A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.

@article{Anselmo2012ALF,
  title={A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.},
  author={Jo{\~a}o Anselmo and Sandra Maria de Medeiros and Victor Carneiro and Elizabeth M. Greene and Isaac Levy and Maria Nesterova and Charalampos Lyssikatos and Anelia Horvath and J. Aidan Carney and Constantine A Stratakis},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2012},
  volume={97 2},
  pages={351-9}
}
CONTEXT Most tumors in Carney complex (CNC) are benign, including primary pigmented nodular adrenocortical disease (PPNAD), the main endocrine tumor in CNC. Adrenocortical cancer (AC) has never been observed in the syndrome. Herein, we describe a large Azorean family with CNC caused by a point mutation in the PRKAR1A gene coding for type 1-α (RIα) regulatory subunit of the cAMP-dependent protein kinase A, in which the index patient presented with AC. OBJECTIVE We studied the genotype… CONTINUE READING
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