Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]
Kinase fusions, MAP kinase signaling
Variant Type
Substitution - Missense
Affected Exon Number
Protein Domain [2]
Protein kinase
SIFT Prediction [3]
ClinVar Prediction [3]

BRAF V600E is present in 3.05% of AACR GENIE cases, with colon adenocarcinoma, thyroid gland papillary carcinoma, cutaneous melanoma, melanoma, and lung adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with BRAF V600E

Biomarker-Directed Therapies

Significance of BRAF V600E in Diseases

Melanoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Hairy Cell Leukemia +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Thyroid Gland Papillary Carcinoma +

Cholangiocarcinoma +

Pilocytic Astrocytoma +

Thyroid Gland Follicular Carcinoma +

Pleomorphic Xanthoastrocytoma +

Ganglioglioma +

Mature B-Cell Lymphoma/Leukemia +

Malignant Solid Tumor +

Multiple Myeloma +

Cutaneous Melanoma +

Low Grade Glioma +

Thyroid Gland Carcinoma +

Glioma +

Ovarian Carcinoma +

Breast Carcinoma +

Melanoma Of Unknown Primary +

Colorectal Adenocarcinoma +

Malignant Glioma +

Gastrointestinal Stromal Tumor +

Bladder Carcinoma +

Head And Neck Carcinoma +

Papillary Craniopharyngioma +

Anaplastic Pleomorphic Xanthoastrocytoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Colon Adenocarcinoma +

Cancer +

Glioblastoma +

Small Intestinal Adenocarcinoma +

Bile Duct Carcinoma +

Rectal Carcinoma +

Lung Carcinoma +

Skin Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Gallbladder Carcinoma +

Soft Tissue Sarcoma +

Lymphoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Germ Cell Tumor +

Malignant Uterine Neoplasm +

Prostate Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ameloblastoma +

Bronchogenic Carcinoma +

Chronic Lymphocytic Leukemia +

Esophageal Squamous Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Histiocytosis +

Hodgkin Lymphoma +

Optic Nerve Glioma +

Splenic Diffuse Red Pulp Small B-Cell Lymphoma +

Thyroid Gland Squamous Cell Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.