Overview

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

BRAF Mutation is present in 5.43% of AACR GENIE cases, with melanoma, colorectal adenocarcinoma, non-small cell lung carcinoma, thyroid gland neoplasm, and malignant glioma 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 +

Multiple Myeloma +

Cancer +

Glioma +

Lymphoma +

Non-Hodgkin Lymphoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Colorectal Adenocarcinoma +

Neuroblastoma +

Squamous Cell Lung Carcinoma +

Gastric Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Esophageal Carcinoma +

Neurofibromatosis Type 1 +

Pancreatic Ductal Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Thyroid Gland Carcinoma +

Thyroid Gland Adenocarcinoma +

Colon Carcinoma +

Urothelial Carcinoma +

Endometrial Carcinoma +

Malignant Salivary Gland Neoplasm +

Lung Carcinoma +

Thymic Carcinoma +

Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Cervical Squamous Cell Carcinoma +

Esophageal Squamous Cell Carcinoma +

Pancreatic Adenocarcinoma +

Nasopharyngeal Carcinoma +

Malignant Peripheral Nerve Sheath Tumor +

Head And Neck Carcinoma +

Soft Tissue Sarcoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Solid Neoplasm +

Gastrointestinal Stromal Tumor +

Renal Cell Carcinoma +

Germ Cell Tumor +

Hepatobiliary Neoplasm +

Lip And Oral Cavity Carcinoma +

Malignant Laryngeal Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Oropharyngeal Carcinoma +

Ovarian Carcinoma +

Rhabdoid Tumor +

Rhabdomyosarcoma +

Schwannoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.