[Multiple endocrine neoplasia 1 (MEN 1)].
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant familial cancer syndrome characterized by tumors in parathyroids, enteropancreatic endocrine tissues, and anterior pituitary. In 1997, the MEN 1 gene was identified and cloned. It is on chromosome 11q13 and has 10 exons. It encodes a 610 amino acid protein called MENIN. However, many different germline mutations in MEN 1 families have reported, there were no hotspot of mutation. The correlation between MEN 1 mutation and clinical datas has not been established yet. Recently, the possible function of MENIN protein has reported. The identification of MEN 1 mutation by employing DNA test, will facilitate early diagnosis and treatment.
Kameyama
K
K
Division of Diagnostic Pathology, Keio University Hospital.
Takami
H
H
D002880:Chromosomes, Human, Pair 11; D015408:Gastrinoma / Q000175:diagnosis / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D007340:Insulinoma / Q000175:diagnosis / Q000235:genetics; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics; D011518:Proto-Oncogene Proteins
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins