What is FGFR mutation?
FGFR3 gene mutations change single amino acids in the FGFR3 protein, which appears to overactivate protein signaling. As a result, bladder cells are likely directed to grow and divide abnormally. This uncontrolled cell division leads to the formation of bladder cancer.
What is the FGFR gene?
A gene that makes a protein that is involved in cell division, cell maturation, formation of new blood vessels, wound healing, and bone growth, development, and maintenance. A mutation (change) in the FGFR3 gene may cause the FGFR3 protein to become overactive in certain bone disorders, genetic conditions, and cancers.
What is an FGFR inhibitor?
Fibroblast growth factor receptor (FGFR) inhibitor; FGFRs are a family of receptor tyrosine kinases. Inhibition of FGFR phosphorylation and signaling decreases cell viability in cell lines expressing FGFR genetic alterations, including point mutations, amplifications, and fusions.
What is FGFR test?
Genetics Test Information This test is an FDA-approved assay for the evaluation of somatic mutations and fusions in the FGFR3 and FGFR2 genes to identify urothelial carcinoma patients that may be eligible for treatment with FGFR-targeted therapies such as Balversa (erdafitinib).
What does the gene fgfrl1 Do Why is this important?
Signaling through the FGFR1 protein plays a critical role in the formation, survival, and movement (migration) of nerve cells (neurons) in several areas of in the brain. In particular, this signaling appears to be essential for neurons that produce a hormone called gonadotropin-releasing hormone (GnRH).
How does FGFR3 cause achondroplasia?
Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.
What is the function of FGFR2?
The FGFR2 protein plays an important role in bone growth, particularly during development before birth (embryonic development). For example, this protein signals certain immature cells in the developing embryo to become bone cells and form the head, hands, feet, and other tissues.
Is Erdafitinib FDA approved?
On April 12, 2019, the US Food and Drug Administration (FDA) accelerated the approval of erdafitinib (Balversa; Janssen) for the treatment of adults with locally advanced or metastatic urothelial carcinoma and susceptible FGFR3 or FGFR2 genetic alterations that progressed during or after ≥1 lines of platinum-containing …
What is the function of FGFR1?
UniProtKB/Swiss-Prot Summary for FGFR1 Gene Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration.
What is met gene?
A gene that makes a protein that is involved in sending signals within cells and in cell growth and survival. Mutated (changed) forms of the MET gene may cause abnormal cells to grow and spread in the body.
What do we know about FGFR alterations in human cancer?
Fibroblast growth factor receptor (FGFR) alterations in human cancer. FGFR genes are activated in human cancer as a result of gene amplification, coding mutation and gene fusion. FGFR gene fusions are further classified into two groups. Type 1 FGFR fusions in hematological malignancies encode non-transmembrane-type FGFR kinases.
What are FGFR1 and FGFR2 mutations in breast cancer?
FGFR1 gene amplifications and FGFR2 gain-of-function missense mutations are detected in circulating tumor cells of two cases and one case of breast cancer patients, respectively ( 42]
What are the most common therapies for FGFR1 mutation?
Pemigatinib, erdafitinib, infigratinib, sunitinib, and atezolizumab are the most frequent therapies in trials with FGFR1 Mutation as an inclusion criteria [ 5 ]. Malignant Solid Tumor + FGFR1 is altered in 3.94% of malignant solid tumor patients with FGFR1 Mutation present in 1.29% of all malignant solid tumor patients [ 4 ].
What is the ligand of FGFR?
Similar to other receptor tyrosine kinases (RTKs), FGFRs are expressed on the cell membrane and can be stimulated and activated by extracellular signals. The native ligand of FGFRs is fibroblast growth factors (FGFs) [2,3,4].