A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
作者： Robert M. W. Hofstra , Olimpia Fattoruso , Loredana Quadro , Ying Wu , Alfonso Libroia
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摘要: Specific mutations in the ret protooncogene have been found associated with multiple endocrine neoplasia type 2A (MEN 2A) and 2B 2B) familial medullary thyroid carcinoma (FMTC). Mutations one of five cysteine residues extracellular domain over 95% families MEN 88% FMTC. In patients, a specific mutation at codon 918, substituting threonine for methionine, has cases. FMTC, addition to cysteines, three intracellular base pair changes reported codons 768 804. Here we describe novel exon 15 gene that leads substitution an alanine serine 891 family carcinoma. This amino acid change may be important determining substrate specificity or, alternatively, play role ATP binding.
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