期刊
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
卷 29, 期 3, 页码 541-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/S0889-8529(05)70150-X
关键词
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Multiple Endocrine Neoplasia Type 1 (MEN-1) is an autosomal dominant disorder characterized by the combined occurrence of tumors of the parathyroids, pancreatic islet cells, and anterior pituitary. Other MEN-1-associated tumors include angiofibromas, collagenomas, lipomas, carcinoids, and adrenal cortical tumors. The MEN1 gene, which represents a putative tumor suppressor gene, was identified in 1997, and more than 340 mutations have been reported in MEN-1 families, patients with nonfamilial MEN1, families with isolated primary hyperparathyroidism, and sporadic non-MEN-1 endocrine tumors. The mutations have been scattered throughout the nine exons that encode a 610 amino acid-nuclear protein, MENIN, which interacts with the transcriptional factor, JunD. These recent developments have made it possible to consider genetic screening for this inherited disorder.
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