Endocrine Abstracts

Germline activating mutations of the RET proto-oncogene are associated with inherited medullary thyroid cancer (MTC) and can be also detected in about 10% of apparently sporadic MTC cases. In the present study, 4 novel RET mutations, located in the extracellular domain (A510V, E511K and C531R) and in the intracellular juxtamembrane region (L666N), all identified by the genetic screening on sporadic MTC cases, are firstly reported and functionally characterized. RET Plasmids ca...