Overview

Location [1]
5q35.2
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Fibroblast growth factor receptor 4
Synonyms [1]
JTK2, TKF, CD334

Fibroblast growth factor receptor 4 (FGFR4) is a gene that encodes a protein with a tyrosine kinase domain and three immunoglobulin-like domains. The protein functions in mitogenesis and differentiation. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

FGFR4 is altered in 1.76% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

FGFR4 GENIE Cases - Top Diseases

The most common alterations in FGFR4 are FGFR4 Mutation (1.42%), FGFR4 Amplification (0.18%), FGFR4 Loss (0.10%), FGFR4 Fusion (0.03%), and FGFR4 V550L (0.03%) [3].

FGFR4 GENIE Cases - Top Alterations

Significance of FGFR4 in Diseases

Malignant Solid Tumor +

Acute Lymphoblastic Leukemia +

Urothelial Carcinoma +

B-Cell Acute Lymphoblastic Leukemia +

Cholangiocarcinoma +

Cancer +

Breast Carcinoma +

Acute Myeloid Leukemia +

Gastric Carcinoma +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

Myelodysplastic Syndromes +

Mixed Phenotype Acute Leukemia +

Endometrial Carcinoma +

Transitional Cell Carcinoma +

Glioblastoma +

Non-Small Cell Lung Carcinoma +

Anaplastic Astrocytoma +

Invasive Breast Carcinoma +

Sarcoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Intrahepatic Cholangiocarcinoma +

Extrahepatic Cholangiocarcinoma +

Squamous Cell Lung Carcinoma +

Anaplastic Oligodendroglioma +

Lymphocytic Neoplasm +

Gastrointestinal Stromal Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Myeloid Neoplasm +

B-Cell Lymphoblastic Lymphoma +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Lymphoblastic Lymphoma +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Myeloproliferative Neoplasm +

Non-Muscle Invasive Bladder Carcinoma +

Secondary Acute Myeloid Leukemia +

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. 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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.