Overview

Gene Location [1]
4p16.3
Pathways
Kinase fusions, Receptor tyrosine kinase/growth factor signaling
Gene
FGFR3

FGFR3 Mutation is present in 2.07% of AACR GENIE cases, with bladder carcinoma, colorectal adenocarcinoma, non-small cell lung carcinoma, melanoma, and urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with FGFR3 Mutation

Significance of FGFR3 Mutation in Diseases

Malignant Solid Tumor +

Urothelial Carcinoma +

Multiple Myeloma +

Cancer +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Glioma +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Anaplastic Astrocytoma +

Myeloproliferative Neoplasm +

Anaplastic Oligodendroglioma +

Gastric Carcinoma +

Glioblastoma +

Extrahepatic Cholangiocarcinoma +

Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

Intrahepatic Cholangiocarcinoma +

Cholangiocarcinoma +

Breast Carcinoma +

Small Cell Lung Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Diffuse Intrinsic Pontine Glioma +

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.