Overview

Gene Location [1]
8p11.23
Pathways
Receptor tyrosine kinase/growth factor signaling, Kinase fusions
Variant Type
Fusion
Gene
FGFR1

FGFR1 Fusion is present in 0.18% of AACR GENIE cases, with breast invasive ductal carcinoma, colon adenocarcinoma, prostate adenocarcinoma, invasive breast carcinoma, and lung adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with FGFR1 Fusion

Significance of FGFR1 Fusion in Diseases

Malignant Solid Tumor +

Urothelial Carcinoma +

Acute Lymphoblastic Leukemia +

Non-Small Cell Lung Carcinoma +

Cholangiocarcinoma +

B-Cell Acute Lymphoblastic Leukemia +

Cancer +

Gastric Carcinoma +

Squamous Cell Lung Carcinoma +

Endometrial Carcinoma +

Acute Myeloid Leukemia +

Multiple Myeloma +

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Sarcoma +

Gastrointestinal Stromal Tumor +

Bladder Carcinoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic Syndromes +

Oropharyngeal Carcinoma +

Lip And Oral Cavity Carcinoma +

Esophageal Carcinoma +

Colorectal Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma +

Anaplastic Oligodendroglioma +

B-Cell Lymphoblastic Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Extrahepatic Cholangiocarcinoma +

Glioblastoma +

Hematopoietic And Lymphoid Malignancy +

Hepatobiliary Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Intrahepatic Cholangiocarcinoma +

Lymphoblastic Lymphoma +

Lymphocytic Neoplasm +

Malignant Hepatobiliary Neoplasm +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Myeloid Neoplasm +

Myeloproliferative Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Non-Hodgkin Lymphoma +

Non-Muscle Invasive Bladder Carcinoma +

Secondary Acute Myeloid Leukemia +

Small Cell Lung Carcinoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

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.