Question:medium
Cowden syndrome is associated with mutation of which gene?
Cowden syndrome is associated with mutation of which gene?
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A tumour-suppressor phosphatase linked to hamartomas and breast or thyroid cancer.
Updated On: Jun 24, 2026
- P53
- PTEN
- Rb
- Ras
Show Solution
The Correct Option is B
Solution and Explanation
Step 1: The clue is a hereditary syndrome with hamartomas plus high breast and thyroid cancer risk. Step 2: That picture defines the PTEN hamartoma tumour syndrome, of which Cowden syndrome is the prototype. Step 3: $PTEN$ encodes a phosphatase that switches off the PI3K-AKT growth pathway; an inactivating germline mutation lifts this brake and drives tumour formation, explaining the trichilemmomas and polyps. Step 4: The other choices map to different syndromes: $P53$ to Li-Fraumeni, $Rb$ to familial retinoblastoma, and $Ras$ is an oncogene that is activated rather than lost. So the responsible gene is PTEN.\[\boxed{\text{PTEN}}\]
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