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Updated: Jul 16, 2026

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
Effect of BRAFV600E mutation on transcription and post-transcriptional regulation in a papillary thyroid carcinoma
Susanne Cahill1, Paul Smyth, Karen Denning
1Dept. of Histopathology, University of Dublin, Trinity College, Dublin, Ireland. sucahill@tcd.ie
Background:
microRNAs (miRNAs) are a group of non-coding single stranded RNAs measuring approximately 22 nucleotides in length that have been found to control cell growth, differentiation and apoptosis. They negatively regulate target genes and have recently been implicated in tumourigenesis. Furthermore, miRNA expression profiling correlates with various cancers, with these genes thought to act as both tumour suppressors and oncogenes. Recently, a point mutation in the BRAF gene leading to a V600E substitution has been identified as the most common genetic change in papillary thyroid carcinoma (PTC) occurring in 29-69% of cases. This mutation leads to aberrant MAPK activation that is implicated in tumourigenesis.
Aim:
The aim of this study was to identify the effect that BRAF oncogene has on post-transcriptional regulation in PTC by using microRNA analysis.
Results:
A unique miRNA expression signature differentiated between PTC cell lines with BRAF mutations and a normal thyroid cell line. 15 miRNAs were found to be upregulated and 23 miRNAs were downregulated. Several of these up/down regulated miRNAs may be involved in PTC pathogenesis. miRNA profiling will assist in the elucidation of disease pathogenesis and identification biomarkers and targets.
Insights
The BRAF oncogene influences microRNA (miRNA) expression in papillary thyroid carcinoma (PTC). This study identified distinct miRNA signatures associated with BRAF mutations, offering insights into PTC development and potential therapeutic targets.
Area of Science:
- Molecular Biology
- Genetics
- Oncology
Background:
- MicroRNAs (miRNAs) are key regulators of gene expression involved in cell growth, differentiation, and apoptosis.
- Aberrant miRNA expression is linked to various cancers, including acting as tumor suppressors or oncogenes.
- The BRAF V600E mutation is a common genetic alteration in papillary thyroid carcinoma (PTC), driving tumor development via MAPK pathway activation.
Purpose of the Study:
- To investigate the impact of the BRAF oncogene on post-transcriptional regulation in PTC.
- To identify specific microRNA expression profiles associated with BRAF mutations in thyroid cancer.
Main Methods:
- MicroRNA expression profiling was performed on PTC cell lines with and without BRAF mutations.
- Comparative analysis was used to identify differentially expressed miRNAs.
Main Results:
- A distinct miRNA expression signature differentiated PTC cell lines harboring BRAF mutations from normal thyroid cells.
- 15 miRNAs were significantly upregulated, and 23 miRNAs were downregulated in BRAF-mutated PTC cells.
- Several identified miRNAs are potentially involved in the pathogenesis of PTC.
Conclusions:
- BRAF oncogene significantly alters miRNA expression profiles in PTC.
- miRNA profiling can aid in understanding PTC pathogenesis.
- Identified miRNAs may serve as potential biomarkers or therapeutic targets for PTC.
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