MEN1

About MEN1

MEN1 on chromosome 11q13.1 encodes menin, a nuclear protein that interacts with many transcription factors and chromatin modifying complexes and acts as a tumor suppressor. Inherited loss of function variants cause multiple endocrine neoplasia type 1, an autosomal dominant syndrome characterized by tumors of the parathyroid glands, the pituitary gland, and the neuroendocrine cells of the pancreas and duodenum. Parathyroid overactivity causing high calcium levels is usually the first and most common feature. Tumors follow the two hit model of tumor suppressor genes, developing when the remaining normal copy is lost in a cell. Somatic MEN1 mutations are also found in some sporadic parathyroid and neuroendocrine tumors. Research on menin has also revealed its role in certain leukemias driven by KMT2A rearrangements, leading to the development of menin inhibitor drugs.