Article
A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome.
Cellular oncology (Dordrecht, Netherlands) - 1 Aug 2014
Chiofalo M G, Sparaneo A, Chetta M, Franco R, Baorda F, Cinque L, Granatiero M, D'Agruma L, Pezzullo L, Scillitani A, Guarnieri V
Abstract excerpt
PURPOSE: The CDC73 gene, encoding parafibromin, has been identified as a tumour suppressor gene both in hyperparathyroidism-jaw tumour (HPT-JT) syndrome and in sporadic parathyroid carcinoma. While the vast majority of CDC73 mutations affect the N-terminus or the central core of the encoded protein, as yet few mutations have been reported affecting the C-terminus. Here, we report a case (Caucasian female, 28...
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