Question:
Cowden syndrome is associated with mutation of which gene?
Cowden syndrome is associated with mutation of which gene?
Show Hint
A tumour-suppressor phosphatase linked to hamartomas and breast or thyroid cancer.
Updated On: Jun 24, 2026
- P53
- PTEN
- Rb
- Ras
Show Solution
Verified By Collegedunia
The Correct Option is B
Solution and Explanation
Step 1: Cowden syndrome (multiple hamartoma syndrome) is an autosomal dominant condition and part of the PTEN hamartoma tumour syndrome. Step 2: It is caused by germline mutation of the PTEN gene, which normally acts as a tumour-suppressor phosphatase. Loss of PTEN function promotes uncontrolled cell growth. Step 3: Clinically it produces facial trichilemmomas, multiple GI hamartomatous polyps, and a very high lifetime risk of breast and thyroid carcinoma. Step 4: P53 (Li-Fraumeni), Rb (retinoblastoma) and Ras (a proto-oncogene) are other cancer genes but are not the defect in Cowden syndrome. Hence PTEN is correct.
Was this answer helpful?
0
0
Top NEET PG Pathology Questions
- Which of the following is true regarding the Mendelian mode of inheritance?
- A child presents with intermittent jaundice and splenomegaly. There is a history of similar complaints in the elder brother. Peripheral smear shows the following finding. How will you investigate this condition?
- An African child is found to have a mass in the jaw. A biopsy of the mass was done, and it appears as shown in the image below. The child also had a translocation of t(8;14). What is the probable diagnosis?
- A child presented to the hospital with cola-colored urine, hypertension, and puffiness of eyes. Laboratory investigations were done, and creatinine was 2.5 mg/dL. Treatment was started, and despite treatment, the patient did not improve for the next 3 weeks. The creatinine value increased to 4.5 mg/dL. Which among the following electron microscopic findings will be seen in this patient ?
- A patient was transfused 4 units of blood 2 hours ago, and now she complains of chest discomfort. X-ray shows bilateral fissural thickening. Which of the following is the most probable cause ?
View More Questions
Top NEET PG Neoplasia - Hereditary Cancer Syndromes Questions
Top NEET PG Questions
- A patient hailing from Delhi presents with fever, arthralgia, and extensive petechial rash for 3 days. Lab investigations revealed a hemoglobin of 9 g/ dL, a white blood cell count of 9000 cells/mm3, a platelet count of 20000 cells/mm3, and a prolonged bleeding time. The clotting time was normal. What is the most likely diagnosis?
- Which of the following statements is true about Trichomonas vaginalis?
- A lady from West Rajasthan presented with an ulcer surrounded by erythema on the right leg. Microscopy of the biopsy from the edge of the ulcer showed organisms with dark staining nuclei and kinetoplast. What is the most likely causative agent?
- A child presents with a fever and a rash. Urine examination showed cells with owl's eye appearance. What is the most likely diagnosis?
- Infection with Clonorchis sinensis is associated with an increased risk of__?
View More Questions