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Gene | BRAF |
Variant | G466V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BRAF G466V lies within the protein kinase domain of the Braf protein (UniProt.org). G466V results in impaired Braf kinase activity, but paradoxically activates MEK and ERK through transactivation of CRAF in cell culture (PMID: 22649091, PMID: 28783719), and in one of two cell lines, G466V decreased cell proliferation and cell viability as compared to wild-type Braf (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF G466X BRAF G466V BRAF mutant BRAF inact mut BRAF G466V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781611C>A |
cDNA | c.1397G>T |
Protein | p.G466V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378473.1 | chr7:g.140777053C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140778075C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140777053C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140778000C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF G466V | lung non-small cell carcinoma | sensitive | Dasatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Sprycel (dasatinib) induced apoptosis in non-small cell lung cancer cells expressing BRAF G466V in culture (PMID: 22649091). | 22649091 |
BRAF G466V | lung non-small cell carcinoma | sensitive | TAE226 | Preclinical | Actionable | In a preclinical study, TAE226 treatment inhibited proliferation of non-small cell lung carcinoma cell lines harboring BRAF G466V mutation in culture (PMID: 26090892). | 26090892 |
BRAF G466V | lung non-small cell carcinoma | sensitive | TAK-632 | Preclinical - Cell culture | Actionable | In a preclinical study, TAK-632 inhibited proliferation of non-small cell lung cancer cells harboring BRAF G466V in culture (PMID: 27523909). | 27523909 |
BRAF G466V | lung non-small cell carcinoma | no benefit | Vemurafenib | Case Reports/Case Series | Actionable | In a Phase II trial, Zelboraf (vemurafenib) treatment did not result in response in the cohort of 15 non-small cell lung cancer patients with non-V600 BRAF mutations, which included 3 patients harboring BRAF G466V, and enrollment in this cohort was discontinued (PMID: 31959346; NCT02304809). | 31959346 |
BRAF G466V | lung non-small cell carcinoma | no benefit | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, non-small cell lung cancer cells harboring BRAF G466V demonstrated decreased sensitivity to Zelboraf (vemurafenib) in culture (PMID: 27523909). | 27523909 |
BRAF G466V | lung non-small cell carcinoma | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) reduced ERK signaling and inhibited proliferation of non-small cell lung cancer cell lines harboring BRAF G466V in culture (PMID: 28783719). | 28783719 |
BRAF G466V | colorectal cancer | sensitive | Cetuximab | Preclinical - Pdx | Actionable | In a preclinical study, Erbitux (cetuximab) treatment inhibited Erk signaling and reduced tumor growth in a patient-derived xenograft (PDX) model of colorectal cancer harboring BRAF G466V (PMID: 30559419). | 30559419 |
BRAF G466V | colorectal cancer | sensitive | Cetuximab | Preclinical - Pdx | Actionable | In a preclinical study, treatment with Erbitux (cetuximab) reduced ERK signaling and resulted in tumor regression in a colorectal cancer patient-derived xenograft (PDX) model harboring BRAF G466V, and wild-type RAS and NF1 (PMID: 28783719). | 28783719 |
BRAF G466V | colorectal cancer | sensitive | Trametinib | Preclinical - Pdx | Actionable | In a preclinical study, treatment with Mekinist (trametinib) delayed tumor growth in a colorectal cancer patient-derived xenograft (PDX) model harboring BRAF G466V, and wild-type RAS and NF1 (PMID: 28783719). | 28783719 |
BRAF G466V | colorectal cancer | predicted - resistant | Vemurafenib | Preclinical - Pdx | Actionable | In a preclinical study, Zelboraf (vemurafenib) did not inhibit ERK signaling or tumor growth in a colorectal cancer patient-derived xenograft (PDX) model harboring BRAF G466V, and wild-type RAS and NF1 (PMID: 28783719). | 28783719 |
BRAF G466V | colorectal cancer | predicted - resistant | Vemurafenib | Preclinical - Pdx | Actionable | In a preclinical study, Zelboraf (vemurafenib) treatment did not inhibit Erk signaling or reduce tumor growth in a patient-derived xenograft (PDX) model of colorectal cancer harboring BRAF G466V (PMID: 30559419). | 30559419 |
BRAF G466V | colorectal cancer | not predictive | Irinotecan + Panitumumab | Case Reports/Case Series | Actionable | In a clinical case study, a patient with metastatic colorectal cancer harboring BRAF G466V, and with wild-type RAS and NF1, demonstrated tumor regression following treatment with Vectibix (panitumumab) plus Camptosar (irinotecan) (PMID: 28783719). | 28783719 |
BRAF G466V | colorectal cancer | not predictive | Irinotecan + Panitumumab | Case Reports/Case Series | Actionable | In a clinical study, the combination of Vectibix (panitumumab) with Camptosar (irinotecan) as a third-line therapy resulted in a partial response with 6.1 months progression-free survival in a patient with metastatic colorectal cancer harboring BRAF G466V (PMID: 31515458). | 31515458 |
BRAF G466V | lung non-small cell carcinoma | sensitive | Dabrafenib + Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) resulted in decreased proliferation and increased apoptosis, and enhanced ERK inhibition compared to either agent alone in a non-small cell lung cancer cell line harboring BRAF G466V in culture (PMID: 28947956). | 28947956 |
BRAF G466V | lung adenocarcinoma | sensitive | PLX8394 | Preclinical - Cell culture | Actionable | In a preclinical study, PLX8394 decreased growth of lung adenocarcinoma cell lines harboring BRAF G466V in culture (PMID: 27834212). | 27834212 |
BRAF G466V | lung cancer | predicted - sensitive | RMC-4550 | Preclinical - Cell culture | Actionable | In a preclinical study, RMC-4550 inhibited Erk phosphorylation and proliferation of lung cancer cells harboring BRAF G466V in culture (PMID: 30104724). | 30104724 |
BRAF G466V | Advanced Solid Tumor | no benefit | Vemurafenib | Clinical Study - Cohort | Actionable | In a Phase II trial (MyPathway), Zelboraf (vemurafenib) treatment resulted in an objective response in only 4% (1/23) of patient with advanced solid tumors harboring non-V600 BRAF mutations, 1 of the non-responding patients harbored BRAF G466V (PMID: 29320312; NCT02091141). | 29320312 |
BRAF G466V | Advanced Solid Tumor | 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 progressive disease in a patient with tumor of unknown primary harboring BRAF G466V (PMID: 31924734; NCT02465060). | 31924734 |
BRAF G466V | lung adenocarcinoma | 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 progressive disease in a patient with lung adenocarcinoma harboring BRAF G466V (PMID: 31924734; NCT02465060). | 31924734 |
BRAF G466V | lung cancer | predicted - sensitive | PLX8394 | Preclinical - Cell culture | Actionable | In a preclinical study, lung cancer cells harboring BRAF G466V demonstrated sensitivity to PLX8394 treatment in culture (PMID: 30559419). | 30559419 |
BRAF G466V | colorectal cancer | resistant | PLX8394 | Preclinical - Pdx | Actionable | In a preclinical study, PLX8394 treatment did not inhibit Erk signaling or reduce tumor growth in a patient-derived xenograft (PDX) model of colorectal cancer harboring BRAF G466V (PMID: 30559419). | 30559419 |
BRAF G466V | colorectal cancer | sensitive | Cetuximab + PLX8394 | Preclinical - Pdx | Actionable | In a preclinical study, PLX8394 treatment in combination with Erbitux (cetuximab) inhibited tumor growth in a patient-derived xenograft (PDX) model of colorectal cancer harboring BRAF G466V, but did not improve efficacy compared to Erbitux (cetuximab) treatment alone (PMID: 30559419). | 30559419 |
BRAF G466V | colorectal cancer | sensitive | Cetuximab + Vemurafenib | Preclinical - Pdx | Actionable | In a preclinical study, Zelboraf (vemurafenib) treatment in combination with Erbitux (cetuximab) inhibited tumor growth in a patient-derived xenograft (PDX) model of colorectal cancer harboring BRAF G466V, but did not improve efficacy compared to Erbitux (cetuximab) treatment alone (PMID: 30559419). | 30559419 |
BRAF G466V | lung cancer | predicted - sensitive | CFT1946 | Preclinical - Cell culture | Actionable | In a preclinical study, CFT1946 treatment inhibited proliferation of a lung cancer cell line harboring heterozygous BRAF G466V in culture (Cancer Res 2022;82(12_Suppl):Abstract nr 2158). | detail... |
BRAF G466V | lung non-small cell carcinoma | sensitive | IHMT-RAF-128 | Preclinical - Cell culture | Actionable | In a preclinical study, IHMT-RAF-128 inhibited proliferation in a non-small cell lung cancer cell line harboring BRAF G466V in culture (PMID: 37164118). | 37164118 |
BRAF G466V | lung non-small cell carcinoma | sensitive | SIJ777 | Preclinical - Cell culture | Actionable | In a preclinical study, SIJ777 inhibited proliferation of a non-small cell lung cancer cell line harboring BRAF G466V in culture (PMID: 33917428). | 33917428 |
BRAF G466V | lung adenocarcinoma | predicted - sensitive | Dabrafenib + Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, first-line treatment with the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) resulted in a partial response after 3 months in a patient with metastatic lung adenocarcinoma harboring BRAF G466V (PMID: 38283732). | 38283732 |
BRAF G466V | lung non-small cell carcinoma | predicted - sensitive | PF-07799933 | Preclinical - Biochemical | Actionable | In a preclinical study, PF-07799933 inhibited Erk phosphorylation in non-small cell lung cancer cells harboring BRAF G466V in culture (PMID: 38691346). | 38691346 |