A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma.

@article{Silva2003ANG,
  title={A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma.},
  author={Adriana Madeira Alvares da Silva and Rui Monteiro de Barros Maciel and Magnus R Dias Da Silva and Silvia Regina Caminada Toledo and Marcos Brasilino de Carvalho and Janete M Cerutti},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2003},
  volume={88 11},
  pages={5438-43}
}
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 Gly(533)Cys substitution in the cysteine-rich domain of RET protein in 76 patients from a 6-generation Brazilian family with 229 subjects, with ascendants from Spain. It is likely that the mutation causes familial… CONTINUE READING