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ID 111690
タイトル別表記
RET MUTATIONS IN PHEOCHROMOCYTOMAS
著者
田中, 知里 The University of Tokushima KAKEN研究者をさがす
Hamaguchi, Sachiko The University of Tokushima
Kimura, Takehiko The University of Tokushima
Iwahana, Hiroyuki The University of Tokushima
Miyauchi, Akira Kagawa Medical School
キーワード
RET proto-oncogene
Mutation
Pheochromocytoma
MEN 2A
MEN 2B
資料タイプ
学術雑誌論文
抄録
Sporadic pheochromocytomas, sporadic medullary thyroid carcinomas (MTCs), pheochromocytomas and/or MTCs in multiple endocrine neoplasia (MEN) 2A or 2B were screened for mutations in the tyrosine kinase domain of the RET proto-oncogene by direct sequencing of PCR-amplified products or sequencing subcloned DNAs from PCR-products. All tumors of 4 MEN 2B patients were confirmed to contain a heterozygous missense mutation at codon 918 (ATG→ACG; Met→Thr) of the RET proto-oncogene as well as their leukocytes. The same tumor-specific mutations at codon 918 were also found in 5/16 (31%) sporadic pheochromocytomas. These results suggest that mutations of the RET proto-oncogene in its tyrosine kinase domain play a role not only as the predisposing gene for MEN 2B, but also as a tumorigenic factor for pheochromocytomas of sporadic type.
掲載誌名
Endocrine Journal
ISSN
13484540
09188959
cat書誌ID
AA12020190
AA10901436
出版者
The Japan Endocrine Society
42
2
開始ページ
265
終了ページ
270
発行日
1995
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
歯学系
先端酵素学研究所
病院