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Updated: May 9, 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

BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.

Ming Jin¹, Heather Hampel, Xiaoping Zhou

¹Department of Pathology, Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.

American Journal of Clinical Pathology

|July 31, 2013

Summary

This summary is machine-generated.

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Adding BRAF mutation analysis to mismatch repair (MMR) testing for Lynch syndrome (LS) in colorectal cancer (CRC) patients reduced follow-up needs by 40%. This streamlines genetic testing for LS, saving time and costs.

Area of Science:

Oncology
Genetics
Molecular Diagnostics

Background:

Lynch syndrome (LS) is the most common inherited cause of colorectal cancer (CRC).
Mismatch repair (MMR) protein staining is a key diagnostic step for LS.
Identifying patients with LS is crucial for genetic counseling and management.

Purpose of the Study:

To assess the impact of adding reflex BRAF mutation analysis to the MMR testing algorithm for LS.
To evaluate the efficiency and cost-effectiveness of this integrated approach.

Main Methods:

BRAF V600E mutation analysis was performed on newly diagnosed CRCs with absent MLH1 and PMS2 proteins.
This reflex testing was integrated into the existing LS diagnostic pathway.

Keywords:

BRAF mutation Immunohistochemistry Lynch syndrome Microsatellite instability Mismatch repair genes

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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: May 9, 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

Main Results:

Of 412 CRC patients, 90 (22%) had at least one absent MMR protein.
BRAF mutations were present in 55% of cases with absent MLH1 and PMS2.
Adding BRAF testing reduced necessary follow-up patient contacts by 40%.

Conclusions:

Reflex BRAF mutation testing in CRCs with absent MLH1 and PMS2 significantly simplifies LS genetic testing.
This approach leads to substantial cost and time savings.
It effectively reduces patient contacts by 40%.