Overview

Gene Location [1]
7q34
Pathways
Kinase fusions, MAP kinase signaling
Variant Type
Substitution - Missense
Affected Exon Number
15
Gene
BRAF
Protein Domain [2]
Protein kinase
ClinVar Prediction [3]
Pathogenic

BRAF V600K is present in 0.13% of AACR GENIE cases, with melanoma, cutaneous melanoma, and melanoma of unknown primary having the greatest prevalence [4].

Top Disease Cases with BRAF V600K

Biomarker-Directed Therapies

Significance of BRAF V600K in Diseases

Melanoma +

Malignant Solid Tumor +

Colorectal Carcinoma +

Multiple Myeloma +

Non-Small Cell Lung Carcinoma +

Cutaneous Melanoma +

Glioma +

Thyroid Gland Carcinoma +

Bladder Carcinoma +

Low Grade Glioma +

Malignant Glioma +

Ovarian Carcinoma +

Thyroid Gland Adenocarcinoma +

Cancer +

Solid Neoplasm +

Adenocarcinoma Of The Gastroesophageal Junction +

Ameloblastoma +

Anaplastic Pleomorphic Xanthoastrocytoma +

Bile Duct Carcinoma +

Breast Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Cholangiocarcinoma +

Chronic Lymphocytic Leukemia +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Hairy Cell Leukemia +

Head And Neck Carcinoma +

Histiocytosis +

Langerhans Cell Histiocytosis +

Lung Carcinoma +

Malignant Uterine Neoplasm +

Melanoma Of Unknown Primary +

Metastatic Malignant Neoplasm In The Brain +

Neurofibroma +

Pancreatic Carcinoma +

Prostate Carcinoma +

Skin Squamous Cell Carcinoma +

Splenic Diffuse Red Pulp Small B-Cell Lymphoma +

Thyroid Gland Papillary Carcinoma +

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 6. 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.