Document Detail

A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
MedLine Citation:
PMID:  9398735     Owner:  NLM     Status:  MEDLINE    
Specific mutations in the ret protooncogene have been found associated with multiple endocrine neoplasia type 2A (MEN 2A) and type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC). Mutations in one of five cysteine residues in the extracellular domain have been found in over 95% of families with MEN 2A and 88% of families with FMTC. In MEN 2B patients, a specific mutation at codon 918, substituting a threonine for a methionine, has been found in 95% of cases. In FMTC, in addition to the mutations of the extracellular cysteines, three intracellular base pair changes have been reported at codons 768 and 804. Here we describe a novel intracellular mutation in exon 15 of the ret gene that leads to the substitution of an alanine for a serine at codon 891 in a family with medullary thyroid carcinoma. This amino acid change may be important in determining substrate specificity or, alternatively, may play a role in ATP binding.
R M Hofstra; O Fattoruso; L Quadro; Y Wu; A Libroia; U Verga; V Colantuoni; C H Buys
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  82     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  1997 Dec 
Date Detail:
Created Date:  1998-01-13     Completed Date:  1998-01-13     Revised Date:  2012-06-04    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  4176-8     Citation Subset:  AIM; IM    
Department of Medical Genetics, University of Groningen, The Netherlands.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Carcinoma, Medullary / genetics*
Drosophila Proteins*
Exons / genetics
Extracellular Space / physiology*
Middle Aged
Point Mutation / genetics*
Proto-Oncogene Proteins / genetics*
Proto-Oncogene Proteins c-ret
Proto-Oncogenes / genetics*
Receptor Protein-Tyrosine Kinases / genetics*
Thyroid Neoplasms / genetics*
Reg. No./Substance:
0/Drosophila Proteins; 0/Proto-Oncogene Proteins; EC Proteins c-ret; EC Protein-Tyrosine Kinases; EC oncogene protein, Drosophila

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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