Overview

Gene Location [1]
7q34
Pathways
Kinase fusions, MAP kinase signaling
Variant Type
Substitution - Missense
Affected Exon Number
15
Gene
BRAF

Biomarker-Directed Therapies

Significance of BRAF V600E in Diseases

Melanoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Hairy Cell Leukemia +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Thyroid Gland Papillary Carcinoma +

Cholangiocarcinoma +

Pilocytic Astrocytoma +

Thyroid Gland Follicular Carcinoma +

Ganglioglioma +

Mature B-Cell Lymphoma/Leukemia +

Pleomorphic Xanthoastrocytoma +

Malignant Solid Tumor +

Multiple Myeloma +

Cutaneous Melanoma +

Low Grade Glioma +

Breast Carcinoma +

Glioma +

Ovarian Carcinoma +

Thyroid Gland Carcinoma +

Bladder Carcinoma +

Colorectal Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Malignant Glioma +

Melanoma Of Unknown Primary +

Adenocarcinoma Of The Gastroesophageal Junction +

Ameloblastoma +

Anaplastic Pleomorphic Xanthoastrocytoma +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cancer +

Cervical Carcinoma +

Chronic Lymphocytic Leukemia +

Colon Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Germ Cell Tumor +

Glioblastoma +

Head And Neck Squamous Cell Carcinoma +

Histiocytosis +

Hodgkin Lymphoma +

Lung Carcinoma +

Lymphoma +

Malignant Uterine Neoplasm +

Non-Hodgkin Lymphoma +

Optic Nerve Glioma +

Pancreatic Carcinoma +

Papillary Craniopharyngioma +

Poorly Differentiated Thyroid Gland Carcinoma +

Prostate Carcinoma +

Rectal Carcinoma +

Skin Squamous Cell Carcinoma +

Small Intestinal Adenocarcinoma +

Soft Tissue Sarcoma +

Splenic Diffuse Red Pulp Small B-Cell Lymphoma +

Thyroid Gland Squamous Cell 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.