CBL Y774*

Reports 1 in KLA

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

Position in CBL 1 catalogued variant in this gene

Pathway and targeted therapy

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

Open and recent trials (3 in vascular / lymphatic anomalies for trametinib)

• Trametinib Treatment for Complicated Vascular Anomalies ACTIVE NOT RECRUITING NCT07072403 · PHASE1, PHASE2 · WHO ICTRP
• A Study of Clinical Practice and Real-world Care of Patients Treated With mTOR, PI3K, and MEK Inhibitors for Extracranial Vascular Anomalies NOT YET RECRUITING NCT07767877 · WHO ICTRP
• 24VA021; VATCH Trametinib for Ras/MAPK Pathway VAs ACTIVE NOT RECRUITING NCT07549646 · PHASE2 · WHO ICTRP

Primary sources 2

1. 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
2. Kaposiform lymphangiomatosis effectively treated with MEK inhibition.

   Foster JB, Li D, March ME, Sheppard SE, Adams DM, Hakonarson H, Dori Y. · EMBO Mol Med · 2020

Mentioned in 66 publications indexed by Europe PMC.