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|Gene Variant Descriptions||BRAF G469E is a hotspot mutation that lies within the protein kinase domain of the Braf protein (UniProt.org). BRAF G469E results in decreased Braf kinase activity (PMID: 28783719, PMID: 15035987), but leads to Ras-dependent activation of Erk signaling in cell culture (PMID: 28783719), and results in increased cell proliferation and cell viability as compared to wild-type Braf in one of two cell lines (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|BRAF G469E||spindle cell carcinoma||no benefit||Trametinib||Case Reports/Case Series||Actionable||In a Phase II trial (NCI-MATCH), Mekinist (trametinib) treatment did not demonstrate clinical activity in patients with advanced solid tumors or lymphoma harboring BRAF fusion or non-V600 mutations, resulted in stable disease with a progression-free survival of 6.9 months in a patient with spindle cell carcinoma harboring a BRAF G464E (PMID: 31924734; NCT02465060).||31924734|
|BRAF G469E||breast ductal carcinoma||predicted - sensitive||Trametinib||Case Reports/Case Series||Actionable||In a Phase II trial (NCI-MATCH), Mekinist (trametinib) treatment did not demonstrate clinical activity in patients with advanced solid tumors or lymphoma harboring BRAF fusion or non-V600 mutations, only 1 patient with breast ductal carcinoma harboring BRAF G469E achieved a partial response with a tumor shrinkage of 50% at 4 months, but the patient died suddenly at 4.3 months with no disease progression (PMID: 31924734; NCT02465060).||31924734|
|Molecular Profile||Protein Effect||Treatment Approaches|