A Novel Germ-Line Point Mutation in RET Exon 8 (Gly533Cys) in a Large Kindred with Familial Medullary Thyroid Carcinoma

• Published in: The journal of clinical endocrinology and metabolism Vol. 88; no. 11; pp. 5438 - 5443
• Main Authors: Álvares Da Silva, Adriana M., Maciel, Rui M. B., Dias Da Silva, Magnus R., Toledo, Silvia R. C., De Carvalho, Marcos B., Cerutti, Janete M.
• Format: Journal Article
• Language: English
• Published: Bethesda, MD Oxford University Press 01.11.2003; Copyright by The Endocrine Society; Endocrine Society
• Subjects: Age; Biological and medical sciences; Codons; Endocrinopathies; Hyperplasia; Malignant tumors; Medical sciences; Mutation; Patients; Point mutation; Ret protein; Thyroid cancer; Thyroid carcinoma; Thyroid. Thyroid axis (diseases); Thyroidectomy; Tropical medicine; South America; Brazil; America; Endocrinopathy; Human; Family study; Germ line; Point mutation; Thyroid diseases; Medullary carcinoma; Candidate gene; Malignant tumor; Genetic determinism; Genetic disease

Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainly in cysteine codon 10 or 11, whereas noncysteine mutations in codons 13–15 are rare. We now report a new missense point mutation in exon 8 of the RET gene (1597G→T) corresponding to a Gly533Cys substitu...