrated a markedly longer median OS of 134 months, whereas those with stage IV disease had a median OS of only 24 months (P=0.12; not significant). Conclusions: Establishing comprehensive records of the most prevalent BRAF mutations in Chilean patients with CRC is essential for advancing precision oncology research. This knowledge has the potential to transform clinical management strategies and enhance treatment outcomes and the quality of life of patients. Consequently, an accurate assessment of BRAF gene mutations tailored to the molecular and clinical characteristics of each patient is crucial for optimizing treatment outcomes.Item Tasa de egresos hospitalarios de pacientes con estenosis de la válvula aórtica durante el periodo 2021-2024 en Chile(2026) Poblete, Isidora; Bustamante, Angela; Cid, Jhonn; Rodríguez, Valentina; Garrido, JavieraIntroducción: La estenosis de la válvula aórtica es la valvulopatía más frecuente, asociada a alta morbimortalidad. Ante el envejecimiento poblacional y la limitada información epidemiológica nacional, surge la necesidad de analizar los egresos hospitalarios. Objetivo: Establecer la tasa de egresos hospitalarios por estenosis de la válvula aórtica entre 2021-2024 en Chile. Metodología: Estudio cuantitativo, observacional, descriptivo y de corte transversal. Se analizaron las tasa de egresos hospitalarios por estenosis de la válvula aórtica según sexo, edad y promedio de estadía hospitalaria, incluyendo todos los egresos con diagnóstico CIE- 10 I35.0 a nivel nacional. Los datos se obtuvieron del Departamento de Estadísticas e Información de Salud y del Instituto Nacional de Estadísticas. Se analizó estadística descriptiva en Microsoft Excel. Resultado: Se registraron 8.147 casos, con una tasa de egresos hospitalarios de 11,02 casos por cada 100.000 habitantes y tendencia al alza. Destaca un predominio en hombres (12,98 casos/100.000 habitantes) y en mayores de 80 años (71,67 casos/100.000 habitantes). El promedio de estadía hospitalaria fue de 11,12 días, con 11,42 para hombres y 10,72 para mujeres. Discusión: El aumento de la tasa de egresos hospitalarios es consistente con el envejecimiento poblacional. Las diferencias por sexo podrían relacionarse con variaciones en la progresión o acceso al diagnóstico. La disminución de la estadía desde 2022 sugiere una recuperación del sistema de salud tras la pandemia. Conclusión: La creciente carga hospitalaria de la estenosis de la válvula aórtica en Chile evidencia la necesidad de planificación sanitaria, con énfasis en factores clínicos y brechas de género. Introduction: Aortic valve stenosis is the most common valvular heart disease, associated with high morbidity and mortality. Given the aging population and limited national epidemiological data, there is a need to analyze hospital discharges. Objective: To establish the hospital discharge rate for aortic valve stenosis in Chile during 2021-2024. Methodology: Quantitative, observational, descriptive, cross-sectional study. Hospital discharge rate for aortic valve stenosis were analyzed by sex, age, and average length of hospital stay, including all discharges with an ICD-10 I35.0 diagnosis nationwide. Data came from the Department of Health Statistics and Information and the National Institute of Statistics and were analyzed with descriptive statistics in Microsoft Excel. Result: 8.147 cases were recorded, with an hospital discharge rate of 11,02 per 100.000 inhabitants and an upward trend, with predominance in men (12,98/100.000) and in those over 80 (71,67/100.000). Average length of stay was 11,12 days: 11,42 for men and 10,72 for women. Discussion: The hospital discharge rate increase is consistent with population aging; sex differences may reflect variations in progression or access to diagnosis; the shorter stay since 2022 suggests health-system recovery after the pandemic. Conclusion: The growing hospital burden of aortic valve stenosis in Chile highlights the need for healthcare planning, emphasizing clinical factors and gender gaps.