Person: Armisen, Ricardo
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Armisen
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Ricardo
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Publication The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population(2025) Erices, JosĆ©; GonzĆ”lez, Evelin; Salgado, Marcela; Barahona, Carol; Freire, MatĆas; SepuĢlveda, Gonzalo; Ampuero, Diego; Blanco, Alejandro; GĆ”rate, Valentina; BĆ”ez, Pablo; Tapia, Camilo; Toro, Jessica; Gallegos, IvĆ”n; Barajas, Olga; Ahumada, MĆ³nica; Sanhueza, VerĆ³nica; Spencer, Loreto; De Toro, Gonzalo; Morales, Erik; GutiĆ©rrez, Lorena; Morales, Fernanda; Marin, Arnaldo; Varela, Nelson; Bermejo, Justo; Armisen, Ricardo; Marcelain, KatherineIntroduction: Gallbladder cancer (GBC) is a highly aggressive malignancy with one of the highest incidence rates reported in Chile. Despite its clinical impact, molecular characterization of GBC in Latin American populations remains limited, and the absence of effective targeted therapies underscores the urgent need for new therapeutic strategies. Methods: We collected 118 tumor samples, of which 56 passed sequencing quality control using the Oncomineā¢ Comprehensive Assay v1. Somatic variants were identified with ANNOVAR and Cancer Genome Interpreter, and ancestry was inferred using ADMIXTURE and PCA with ancestry-informative markers. Comparative analyses were performed with Japanese, Singaporean, and U.S. cohorts. Results: A total of 535 somatic mutations were detected in 43 genes, with TP53 (30%), TSC2 (29%), and NOTCH1 (27%) being the most frequently mutated. We identified 121 clinically actionable variants in ATM, BRCA1/2, EGFR, ERBB2, and other genes. Exploratory analysis suggested an association between higher Mapuche ancestry and TP53 mutations. Comparative analyses revealed distinct mutational patterns in the Chilean cohort relative to Asian and U.S. datasets. Conclusion: This ancestry-informed genomic analysis provides the first comprehensive landscape of Chilean GBC, identifying actionable alterations with potential therapeutic relevance and supporting the development of population-specific precision oncology strategies.Publication Transcription-Coupled Repair Promotes the Retention of Mutations in Coding Regions During Replication Stress(2026) Zambrano, Evelyn; Fierro, Cristopher; Morales, Fernanda; Manterola, Marcia; Marin, Arnaldo; Armisen, Ricardo; Marcelain, KatherineReplication stress (RS) is a primary driver of genomic instability in cancer, yet the contribution of transcription-coupled repair (TC-NER) to this process remains unclear. Here, we investigate how the TC-NER factor ERCC6 (CSB) shapes mutational landscapes under RS. We found that ERCC6 deficiency biases early damage signaling toward a 53BP1-mediated response, ultimately leading to senescence. Conversely, ERCC6-proficient cells prioritize survival and proliferative recovery but at the expense of distinct genomic alterations. Whole-exome sequencing reveals that ERCC6 proficiency is associated with the retention of stress-induced mutations specifically within coding regions of transcriptionally active loci, whereas ERCC6-deficient cells accumulate variants primarily in intergenic regions. These findings suggest that while ERCC6 safeguards transcriptional continuity during RS, its activity is associated with a biased retention of stress-induced mutations within coding regions in the surviving cell population. These findings reveal a previously unrecognized link between transcription-coupled repair and mutation distribution in human cells, linking TC-NER to context-dependent somatic evolution and tumor heterogeneity.