Towards Personalized Precision Oncology: A Feasibility Study of NGS-Based Variant Analysis of FFPE CRC Samples in a Chilean Public Health System Laboratory.

ABSTRACT: Massively parallel or next-generation sequencing (NGS) has enabled the genetic characterization of cancer patients, allowing the identification of somatic and germline variants associated with their diagnosis, tumor classification, and therapy response. Despite its benefits, NGS testing is not yet available in the Chilean public health system, rendering it both costly and time-consuming for patients and clinicians. Using a retrospective cohort of 67 formalin-fixed, paraffin-embedded (FFPE) colorectal cancer (CRC) samples, we aimed to implement the identification, annotation, and prioritization of relevant actionable tumor somatic variants in our laboratory, as part of the public health system. We compared two different library preparation methodologies (amplicon-based and capture-based) an

SUBMITTER: Duran-Jara E 

PROVIDER: S-EPMC12384127 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature