Medicine · Diabetes Mellitus and Endocrine Disorders (Thyroid, Adrenal, Pituitary, Parathyroid)

The genetic mutation responsible for MEN type 1 lies in which gene, encoding which protein?

  • A RET proto-oncogene, encoding a tyrosine kinase receptor
  • B MEN1 gene, encoding the tumour suppressor protein menin
  • C VHL gene, encoding a component of the ubiquitin ligase complex
  • D CDKN1B gene, encoding p27/Kip1
Correct answer: B. MEN1 gene, encoding the tumour suppressor protein menin

Explanation

MEN1 is caused by inactivating mutations of the MEN1 gene on chromosome 11q13, which encodes menin, a nuclear tumour suppressor. It produces tumours of parathyroid, anterior pituitary, and pancreatic neuroendocrine cells. RET mutations cause MEN2, VHL causes von Hippel-Lindau disease, and CDKN1B causes MEN4, a rare mimic that kills those distractors.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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