OnCo
termsTerm

BRAF V600E mutation

aka V600E, V600, BRAF V600E, BRAF V600, BRAF-mutant, BRAF-mutated, BRAF mutation, BRAF-mutant melanoma, BRAF/MEK, BRAF + MEK, class II BRAF, class III BRAF, BRAF inhibitor, MEK inhibitor

A single spelling change in the BRAF gene that jams a growth switch permanently on. It is found in half of melanomas and in some colon, thyroid, lung and brain tumours, and is treated with a BRAF pill plus a MEK pill.

V600E (valine to glutamate at position 600) is the commonest BRAF mutation; class II and III mutations behave differently and resist the same drugs. Dabrafenib-trametinib, encorafenib-binimetinib and vemurafenib-cobimetinib treat metastatic and adjuvant melanoma, with immunotherapy usually given first in metastatic disease (DREAMseq). Encorafenib-cetuximab treats BRAF-mutant colorectal cancer (BEACON), dabrafenib-trametinib has a tumour-agnostic approval including glioma and thyroid cancer, and the combination has moved into paediatric low-grade glioma. BRAF-mutant colorectal cancer is aggressive and often overlaps with MSI-high sporadic tumours.

Category
Pathology & biomarkers

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