Genetics of Hyperparathyroidism, Including Parathyroid Cancer

Primary hyperparathyroidism (HPT) is a metabolic disease caused by the excessive secretion of parathyroid hormone from one or more neoplastic parathyroid glands. HPT is largely sporadic, however it can be associated with a familial syndrome. The study of such families led to the discovery of tumor suppressor genes whose loss–of-function is now recognized to underlie the development of many sporadic parathyroid tumors. Heritable and acquired oncogenes causing parathyroid neoplasia are also known. Studies of somatic changes in parathyroid tumor DNA and investigation of kindreds with unexplained familial HPT promise to unmask more genes relevant to parathyroid neoplasia.