Article
RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors.
Thyroid : official journal of the American Thyroid Association - 1 Jun 2005
Kouvaraki Maria A, Shapiro Suzanne E, Perrier Nancy D, Cote Gilbert J, Gagel Robert F, Hoff Ana O, Sherman Steven I, Lee Jeffrey E, Evans Douglas B
Abstract excerpt
Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six exons (10, 11, 13, 14, 15, and 16) located in either cysteine-rich or tyrosine kinase domains...
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