When a piece of DNA is missing, from a few letters to an entire gene. Deleting a tumour suppressor gene removes one of the cell's brakes.
Small deletions within a gene can either disable the protein (a frameshift that garbles the rest of the recipe) or, more rarely, activate it, as with the EGFR exon 19 deletions that make lung cancers sensitive to osimertinib. Large deletions remove whole genes, and losing both copies of a tumour suppressor such as PTEN, CDKN2A or RB1 is a frequent driver event. Some deletions create drug vulnerabilities: tumours that have lost MTAP become dependent on the enzyme PRMT5, an example of synthetic lethality.
In plain words · A growth receptor that is mutated in some lung cancers and overproduced in others; the first great success of targeted pills.
Showing the target this term concerns: EGFR.
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