Project Title
DESARROLLO Y VALIDACIÓN A PEQUEÑA ESCALA DE UN ENSAYO PARA LA DETECCIÓN DE MUTACIONES TUMORALES EN BIOPSIA LÍQUIDA DE PACIENTES CON CÁNCER DE MAMA AVANZADO
Partner Organisations
University of Chile
Internal ID
ID21I10355
Principal Investigator
KATHERINE MARCELAIN CUBILLOS
Status
TERMINADO
Start Date
2021
End Date
2023
Investigators
OLGA BEATRIZ BARAJAS BARAJAS
MONICA BEATRIZ AHUMADA OLEA
IVAN MARCELO GALLEGOS MENDEZ
JAIME ALFREDO GONZALEZ MONTERO
ARNALDO ANDRÉS MARÍN VALDÉS
Organisations
Instituto Nacional del Cáncer

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    Item type:Publication,
    Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis
    (2024)
    Camilo Tapia-Valladares
    ;
    Guillermo Valenzuela
    ;
    Evelin González Feliú
    ;
    Ignacio Maureira
    ;
    Jessica Toro
    <jats:p>Colorectal 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.</jats:p>
    Scopus© Citations 1  2