Authors
Fernando Sigler Chávez, Pelegrino Romano De la Torre, Wladimir Flores, Nicolas Cueto, Marcelo Garrido Villanueva, Javiera Veas-Torres, Daniela I Miranda, Felipe Salinas Barriga, María E Avendaño, Cristopher San Martin Abello, Andrea C Sabioncello H, Mauricio A Sáez, Marialvis Nava Brito, Tania Manriquez Flores, Henry Barrios, Juan A Godoy, Marcelo Garrido
Published in
Journal of gastrointestinal oncology. Volume 17. Issue 3. Pages 180. Jun 30, 2026. Epub Apr 30, 2026.
Abstract
Colorectal cancer (CRC) represents a growing public health challenge in Chile, driven by an aging population and the absence of a fully implemented nationwide screening program. Although molecular profiling has improved therapeutic decision-making in advanced diseases, its population-level impact remains limited due to late-stage diagnosis. This study analyzed real-world molecular data from 999 patients with CRC diagnosed between 2019 and 2021 across multiple Chilean institutions to characterize the frequency and sex-specific distribution of KRAS, NRAS, and BRAF mutations. Patients with confirmed CRC and available molecular testing were included, reflecting routine clinical practice without stage restrictions. Mutation frequencies were assessed using allele-specific quantitative polymerase chain reaction (qPCR) assays, and sex-based comparisons were performed using Fisher's exact test. Odds ratios (ORs) were estimated using bootstrap-derived confidence intervals (CIs). A high prevalence of KRAS mutations was observed, with lower but clinically relevant frequencies of NRAS and BRAF alterations. Sex-stratified analyses suggested differential mutation patterns, although variability was noted across years. These findings underscore the importance of integrating molecular epidemiology into the national cancer control strategies. Overall, this report provides a comprehensive perspective on the burden of CRC in Chile, highlighting actionable opportunities for intervention and demonstrating that this burden is potentially modifiable. The combined implementation of organized screening programs and molecular stratification represents a complementary and synergistic approach to reducing mortality and advancing precision oncology at the population level.
PMID:
42434284
Bibliographic data and abstract were imported from PubMed on 11 Jul 2026.
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