BRAF V600E Mutation Analysis in Colorectal Cancer
Summary
The BRAF V600E mutation, characterised by a substitution of valine to glutamic acid at codon 600, is present in approximately 10–15 % of colorectal cancers and defines a clinically and biologically distinct subgroup. This alteration constitutively activates the RAF–MEK–ERK signalling cascade, promoting uncontrolled proliferation, resistance to apoptosis and enhanced metastatic potential. Tumours harbouring this mutation often display a right-sided anatomical distribution, high rates of microsatellite instability and a CpG island methylator phenotype, correlating with poorer prognosis and reduced response to anti-EGFR therapies. Accurate detection of BRAF V600E is essential for stratifying patients for targeted interventions, including BRAF inhibitors and combination regimens. Advances in molecular diagnostics have broadened the toolkit to include highly sensitive PCR-based assays, next-generation sequencing panels and antibody-based immunohistochemistry, each offering distinct advantages in terms of turnaround time, cost and applicability to formalin-fixed paraffin-embedded specimens. Integration of these methods into clinical workflows supports personalised management and informs prognostic assessments in early and metastatic disease settings.
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BRAF V600E Mutation Analysis in Colorectal Cancer publication trend
The graph below shows the total number of articles in braf v600e mutation analysis in colorectal cancer across all publications each year (not limited to Nature Index journals).
Technical terms
BRAF V600E mutation: A substitution of valine by glutamic acid at position 600 in the BRAF kinase, leading to continuous activation of the MAPK signalling pathway.
Immunohistochemistry (IHC): A laboratory technique that uses antigen–antibody reactions to visualise specific proteins within tissue sections, aiding in mutation inference and tumour classification.
High-resolution melting (HRM) assay: A PCR-based method detecting sequence variations by analysing the melting behaviour of amplified DNA fragments.
LightMix assay: A probe-based real-time PCR approach offering high sensitivity for identifying low-abundance mutations in formalin-fixed samples.
Microsatellite instability (MSI): Genetic hypermutability resulting from defective mismatch repair, often observed in a subset of colorectal cancers with distinct clinical features.
References
- Immunohistochemistry with Anti-BRAF V600E (VE1) Mouse Monoclonal Antibody is a Sensitive Method for Detection of the BRAF V600E Mutation in Colon Cancer: Evaluation of 120 Cases with and without KRAS Mutation and Literature Review. Pathology & Oncology Research (2017).
- Performance comparison of three BRAF V600E detection methods in malignant melanoma and colorectal cancer specimens. Tumor Biology (2014).
- Hubungan Hubungan antara Ekspresi BRAF V600E dengan Metastasis dan Derajat Diferensiasi pada Adenokarsinoma Kolorektal. E-Jurnal Medika Udayana (2022).
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