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Gene BRAF
Variant T599dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions BRAF T599dup (also referred to T599_V600insT) indicates the insertion of the duplicate amino acid, threonine (T)-599, in the protein kinase domain of the Braf protein (UniProt.org). T599dup results in increased kinase activity (PMID: 21190184), increased phosphorylation of Mek and Erk, and transformation in cell culture (PMID: 21190184, PMID: 38662982).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF T599dup

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Transcript NM_004333.6
gDNA chr7:g.140753338_140753340dupTGT
cDNA c.1795_1797dupACA
Protein p.T599dup
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753338_140753340 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753338_140753340dupTGT c.1795_1797dupACA p.T599dup RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753338_140753340dupTGT c.1795_1797dupACA p.T599dup RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753338_140753340 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749326_140749328 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753338_140753340 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749326_140749328 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753338_140753340dupTGT c.1795_1797dupACA p.T599dup RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753338_140753340 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_004333 chr7:g.140753338_140753340dupTGT c.1795_1797dupACA p.T599dup RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF T599dup melanoma predicted - sensitive Binimetinib + Encorafenib Case Reports/Case Series Actionable In a clinical case study, a combination of Mektovi (binimetinib) and Braftovi (encorafenib) resulted in regression of lymphadenopathy, lung nodules, and subcutaneous nodules in a patient with metastatic melanoma harboring BRAF T599dup, and at 9 months from treatment initiation, a partial response was still observed (PMID: 35319964). 35319964
BRAF T599dup melanoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, Tafinlar (dabrafenib) and Mekinist (trametinib) combination resulted in partial metabolic remission within six weeks in a patient with metastatic melanoma harboring BRAF T599dup (PMID: 29494756). 29494756
BRAF T599dup melanoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical study, a combination of Tafinlar (dabrafenib) and Mekinist (trametinib) resulted in partial responses in 4 patients with metastatic melanoma harboring BRAF T599dup, with one patient also harboring CTNNB1 I35T (PMID: 35319964). 35319964
BRAF T599dup melanoma predicted - resistant Vemurafenib Case Reports/Case Series Actionable In a clinical case study, Zelboraf (vemurafenib) resulted in disease progression in two patients with metastatic melanoma harboring BRAF T599dup (PMID: 35319964). 35319964
BRAF T599dup lung adenocarcinoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, a patient with lung adenocarcinoma harboring BRAF T599dup demonstrated a response to the combination of Tafinlar (dabrafenib) and Mekinist (trametinib), with regression of the left lower lobe bronchial tumor (PMID: 33704186). 33704186
BRAF T599dup lung adenocarcinoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, treatment with the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) resulted in 12.3% tumor shrinkage in a patient with lung adenocarcinoma harboring BRAF T599dup along with KRAS Q61H, however, treatment was discontinued for adverse events (PMID: 38662982). 38662982
BRAF T599dup colorectal cancer predicted - resistant Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab Case Reports/Case Series Actionable In a clinical study, the combination of Vectibix (panitumumab) with FOLFOX as a first-line therapy resulted in progressive disease in a patient with metastatic colorectal cancer harboring BRAF T599dup (PMID: 31515458). 31515458
BRAF T599dup colorectal cancer resistant Cetuximab Preclinical - Pdx Actionable In preclinical study, a colorectal cancer patient-derived xenograft (PDX) model harboring BRAF T599dup was resistant to Erbitux (cetuximab) treatment (PMID: 31515458). 31515458
BRAF T599dup ganglioglioma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) resulted in clinical improvement and tumor shrinkage with ongoing stable disease for at least 15 months in a pediatric patient with ganglioglioma harboring BRAF T599dup (PMID: 33637608). 33637608
BRAF T599dup Advanced Solid Tumor sensitive Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, Tafinlar (dabrafenib) inhibited downstream signaling and viability in transformed cells expressing BRAF T599dup in culture (PMID: 38662982). 38662982
BRAF T599dup Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited downstream signaling and viability in transformed cells expressing BRAF T599dup in culture (PMID: 38662982). 38662982