V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers.

@article{Lecube2002V804MRM,
  title={V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers.},
  author={Albert Lecube and Cristina Hern{\'a}ndez and Josep Oriola and Rosa Galard and Enrique G{\'e}mar and Jorge Luis Maestre Mesa and Rafael Sim{\'o}},
  journal={Surgery},
  year={2002},
  volume={131 5},
  pages={509-14}
}
BACKGROUND Only 9 families with familial medullary thyroid carcinoma due to V804M mutation have been reported until now. We describe a large kindred with not only heterozygous but also homozygous members with the V804M mutation. This is, to our knowledge, the first report of a homozygous RET mutation. METHODS Fifty-three members from 4 successive generations of a family with a high level of consanguinity underwent genetic analysis. The pentagastrin provocative test and biochemical screening… CONTINUE READING
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