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Updated: Jul 5, 2026

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines

Published on: October 8, 2015

Detection of BRAF V600E mutation by pyrosequencing.

Yi Hui Tan¹, Yanqun Liu, Kong Weng Eu

¹Oncology Research Institute, National University of Singapore, Singapore.

|April 23, 2008

Summary

Pyrosequencing effectively detects BRAF V600E mutations, crucial for Lynch syndrome screening and MEK inhibitor sensitivity. This method is faster, cheaper, and more sensitive than dideoxy sequencing for clinical tumor samples.

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Area of Science:

Oncology
Molecular Biology
Genetics

Background:

The BRAF V600E mutation is vital for Lynch syndrome screening and predicting MEK inhibitor response.
Accurate detection of this mutation is critical for patient management and treatment selection.

Purpose of the Study:

To evaluate pyrosequencing as a method for detecting the BRAF V600E mutation.
To compare the efficiency of pyrosequencing with conventional dideoxy sequencing.

Main Methods:

Pyrosequencing technology was employed to detect BRAF V600E mutations.
The method's performance was assessed in 12 tumor cell lines and 108 colorectal tumors, comparing results with dideoxy sequencing.

Main Results:

Pyrosequencing demonstrated 100% concordance with dideoxy sequencing.

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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

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Last Updated: Jul 5, 2026

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines

Published on: October 8, 2015

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

The pyrosequencing method detected BRAF V600E mutations at a lower mutant-to-wild-type allele ratio (1:50) compared to dideoxy sequencing (1:5).

Pyrosequencing proved to be significantly faster and more cost-effective.

Conclusions:

Pyrosequencing is a specific, sensitive, rapid, and cost-effective alternative for detecting BRAF V600E mutations.
This technique is suitable for analyzing clinical tumor specimens.
The findings support the clinical utility of pyrosequencing in cancer diagnostics.