Publication:
The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population

Simple item page
dc.contributor.authorErices, José
dc.contributor.authorGonzález, Evelin
dc.contributor.authorSalgado, Marcela
dc.contributor.authorBarahona, Carol
dc.contributor.authorFreire, Matías
dc.contributor.authorSepúlveda, Gonzalo
dc.contributor.authorAmpuero, Diego
dc.contributor.authorBlanco, Alejandro
dc.contributor.authorGárate, Valentina
dc.contributor.authorBáez, Pablo
dc.contributor.authorTapia, Camilo
dc.contributor.authorToro, Jessica
dc.contributor.authorGallegos, Iván
dc.contributor.authorBarajas, Olga
dc.contributor.authorAhumada, Mónica
dc.contributor.authorSanhueza, Verónica
dc.contributor.authorSpencer, Loreto
dc.contributor.authorDe Toro, Gonzalo
dc.contributor.authorMorales, Erik
dc.contributor.authorGutiérrez, Lorena
dc.contributor.authorMorales, Fernanda
dc.contributor.authorMarin, Arnaldo
dc.contributor.authorVarela, Nelson
dc.contributor.authorBermejo, Justo
dc.contributor.authorArmisen, Ricardo
dc.contributor.authorMarcelain, Katherine
dc.date.accessioned2025-10-15T14:15:08Z
dc.date.available2025-10-15T14:15:08Z
dc.date.issued2025
dc.description.abstractIntroduction: 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 Oncomine™ 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.
dc.description.versionVersión Publicada
dc.identifier.citationErices JI., González E., Salgado M., Barahona-Ponce C., Freire M., Sepúlveda-Hermosilla G., Ampuero D., Blanco A., Gárate-Calderón V., Báez-Benavides P., Tapia-Valladares C., Toro J., Gallegos I., Barajas O., Ahumada M., Sanhueza V., Spencer L., De Toro G., Morales E., Gutiérrez L., Morales F., Marin A., Varela N. M., Lorenzo Bermejo J., Armisén R., and Marcelain K. (2025). The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population. Front. Oncol. 15:1658528. doi: 10.3389/fonc.2025.1658528
dc.identifier.doihttps://doi.org/10.3389/fonc.2025.1658528
dc.identifier.urihttps://hdl.handle.net/11447/10345
dc.language.isoen
dc.subjectGallbladder cancer
dc.subjectNext-generation sequencing (NGS)
dc.subjectDriver mutations
dc.subjectGenetic ancestry
dc.subjectPersonalized therapies
dc.titleThe mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceFrontiers in Oncology
dspace.entity.typePublication
relation.isAuthorOfPublicationf814e5ac-2623-4a1f-bc2b-5a1a260ee316
relation.isAuthorOfPublication.latestForDiscoveryf814e5ac-2623-4a1f-bc2b-5a1a260ee316

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
The mutational landscape and actionable targets of gallbladder cancer.pdf
Size:
2.09 MB
Format:
Adobe Portable Document Format
Description:
Texto Completo
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
347 B
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Artículos Medicina y Ciencias de la Salud

Implementado por OpenGeek Services