Browsing by Author "Aravena, Paola"
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Publication A germline variant of ring finger protein 43 in an early onset, treatment-resistant metastatic gastric cancer: a case report(2025) García-Bloj, Benjamín; Celis, Santiago Farah; Orellana, Natalia Eva; Glasser, Tomás de Mayo; Sáez, Mauricio A.; Retamal, Ignacio N.; Muñoz-Medel, Matías; Sánchez, Carolina; Pinto, Felipe; Aravena, Paola; San Martín, Cristopher; Sabioncello, Andrea C.; Garrido Villanueva, Marcelo; Sigler Chávez, Fernando; Ríos Leal, Juvenal A.; Manque, Patricio A.; Erpel, José M.; Godoy, Juan A.; Garrido, MarceloBackground: Ring finger protein 43 (RNF43) is an E3 ubiquitin-protein ligase that functions as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis, and subsequent degradation of Frizzled receptors within the Wnt receptor complex. It exerts its effects on both canonical and non-canonical Wnt signaling pathways. Case Description: This case report describes a 49-year-old female patient with a significant family history of cancer and parental consanguinity who was diagnosed with treatment-resistant stage IV gastric adenocarcinoma. Genomic profiling conducted via liquid biopsy identified a missense variant in RNF43 exon 9 (NM_017763.6, c.1948C>T; Arg650Ter) with a high variant allele frequency (VAF) of 49.5%. Confirmation of the R650* variant at the germline level underscores its clinical significance in early onset gastric cancer (GC) pathogenesis. Conclusions: While interpretations of its pathogenicity vary in the ClinVar database, the application of the American College of Medical Genetics (ACMG) criteria suggests its potential involvement in cancer pathogenesis. This report highlights the necessity for further research to elucidate the role and impact of RNF43 in GC progression and develop specific preventive measures for affected families as genetic testing and counseling in high-risk families.Publication Comprehensive in‑silico molecular analysis of early‑onset gastric cancer identifies novel genes implicated in disease characterization and progression (Review)(2025) Gómez‑Valenzuela, Fernán; Silva, Ian; Retamal, Ignacio N.; García‑Bloj, Benjamín; De Mayo Glasser, Tomás; Muñoz‑Medel, Matías; Gómez, Alex; San Martín, Cristopher; Sánchez, Carolina; Pinto, Felipe; Aravena, Paola; Sabioncello, Andrea C.; Garrido Villanueva, Marcelo; Sigler Chávez, Fernado; Corvalán, Ignacio; Barrios, Henry; Erpel, José M.; Manque, Patricio A.; Godoy, Juan A.; Garrido, MarceloGastric cancer, a prevalent and fatal form of cancer worldwide, is manifested at different age ranges during the lifespan. Approximately one‑third of newly diagnosed gastric cancer cases are early‑onset gastric cancer (EO‑GC), which affects individuals under the age of 50 years. EO‑GC tends to be more aggressive than late‑onset gastric cancer (L‑GC), with a faster and multifocal disease progression. Furthermore, EO‑GC is associated with early metastatic disease. Recent research has underscored the need for a deeper understanding of EO‑GC that promotes therapeutic approaches specific to EO‑GC. The present study determined the main transcrip‑tomic differences between EO‑GC and L‑GC. Transcriptomic expression data from The Cancer Genome Atlas‑Stomach Adenocarcinoma were explored to elucidate whether age is associated with a specific genomic expression pattern and is associated with gastric cancer. Subsequently, a differential gene expression analysis of the EO‑GC vs. L‑GC groups was performed, providing new insights into EO‑GC gene expression characteristics and their association with survival outcomes. Furthermore, the study focused on whether the influence of representative gene expression in EO‑GC cases (KLHL4, MAGEL2, CYP8B1, RNLS, CLDN6, MIOX, PNMA5 and ACTL8 genes) may be associated with its aggressive phenotype and methylation profiles of these patients. In this review, the necessity of incorporating age as a crucial element in understanding the disparities in outcomes for EO‑GC cases in public datasets was discussed. Furthermore, this insight may be useful for targeted early personalized clinical interventions to improve patient prognosis and survival rates in EO‑GC cases.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.