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

FGFR1 Mutation is present in 1.20% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and conventional glioblastoma multiforme having the greatest prevalence [4].

Top Disease Cases with FGFR1 Mutation

Significance of FGFR1 Mutation in Diseases

Malignant Solid Tumor +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Cholangiocarcinoma +

Cancer +

Breast Carcinoma +

Endometrial Carcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Squamous Cell Lung Carcinoma +

Multiple Myeloma +

Bladder Carcinoma +

Gastric Adenocarcinoma +

Colorectal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Gastrointestinal Stromal Tumor +

Non-Hodgkin Lymphoma +

Dysembryoplastic Neuroepithelial Tumor +

Pilomyxoid Astrocytoma +

Neuronal And Mixed Neuronal-Glial Tumors +

Pilocytic Astrocytoma +

Anaplastic Oligodendroglioma +

Ganglioglioma +

Low Grade Glioma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Glioma +

Astrocytic Tumor +

Glioblastoma +

Diffuse Glioma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Melanoma +

Malignant Uterine Neoplasm +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Anaplastic Astrocytoma +

Ovarian Carcinoma +

Lung Carcinoma +

Gallbladder Carcinoma +

Oropharyngeal Carcinoma +

Head And Neck Carcinoma +

Pancreatic Adenocarcinoma +

Extrahepatic Cholangiocarcinoma +

Soft Tissue Sarcoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Lip And Oral Cavity Carcinoma +

Bile Duct Carcinoma +

Intrahepatic Cholangiocarcinoma +

Myeloproliferative Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Malignant Salivary Gland Neoplasm +

Bronchogenic Carcinoma +

Gangliocytoma +

Histiocytic And Dendritic Cell Neoplasm +

Low-Grade Neuroepithelial Tumor, NOS +

Malignant Laryngeal Neoplasm +

Nasopharyngeal Carcinoma +

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.