| A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. | |
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MedLine Citation:
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PMID: 9398735 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R M Hofstra; O Fattoruso; L Quadro; Y Wu; A Libroia; U Verga; V Colantuoni; C H Buys |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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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:
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Created Date: 1998-01-13 Completed Date: 1998-01-13 Revised Date: 2012-06-04 |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 4176-8 Citation Subset: AIM; IM |
Affiliation:
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Department of Medical Genetics, University of Groningen, The Netherlands. R.M.W.Hofstra@med.rug.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Base Sequence Carcinoma, Medullary / genetics* Drosophila Proteins* Exons / genetics Extracellular Space / physiology* Female Humans Male Middle Aged Pedigree Point Mutation / genetics* Proto-Oncogene Proteins / genetics* Proto-Oncogene Proteins c-ret Proto-Oncogenes / genetics* Receptor Protein-Tyrosine Kinases / genetics* Thyroid Neoplasms / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Drosophila Proteins; 0/Proto-Oncogene Proteins; EC 2.7.10.1/Proto-Oncogene Proteins c-ret; EC 2.7.10.1/Receptor Protein-Tyrosine Kinases; EC 2.7.10.1/Ret oncogene protein, Drosophila |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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