PMID- 11295574 OWN - NLM STAT- MEDLINE DCOM- 20010705 LR - 20191025 IS - 1043-2760 (Print) IS - 1043-2760 (Linking) VI - 12 IP - 4 DP - 2001 May-Jun TI - Multiple endocrine neoplasia type 1: new clinical and basic findings. PG - 173-8 AB - Multiple endocrine neoplasia type 1 (MEN1) provides a prime example of how a rare disease can advance our understanding of basic cell biology, neoplasia and common endocrine tumors. MEN1 is expressed mainly as parathyroid, enteropancreatic neuroendocrine, anterior pituitary and foregut carcinoid tumors. It is an autosomal dominant disease caused by mutation of the MEN1 gene. Since its identification, the MEN1 gene has been implicated in many common endocrine and non-endocrine tumors. This is a brief overview of recent scientific advances relating to MEN1, including newly recognized clinical features that are now better characterized by genetic analysis, insights into the function of the MEN1-encoded protein menin, and refined recommendations for mutation testing and tumor screening, which highlight our increasing understanding of this complex syndrome. FAU - Schussheim, D H AU - Schussheim DH AD - Metabolic Diseases Branch, NIDDK, NIH, 20892, Bethesda, MD 20892, USA. dh208@columbia.edu FAU - Skarulis, M C AU - Skarulis MC FAU - Agarwal, S K AU - Agarwal SK FAU - Simonds, W F AU - Simonds WF FAU - Burns, A L AU - Burns AL FAU - Spiegel, A M AU - Spiegel AM FAU - Marx, S J AU - Marx SJ LA - eng PT - Journal Article PT - Review PL - United States TA - Trends Endocrinol Metab JT - Trends in endocrinology and metabolism: TEM JID - 9001516 RN - 0 (MEN1 protein, human) RN - 0 (Neoplasm Proteins) RN - 0 (Proto-Oncogene Proteins) SB - IM MH - Adrenal Cortex Neoplasms/genetics MH - Angiofibroma/genetics MH - Humans MH - Leiomyoma/genetics MH - *Multiple Endocrine Neoplasia Type 1/genetics MH - Mutation MH - Neoplasm Proteins/genetics/physiology MH - Pheochromocytoma/genetics MH - *Proto-Oncogene Proteins MH - Skin Neoplasms/genetics MH - Thyroid Neoplasms/genetics RF - 69 EDAT- 2001/04/11 10:00 MHDA- 2001/07/06 10:01 CRDT- 2001/04/11 10:00 PHST- 2001/04/11 10:00 [pubmed] PHST- 2001/07/06 10:01 [medline] PHST- 2001/04/11 10:00 [entrez] AID - S1043-2760(00)00372-6 [pii] AID - 10.1016/s1043-2760(00)00372-6 [doi] PST - ppublish SO - Trends Endocrinol Metab. 2001 May-Jun;12(4):173-8. doi: 10.1016/s1043-2760(00)00372-6.