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Article

A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case.

Endocrine journal - 1 Aug 2007

Yonekawa Hiroyuki, Sugitani Iwao, Fujimoto Yoshihide, Arai Masami, Yamamoto Noriko

Abstract excerpt

Since the majority of multiple endocrine neoplasia type 2A (MEN 2A) patients have missense mutations at codon 634 and those with the Cys630 RET genotype mutations are extremely rare, limited clinical information is available about this rare type. We report here three members of one Japanese MEN 2A family with the Cys630Tyr genotype. A 67-year-old woman presented a firm thyroid nodule, and preoperative examination...

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Identifiers

PMID: 17527003
DOI: 10.1507/endocrj.k06-145

Genes

RET

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Related research

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A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case.PMID 17527003Read ↗

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[Phenotype of the C634Y mutation in the RET proto-oncogene in MEN2A: report of a family].Semantic proximity Read ↗

Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.Semantic proximity Read ↗

RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome.Semantic proximity Read ↗

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