A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A.

@article{Bethanis2007AND,
  title={A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A.},
  author={Sotirios K. Bethanis and George Koutsodontis and Theodosia Palouka and Christos Avgoustis and Drakoulis Yannoukakos and Thalia A Bei and Savas Papadopoulos and Dimitrios A. Linos and Stylianos Tsagarakis},
  journal={Hormones},
  year={2007},
  volume={6 2},
  pages={152-6}
}
Multiple endocrine neoplasia type 2A (MEN2A) is a syndrome of familial neoplasias characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperplasia of the parathyroid glands. RET protooncogene mutations are responsible for MEN 2A. Mutations in exons 10 or 11 have been identified in more than 96% of patients with MEN 2A. We herein report for the first time a patient with MEN 2A harboring a mutation (Gly(533)Cys) in exon 8. A 66-year old male patient was referred to our… CONTINUE READING

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