BRAF V600E

Position in BRAF 1 catalogued

Reported in LM · GLA · KLA · CCLA

Bars show the reported allele-fraction range on a 0 to 50 percent axis.

Pathway and targeted therapy

Driver of the RAS-MAPK pathway. Repurposed drugs already used in the clinic for this pathway: trametinib and other MEK inhibitors.

Open and recent trials (8 in vascular / lymphatic anomalies for trametinib)

• Trametinib Treatment for Complicated Vascular Anomalies ACTIVE NOT RECRUITING NCT07072403 · PHASE1, PHASE2
• 24VA021; VATCH Trametinib for Ras/MAPK Pathway VAs ACTIVE NOT RECRUITING NCT07549646 · PHASE2
• Pilot Study on Trametinib for Surgical Unruptured AVMs WITHDRAWN NCT06098872 · PHASE2
• A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia RECRUITING NCT05849662 · PHASE1, PHASE2
• TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer RECRUITING NCT02693535 · PHASE2
• Pediatric Long-Term Follow-up and Rollover Study ACTIVE NOT RECRUITING NCT03975829 · PHASE4

Primary sources (3)

1. Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant.
   Fox MD, Kumar S, Britt AD, Srinivasan AS, Surrey LF, Vatsky SE, Borst AJ, Hakonarson H, Li D, Sheppard SE, Snyder KM, Adams DM. · Pediatr Blood Cancer · 2025
2. Genomic profiling informs diagnoses and treatment in vascular anomalies.
   Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. · Nat Med · 2023
3. Somatic activating BRAF variants cause isolated lymphatic malformations.
   Zenner K, Jensen DM, Dmyterko V, Shivaram GM, Myers CT, Paschal CR, Rudzinski ER, Pham MM, Cheng VC, Manning SC, Bly RA, Ganti S, Perkins JA, Bennett JT. · HGG Adv · 2022

Mentioned in 29,826 publications indexed by Europe PMC.

Cross-references