FGFR2

THIS GENE REQUIRES GENETIC COUNSELING AND/OR PHYSICIAN SUPPORT

The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2. This protein is one of four fibroblast growth factor receptors, which are related proteins that are involved in important processes such as cell division, regulation of cell growth and maturation, the formation of blood vessels, wound healing, and embryonic development.

The FGFR2 protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning allows the FGFR2 protein to interact with specific growth factors outside the cell and to receive signals that help the cell respond to its environment. When growth factors attach to the FGFR2 protein, the receptor triggers a cascade of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions. 

There is increasing evidence indicates that this pathway plays a critical role in oncogenesis via gene amplification, activating mutations, or translocation in tumors of various histologies. Knowing your carrier status in this gene will assist you to choose the right inventions.