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.
|ジャーナル||Nippon rinsho. Japanese journal of clinical medicine|
|出版ステータス||Published - 2000 7月|
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