Exon 19 deletions意思

"Exon 19 deletions" is a term used in molecular biology and genetics, particularly in the context of mutations in the gene encoding a protein called epidermal growth factor receptor (EGFR). EGFR is a tyrosine kinase receptor that plays a crucial role in cell growth and division. Mutations in the EGFR gene have been associated with various cancers, particularly non-small cell lung cancer (NSCLC).

Exon 19 deletions refer to a specific type of mutation in the EGFR gene where a small piece of DNA, including a portion of exon 19, is deleted or missing. Exons are the parts of a gene that provide the code for making a protein, and when an piece of an exon is deleted, it can lead to a change in the amino acid sequence of the resulting protein.

In the context of EGFR, exon 19 deletions result in a shorter, altered version of the EGFR protein. This altered protein can be overactive, leading to uncontrolled cell growth and division, which can contribute to the development of cancer.

Exon 19 deletions are considered actionable mutations in NSCLC, meaning they can be targeted with specific treatments, such as tyrosine kinase inhibitors (TKIs) that block the activity of the mutated EGFR protein and can slow the growth of cancer cells.