Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.

@article{Muzza2010FourNR,
  title={Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.},
  author={Marina Muzza and Daniela Cordella and Johny Bombled and Brigitte Bressac-de Paillerets and Fabiana Guizzardi and Zelia M Francis and Paolo Beck-Peccoz and Martin Schlumberger and Luca Persani and Laura Fugazzola},
  journal={European journal of endocrinology},
  year={2010},
  volume={162 4},
  pages={771-7}
}
CONTEXT Most germline-activating mutations of the RET proto-oncogene associated with inherited medullary thyroid cancer (MTC) are localized in exons 10, 11 and 13-15. Four novel RET variants, located in the extracellular domain (p.A510V, p.E511K and p.C531R) coded by exon 8 and in the intracellular juxtamembrane region (p.K666N) coded by exon 11, were identified on the leukocyte DNA from apparently sporadic cases. METHODS Plasmids carrying Ret9-wild-type (Ret9-WT), Ret9-C634R and all Ret9… CONTINUE READING
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