Gene Location [1]
Receptor tyrosine kinase/growth factor signaling, Kinase fusions

FGFR3 Mutation is present in 1.82% of AACR GENIE cases, with bladder urothelial carcinoma, colon adenocarcinoma, lung adenocarcinoma, infiltrating renal pelvis and ureter urothelial carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with FGFR3 Mutation

Significance of FGFR3 Mutation in Diseases

Malignant Solid Tumor +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Cholangiocarcinoma +

Cancer +

Multiple Myeloma +

Bladder Carcinoma +

Breast Carcinoma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Colorectal Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Sarcoma +

Non-Hodgkin Lymphoma +

Renal Pelvis And Ureter Carcinoma +

Bladder Urothelial Carcinoma +

Anaplastic Oligodendroglioma +

Melanoma +

Malignant Uterine Neoplasm +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

Glioblastoma +

Glioma +

Extrahepatic Cholangiocarcinoma +

Ovarian Carcinoma +

Lung Carcinoma +

Cervical Carcinoma +

Small Cell Lung Carcinoma +

Intrahepatic Cholangiocarcinoma +

Bile Duct Carcinoma +

Soft Tissue Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Esophageal Squamous Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Pancreatic Carcinoma +

Gallbladder Carcinoma +

Bronchogenic Carcinoma +

Myeloproliferative Neoplasm +

Non-Muscle Invasive Bladder Carcinoma +


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.