Prevalence and diagnostic reliability of BRAF, RAS mutations, and RET/PTC rearrangements in a Latin American public health service population with thyroid nodular disease.

ABSTRACT: Despite their high prevalence and generally benign nature in most cases, the investigation of thyroid nodules still presents potential diagnostic pitfalls, especially in cases with indeterminate cytology results. The performance of molecular markers of thyroid cancer may vary across centers and populations. This study aimed to verify the prevalence of mutations in the BRAF, and RAS genes, and RET/PTC rearrangements in patients undergoing fine-needle aspiration biopsy (FNAB) for thyroid nodule evaluation in a real-world public health service population. Point mutations and rearrangements were detected by Sanger DNA sequencing. A total of 231 thyroid nodules in 220 patients were evaluated, being 86.8% females and a mean age of 55.6 ± 13.9 years. For molecular analysis, high-quality DNA and R

SUBMITTER: Moposita Molina FD 

PROVIDER: S-EPMC12316217 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature