Associated Genetic Biomarkers
BRAF D594N is present in 0.10% of AACR GENIE cases, with lung adenocarcinoma, melanoma, and bladder urothelial carcinoma having the greatest prevalence .
BRAF D594N serves as an inclusion eligibility criterion in 2 clinical trials, of which 1 is open and 1 is closed. Of the trials that contain BRAF D594N as an inclusion criterion, 2 are phase 1 (1 open).
Trials with BRAF D594N in the inclusion eligibility criteria most commonly target colorectal carcinoma, non-small cell lung carcinoma, colorectal adenocarcinoma, melanoma, and malignant solid tumor .
Cetuximab, pembrolizumab, bevacizumab, liver transplantation, and regorafenib are the most frequent therapies in trials with BRAF D594N as an inclusion criteria .
Significance of BRAF D594N in Diseases
Malignant Solid Tumor +
BRAF is altered in 5.41% of malignant solid tumor patients with BRAF D594N present in 0.1% of all malignant solid tumor patients .
BRAF D594N is an inclusion criterion in 2 clinical trials for malignant solid tumor, of which 1 is open and 1 is closed. Of the trials that contain BRAF D594N and malignant solid tumor as inclusion criteria, 2 are phase 1 (1 open) .
Non-Small Cell Lung Carcinoma +
BRAF is altered in 4.75% of non-small cell lung carcinoma patients with BRAF D594N present in 0.16% of all non-small cell lung carcinoma patients .
BRAF D594N is an inclusion criterion in 1 clinical trial for non-small cell lung carcinoma, of which 0 are open and 1 is closed. Of the trial that contains BRAF D594N and non-small cell lung carcinoma as inclusion criteria, 1 is phase 1 (0 open) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.
Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.
4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.