Overview

Gene Location [1]
7q34
Pathways
Kinase fusions, MAP kinase signaling
Variant Type
Substitution - Missense
Gene
BRAF

BRAF Codon 600 Missense is present in 3.22% of AACR GENIE cases, with melanoma, colorectal adenocarcinoma, thyroid gland neoplasm, non-small cell lung carcinoma, and malignant glioma having the greatest prevalence [4].

Top Disease Cases with BRAF Codon 600 Missense

Biomarker-Directed Therapies

Significance of BRAF Codon 600 Missense in Diseases

Erdheim-Chester Disease +

Melanoma +

Malignant Solid Tumor +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Multiple Myeloma +

Glioma +

Hairy Cell Leukemia +

Melanoma Of Unknown Primary +

Cutaneous Melanoma +

Thyroid Gland Carcinoma +

Mucosal Melanoma +

Malignant Glioma +

Cholangiocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Gastrointestinal Stromal Tumor +

Chronic Lymphocytic Leukemia +

Bladder Carcinoma +

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Neurofibromatosis Type 1 +

Ovarian Carcinoma +

Prostate Carcinoma +

Splenic Diffuse Red Pulp Small B-Cell Lymphoma +

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.