NEJM - Somatic and Germ-Line Mutations of the HRPT2 Gene in Sporadic Parathyroid Carcinoma: " Because mutations in the parafibromin gene (HRPT2) occur in a familial syndrome characterized by susceptibility to parathyroid carcinoma, such mutations were sought and found in patients with sporadic cases of parathyroid carcinoma. Moreover, germ-line mutations of HRPT2 were found in some patients with apparently sporadic parathyroid carcinoma. Mutations in HRPT2 probably have a causative role in parathyroid carcinoma. The finding of germ-line mutations of the gene in apparently sporadic cases points to a variant of the familial syndrome with low penetrance and raises questions about the value of genetic testing in carriers of the mutant gene."

Syndromaniacs take note. "hyperparathyroidism–jaw tumor (HPT-JT) syndrome" ;) - KK