A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.
Oncogene
; 10(3): 509-13, 1995 Feb 02.
Article
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| MEDLINE
| ID: mdl-7845675
ABSTRACT
Germline mutations within one of six codons of the RET proto-oncogene account for the majority of cases of multiple endocrine neoplasia (MEN) type 2A and type 2B and familial medullary thyroid carcinoma (FMTC). MEN 2A and FMTC mutations characterised thus far occur exclusively in the cysteine-rich domain of the extracellular region of RET. We now report a missense mutation in the intracellular tyrosine kinase domain of RET in the germline of a family with FMTC that does not have a cysteine codon mutation. In this family, the mutation, which alters GAG (Glu) to GAC (Asp) at codon 768, segregates with the FMTC phenotype. The same mutation was also detected in sporadic MTC but not in corresponding constitutional DNA, confirming that it is likely to be of pathological significance rather than a rare polymorphism.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proto-Oncogenes
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Neoplasia Endocrina Múltiple
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Neoplasias de la Tiroides
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Proteínas Proto-Oncogénicas
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Mutación Puntual
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Proteínas Tirosina Quinasas Receptoras
/
Carcinoma Medular
/
Proteínas de Drosophila
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Oncogene
Asunto de la revista:
BIOLOGIA MOLECULAR
/
NEOPLASIAS
Año:
1995
Tipo del documento:
Article
País de afiliación:
Reino Unido