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What are EGFR mutations?

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Quick Answer

EGFR mutations refer to abnormal changes in epidermal growth factor receptors, as Cancer.net explains. As these receptors play a role in regulating cellular growth and division, these abnormal changes may lead to some types of cancer. EGFR mutations are typically associated with non-small cell lung carcinomas.

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Full Answer

Epidermal growth factor receptors are proteins that play a critical role in relaying the signals that control cellular reproduction and growth, states EntroGen. These receptors generate tyrosine kinase, an enzyme that activates a chain of proteins known as the Ras-Raf-MAPK pathway. Epidermal growth factor receptor mutations can trigger excessive production of tyrosine kinase and result in the uncontrolled activation of the Ras-Raf-MAPK pathway.

This malfunction has been linked to 60 percent of all non-small cell lung carcinomas, as M.S. Tsao, G. Santos da Cunha and F.A. Shepherd explain in a paper for the Annual Review of Pathology. For this reason, treatments for these cancers frequently involve tyrosine kinase inhibitors. Clinical trials seem to show that for patients with advanced non-small cell carcinomas, initial treatment with these inhibitors rather than chemotherapy may be preferable.

As not all patients with non-small cell lung carcinomas have epidermal growth factor receptor mutations, prior testing is mandatory, explains Lab Tests Online. These tests check the genetic code of cancerous cells for signs of certain abnormal changes that trigger the mutation of epidermal growth factor receptors.

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