Article
CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors.
Endocrine-related cancer - 1 Mar 2010
Hahn Michael A, Howell Viive M, Gill Anthony J, Clarkson Adele, Weaire-Buchanan Graham, Robinson Bruce G, Delbridge Leigh, Gimm Oliver, Schmitt Wolfgang D, Teh Bin T, Marsh Deborah J
Abstract excerpt
The tumor suppressor HRPT2/CDC73 is mutated in constitutive DNA from patients with the familial disorder hyperparathyroidism-jaw tumor syndrome and in approximately 70% of all parathyroid carcinomas. In a number of HRPT2 mutant tumors however, expression of the encoded protein parafibromin is lost in the absence of a clear second event such as HRPT2 allelic loss or the presence of a second mutation in this tumor...
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