Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Gene Location [1]
7q34
Pathways
Kinase fusions, MAP kinase signaling
Gene
BRAF

Significance of BRAF Mutation in Diseases

Malignant Solid Tumor +

Melanoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Breast Carcinoma +

Cancer +

Pancreatic Carcinoma +

Gastric Carcinoma +

Glioma +

Ovarian Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cutaneous Melanoma +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Renal Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Urothelial Carcinoma +

Acute Myeloid Leukemia +

Cervical Carcinoma +

Chronic Myelomonocytic Leukemia +

Colon Carcinoma +

Colorectal Adenocarcinoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Low Grade Glioma +

Lung Carcinoma +

Lymphoma +

Multiple Myeloma +

Myelodysplastic Syndromes +

Pancreatic Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Thyroid Gland Carcinoma +

Astrocytic Tumor +

Bile Duct Carcinoma +

Bladder Carcinoma +

Bronchogenic Carcinoma +

Cervical Squamous Cell Carcinoma +

Cholangiocarcinoma +

Diffuse Glioma +

Dysembryoplastic Neuroepithelial Tumor +

Embryonal Rhabdomyosarcoma +

Endometrial Carcinoma +

Gallbladder Carcinoma +

Gangliocytoma +

Ganglioglioma +

Gastric Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Germ Cell Tumor +

Hepatobiliary Neoplasm +

Lip And Oral Cavity Carcinoma +

Low-Grade Neuroepithelial Tumor, NOS +

Malignant Hepatobiliary Neoplasm +

Malignant Laryngeal Neoplasm +

Malignant Peripheral Nerve Sheath Tumor +

Malignant Salivary Gland Neoplasm +

Malignant Uterine Neoplasm +

Melanoma Of Unknown Primary +

Merkel Cell Carcinoma +

Mucosal Melanoma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Neuroblastoma +

Neurofibromatosis Type 1 +

Neuronal And Mixed Neuronal-Glial Tumors +

Non-Squamous Non-Small Cell Lung Carcinoma +

Oropharyngeal Carcinoma +

Pilocytic Astrocytoma +

Pilomyxoid Astrocytoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Rhabdoid Tumor +

Schwannoma +

Squamous Cell Carcinoma +

Thymic Carcinoma +

Thyroid Gland Adenocarcinoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

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.