Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

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

BRAF V600E is present in 2.72% of AACR GENIE cases, with colon adenocarcinoma, thyroid gland papillary carcinoma, cutaneous melanoma, melanoma, and lung adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with BRAF V600E

Biomarker-Directed Therapies

Significance of BRAF V600E in Diseases

Melanoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Hairy Cell Leukemia +

Thyroid Gland Papillary Carcinoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Pilocytic Astrocytoma +

Thyroid Gland Follicular Carcinoma +

Pleomorphic Xanthoastrocytoma +

Ganglioglioma +

Mature B-Cell Lymphoma/Leukemia +

Malignant Solid Tumor +

Glioma +

Multiple Myeloma +

Thyroid Gland Carcinoma +

Cutaneous Melanoma +

Colorectal Adenocarcinoma +

Low Grade Glioma +

Ovarian Carcinoma +

Thyroid Gland Adenocarcinoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Cancer +

Malignant Glioma +

Cholangiocarcinoma +

Breast Carcinoma +

Bladder Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Histiocytosis +

Non-Hodgkin Lymphoma +

Prostate Carcinoma +

Anaplastic Pleomorphic Xanthoastrocytoma +

Langerhans Cell Histiocytosis +

Colon Adenocarcinoma +

Solid Neoplasm +

Glioblastoma +

Rectal Carcinoma +

Bile Duct Carcinoma +

Lung Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ameloblastoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Chronic Lymphocytic Leukemia +

Esophageal Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Germ Cell Tumor +

Head And Neck Squamous Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Hodgkin Lymphoma +

Malignant Uterine Neoplasm +

Melanoma Of Unknown Primary +

Metastatic Malignant Neoplasm In The Brain +

Neurofibroma +

Optic Nerve Glioma +

Papillary Craniopharyngioma +

Primary Peritoneal Carcinoma +

Skin Squamous Cell Carcinoma +

Small Intestinal Adenocarcinoma +

Splenic Diffuse Red Pulp Small B-Cell Lymphoma +

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.