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Nat Genet. 1994 Jan;6(1):70-4.

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.

Author information

1
Department of Pathology, University of Cambridge, UK.

Abstract

We have analysed 118 families with inherited medullary thyroid carcinoma (MTC) for mutations of the RET proto-oncogene. These included cases of multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial MTC (FMTC). Mutations at one of 5 cysteines in the extracellular domain were found in 97% of patients with MEN 2A and 86% with FMTC but not in MEN 2B patients or normal controls. 84% of the MEN2A mutations affected codon 634. MEN 2A patients with a Cys634 to Arg substitution had a greater risk of developing parathyroid disease than those with other codon 634 mutations. Our data show a strong correlation between disease phenotype and the nature and position of the RET mutation, suggesting that a simple, constitutive activation of the RET tyrosine kinase is unlikely to explain the events leading to MEN 2A and FMTC.

PMID:
7907913
DOI:
10.1038/ng0194-70
[Indexed for MEDLINE]

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