Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]
Kinase fusions, MAP kinase signaling

BRAF Mutation is present in 5.50% of AACR GENIE cases, with colon adenocarcinoma, cutaneous melanoma, lung adenocarcinoma, melanoma, and thyroid gland papillary carcinoma having the greatest prevalence [4].

Top Disease Cases with BRAF Mutation

Significance of BRAF Mutation in Diseases

Malignant Solid Tumor +

Melanoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Breast Carcinoma +

Cancer +

Pancreatic Carcinoma +

Glioma +

Gastric Carcinoma +

Ovarian Carcinoma +

Cutaneous Melanoma +

Urothelial Carcinoma +

Non-Hodgkin Lymphoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Esophageal Squamous Cell Carcinoma +

Esophageal Carcinoma +

Renal Cell Carcinoma +

Thyroid Gland Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Colon Carcinoma +

Colorectal Adenocarcinoma +

Low Grade Glioma +

Lung Carcinoma +

Multiple Myeloma +

Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Lymphoma +

Pancreatic Adenocarcinoma +

Cervical Carcinoma +

Head And Neck Carcinoma +

Soft Tissue Sarcoma +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Pancreatic Ductal Adenocarcinoma +

Thyroid Gland Adenocarcinoma +

Ganglioglioma +

Melanoma Of Unknown Primary +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Low-Grade Neuroepithelial Tumor, NOS +

Neuronal And Mixed Neuronal-Glial Tumors +

Pilomyxoid Astrocytoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Mucosal Melanoma +

Pilocytic Astrocytoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Astrocytic Tumor +

Bladder Carcinoma +

Malignant Hepatobiliary Neoplasm +

Hepatobiliary Neoplasm +

Malignant Uterine Neoplasm +

Diffuse Glioma +

Neuroblastoma +

Malignant Peripheral Nerve Sheath Tumor +

Thymic Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Merkel Cell Carcinoma +

Squamous Cell Carcinoma +

Cervical Squamous Cell Carcinoma +

Malignant Salivary Gland Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Lip And Oral Cavity Carcinoma +

Nasopharyngeal Carcinoma +

Oropharyngeal Carcinoma +

Germ Cell Tumor +

Gastrointestinal Stromal Tumor +

Bronchogenic Carcinoma +

Dysembryoplastic Neuroepithelial Tumor +

Embryonal Rhabdomyosarcoma +

Gangliocytoma +

Malignant Laryngeal Neoplasm +

Neurofibromatosis Type 1 +

Rhabdoid Tumor +

Schwannoma +


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.