Question:
Cowden syndrome is associated with mutation in
Cowden syndrome is associated with mutation in
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Cowden is the prototype PTEN hamartoma tumour syndrome with high breast and thyroid cancer risk.
Updated On: Jun 23, 2026
- P53
- PTEN
- Rb
- Ras
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The Correct Option is B
Solution and Explanation
Step 1: Cowden syndrome (multiple hamartoma syndrome) is an autosomal dominant condition and is part of the PTEN hamartoma tumour syndrome.
Step 2: It is caused by a germline mutation in the PTEN gene (Phosphatase and Tensin homolog), a tumour suppressor. Loss of PTEN function promotes tumour development. The answer is PTEN.
Step 3: Clinical features include trichilemmomas (multiple hair follicle tumours on the face), multiple hamartomatous GI polyps, and a markedly increased risk of breast and thyroid carcinoma. Prophylactic bilateral mastectomy may be considered, and repeated breast irradiation/mammography is generally avoided.
Step 4: Why the distractors are wrong: P53 mutation underlies Li-Fraumeni syndrome. Rb mutation underlies hereditary retinoblastoma. Ras is a proto-oncogene activated in many sporadic cancers, not the cause of Cowden syndrome.
Step 2: It is caused by a germline mutation in the PTEN gene (Phosphatase and Tensin homolog), a tumour suppressor. Loss of PTEN function promotes tumour development. The answer is PTEN.
Step 3: Clinical features include trichilemmomas (multiple hair follicle tumours on the face), multiple hamartomatous GI polyps, and a markedly increased risk of breast and thyroid carcinoma. Prophylactic bilateral mastectomy may be considered, and repeated breast irradiation/mammography is generally avoided.
Step 4: Why the distractors are wrong: P53 mutation underlies Li-Fraumeni syndrome. Rb mutation underlies hereditary retinoblastoma. Ras is a proto-oncogene activated in many sporadic cancers, not the cause of Cowden syndrome.
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