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Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis

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dc.contributor.authorTapia, Camilo
dc.contributor.authorValenzuela, Guillermo
dc.contributor.authorGonzález, Evelin
dc.contributor.authorMaureira, Ignacio
dc.contributor.authorToro, Jessica
dc.contributor.authorFreire, Matías
dc.contributor.authorSepúlveda, Gonzalo
dc.contributor.authorAmpuero, Diego
dc.contributor.authorBlanco, Alejandro
dc.contributor.authorGallegos, Iván
dc.contributor.authorMorales, Fernanda
dc.contributor.authorErices, José
dc.contributor.authorBarajas, Olga
dc.contributor.authorAhumada, Mónica
dc.contributor.authorContreras, Héctor
dc.contributor.authorGonzález, Jaime
dc.contributor.authorArmisén, Ricardo
dc.contributor.authorMarcelain, Katherine
dc.date.accessioned2024-07-25T16:08:37Z
dc.date.available2024-07-25T16:08:37Z
dc.date.issued2024
dc.description.abstractColorectal cancer (CRC) is the second leading cause of cancer deaths globally. While ethnic differences in driver gene mutations have been documented, the South American population remains understudied at the genomic level, despite facing a rising burden of CRC. We analyzed tumors of 40 Chilean CRC patients (Chp) using next-generation sequencing and compared them to data from mainly Caucasian cohorts (TCGA and MSK-IMPACT). We identified 388 mutations in 96 out of 135 genes, with TP53 (45%), KRAS (30%), PIK3CA (22.5%), ATM (20%), and POLE (20%) being the most frequently mutated. TSC2 mutations were associated with right colon cancer (44.44% in RCRC vs. 6.45% in LCRC, p-value = 0.016), and overall frequency was higher compared to TCGA (p-value = 1.847 × 10-5) and MSK-IMPACT cohorts (p-value = 3.062 × 10-2). Limited sample size restricts definitive conclusions, but our data suggest potential differences in driver mutations for Chilean patients, being that the RTK-RAS oncogenic pathway is less affected and the PI3K pathway is more altered in Chp compared to TCGA (45% vs. 25.56%, respectively). The prevalence of actionable pathways and driver mutations can guide therapeutic choices, but can also impact treatment effectiveness. Thus, these findings warrant further investigation in larger Chilean cohorts to confirm these initial observations. Understanding population-specific driver mutations can guide the development of precision medicine programs for CRC patients.
dc.description.versionVersión Publicada
dc.identifier.citationTapia-Valladares, C., Valenzuela, G., González, E., Maureira, I., Toro, J., Freire, M., Sepúlveda-Hermosilla, G., Ampuero, D., Blanco, A., Gallegos, I., Morales, F., Erices, J. I., Barajas, O., Ahumada, M., Contreras, H. R., González, J., Armisén, R., & Marcelain, K. (2024). Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis. International journal of molecular sciences, 25(9), 4695. https://doi.org/10.3390/ijms2509469
dc.identifier.doihttps://doi.org/10.3390/ijms25094695
dc.identifier.urihttps://hdl.handle.net/11447/9199
dc.language.isoen
dc.subjectColorectal cancer
dc.subjectLATAM
dc.subjectNGS
dc.subjectTSC2
dc.subjectprecision medicine
dc.titleDistinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceInternational journal of molecular sciences
dspace.entity.typePublication

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