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A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation

Choi YS, Kwon HJ, Kim BK, Kwon SK, Park YH, Kim JH, Jung SB, Lee CH, Lee SK, Uchino S

Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in...
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A Korean Family of Familial Medullary Thyroid Cancer with Cys618Ser RET Germline Mutation

Jung J, Uchino S, Lee Y, Park H

Familial medullary thyroid carcinoma (FMTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. An identifiable RET mutation can be detected in about 85% of FMTC families. The...
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Menin Mutational Analysis in a MEN I Family

Lee KD, Kim JY, Mun HS, Choi SH, Lee HH, Choi YS, Park YH, Uchino S

  • KMID: 2276365
  • Korean J Otolaryngol-Head Neck Surg.
  • 2005 Mar;48(3):347-351.
BACKGROUND AND OBJECTIVES: MEN I is an autosomal dominant disorder characterized by multiple tumors occurring in the parathyroid, pituitary, and pancreas. There is a variety of mutations in MEN I...
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Analysis of RET Gene Point Mutation in a Family with Familial Medullary Thyroid Carcinoma

Lee KD, Mun HS, Kim JY, Chung H, Choi SH, Ha NW, Uchino S

  • KMID: 2276221
  • Korean J Otolaryngol-Head Neck Surg.
  • 2004 Sep;47(9):904-910.
BACKGROUND AND OBJECTIVES: Hereditary medullary thyroid carcinoma is presented as a part of MEN2A (65-75%) or MEN2B, but can also be inherited alone, which is called familial medullary thyroid carcinoma....
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A Case of Multiple Endocrine Neoplasia Associated with VIPoma

Lee SW, Choi YS, Park YH, Oh KS, Shin JW, Kim IJ, Uchino S

Multiple endocrine neoplasia I(MEN I) is a genetic disorder that consists of neoplasia of neuroendocrine type in the parathyroid glands, in the islets of Langerhans in the pancreas, and in...
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