RET oncogene mutations in 75 cases of familial medullary thyroid carcinoma in Japan

Kaori Kameyama, Hiroko Okinaga, Hiroshi Takami

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

The familial form of medullary thyroid carcinoma (MTC) is caused by mutations of the RET protooncogene. We registered 60 multiple endocrine neoplasia (MEN) 2A patients, 12 familial non-MEN medullary carcinoma (FMTC) patients, and three MEN2B patients with a confirmed RET germline mutation. All 60 MEN2A patients had RET mutations in a cysteine-rich domain. Seven of the FMTC patients had a mutation in cysteine-rich domain, and the other five had a mutation in codon 768, which encodes a tyrosine-kinase domain. Two of the MEN2B patients had a mutation in codon 918, and one patient had a double mutation, one in codon 804 and the other in codon 806, both of which are all encoded tyrosine-kinase domain. The genotype-phenotype correlations of our data will allow individualized recommendations for the optimal timing of prophylactic surgery.

Original languageEnglish
Pages (from-to)345-347
Number of pages3
JournalBiomedicine and Pharmacotherapy
Volume58
Issue number6-7
DOIs
Publication statusPublished - 2004 Jun

Fingerprint

Oncogenes
Japan
Mutation
Codon
Protein-Tyrosine Kinases
Cysteine
Multiple Endocrine Neoplasia
Medullary Carcinoma
Germ-Line Mutation
Genetic Association Studies
Familial medullary thyroid carcinoma
Neoplasms

Keywords

  • Familial cancer
  • Medullary thyroid carcinoma
  • RET protooncogene

ASJC Scopus subject areas

  • Pharmacology

Cite this

RET oncogene mutations in 75 cases of familial medullary thyroid carcinoma in Japan. / Kameyama, Kaori; Okinaga, Hiroko; Takami, Hiroshi.

In: Biomedicine and Pharmacotherapy, Vol. 58, No. 6-7, 06.2004, p. 345-347.

Research output: Contribution to journalArticle

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