The phrase "Epidermal Growth Factor Receptor Genes" is spelled using the International Phonetic Alphabet (IPA) as /ɛˈpɪdərməl ɡroʊθ ˈfæktər rɪˈsɛptər dʒinz/. The word "epidermal" is pronounced with stress on the first syllable and with a short "e" sound, while "growth" is pronounced with stress on the second syllable and a long "o" sound. "Receptor" is pronounced with stress on the second syllable and a distinct "ep" sound at the beginning of the word. "Genes" is pronounced with a soft "g" sound and a long "e" sound.
The Epidermal Growth Factor Receptor Genes refer to a set of genes that encode proteins known as epidermal growth factor receptors (EGFRs). These receptors are found on the surface of cells and are responsible for transmitting signals from the external environment into the cell, thus playing a crucial role in regulating cell growth, division, and survival.
The EGFR genes encode a family of four transmembrane receptor tyrosine kinases, denoted as EGFR / ERBB1, ERBB2 / HER2 / NEU, ERBB3 / HER3, and ERBB4 / HER4. These receptors are activated upon binding with epidermal growth factor (EGF) or various other ligands, triggering a cascade of intracellular signaling pathways. Such pathways ultimately lead to the activation of various genes involved in cell proliferation, differentiation, migration, and survival.
Alterations in the EGFR genes can have significant implications in cellular function and development. Mutations in these genes have been associated with various cancers, including lung, colorectal, and breast cancers. Consequently, targeted therapies that inhibit EGFR signaling have been developed, including small-molecule tyrosine kinase inhibitors and monoclonal antibodies, to block the abnormal signaling pathways and impede cancer growth.
Furthermore, EGFR gene amplification and overexpression have also been observed in tumors, indicating a potential role in the development and progression of cancer. As a result, the EGFR gene expression levels or activity status are often evaluated in clinical settings, aiding in the diagnosis, prognosis, and treatment selection for certain types of cancers.