Browsing by Author "Bustamante, Eva"

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    Oncogenic role of arsenic exposure in lung cancer: A forgotten risk factor
    (2019) Soza, Cristian; Bustamante, Eva; Caglevic, Christian; Rolfo, Christian; Sirera, Rafael; Marsiglia, Hugo
    Several drinkable water sources worldwide have been highly contaminated with arsenic, which means that an estimated 160 million people have been exposed to this chemical agent. If we analyse exposure by region, we will find a high correlation between arsenic contamination and the incidence of lung cancer (among other malignancies). In order to determine what the risks of these exposures are, we need to understand how this chemical is processed in our body and how it is linked to cancer. In this article we reviewed how biotransformation of ingested arsenic may lead to cancer by modulating the activation of several essential signalling pathways such as EGFR, PI3K/AKT, RTK/Ras/PI3K, JNK/STAT3 and Nrf2-KEAP1; by producing epigenetics modifications and by disrupting normal expression of miRNAs. In order to design effective health policies, educational strategies, decontaminations plans and effective medical treatments are necessary to understand the impact of arsenic pollution and the relevance of the environment in our health.
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    Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America
    (2021) Salvo, Mauricio; González‐Feliú, Evelin; Toro, Jessica; Gallegos, Iván; Maureira, Ignacio; Miranda‐González, Nicolás; Barajas, Olga; Bustamante, Eva; Ahumada, Mónica; Colombo, Alicia; Armisén, Ricardo; Villamán, Camilo; Ibáñez, Carolina; Bravo, María Loreto; Sanhueza, Verónica; Spencer, M. Loreto; Toro, Gonzalo de; Morales, Erik; Bizama, Carolina; García, Patricia; Carrasco, Ana María; Gutiérrez, Lorena; Bermejo, Justo Lorenzo; Verdugo, Ricardo A.; Marcelain, Katherine
    Next‐generation sequencing (NGS) is progressively being used in clinical practice. How‐ ever, several barriers preclude using this technology for precision oncology in most Latin American countries. To overcome some of these barriers, we have designed a 25‐gene panel that contains pre‐ dictive biomarkers for most current and near‐future available therapies in Chile and Latin America. Library preparation was optimized to account for low DNA integrity observed in formalin‐fixed paraffin‐embedded tissue. The workflow includes an automated bioinformatic pipeline that ac‐ counts for the underrepresentation of Latin Americans in genome databases. The panel detected small insertions, deletions, and single nucleotide variants down to allelic frequencies of 0.05 with high sensitivity, specificity, and reproducibility. The workflow was validated in 272 clinical samples from several solid tumor types, including gallbladder (GBC). More than 50 biomarkers were de‐ tected in these samples, mainly in BRCA1/2, KRAS, and PIK3CA genes. In GBC, biomarkers for PARP, EGFR, PIK3CA, mTOR, and Hedgehog signaling inhibitors were found. Thus, this small NGS panel is an accurate and sensitive method that may constitute a more cost‐efficient alternative to multiple non‐NGS assays and costly, large NGS panels. This kind of streamlined assay with au‐ tomated bioinformatics analysis may facilitate the implementation of precision medicine in Latin America.

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