BRAF V600E mutation
Pronunciation: BEE-raf V-six-hundred-E myu-TAY-shun
A specific genetic alteration in the BRAF gene found in a subset of lung adenocarcinomas, targetable with specific inhibitors.
Full Definition
BRAF V600E mutations occur in approximately 1-3% of lung adenocarcinomas and represent an important targetable genetic alteration. This mutation results in constitutive activation of the MAPK pathway, driving tumor growth and progression. Unlike the more common BRAF mutations in melanoma, lung cancer patients with BRAF V600E mutations can be treated with combination therapy using BRAF and MEK inhibitors such as dabrafenib plus trametinib. The mutation is typically mutually exclusive with other driver mutations like EGFR and ALK rearrangements, making comprehensive molecular profiling essential for treatment planning.
Usage
Usage note: Distinguish from non-V600E BRAF mutations which have different therapeutic implications.
In Context
- "Molecular testing revealed a BRAF V600E mutation, prompting initiation of dabrafenib and trametinib combination therapy." — Treatment plan documentation
- "The patient's adenocarcinoma harbored a BRAF V600E mutation with concurrent high PD-L1 expression of 85%." — Pathology report