Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome.
Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a familial multi-tumor syndrome resulting from mutations in the HRPT2 tumor suppressor gene, which encodes a protein product named parafibromin. We review current knowledge of the renal manifestations of the HPT-JT syndrome, and examine recent advances in understanding the biological function of parafibromin.
Tan
M H
MH
Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI 49503, USA.
Teh
B T
BT
D001859:Bone Neoplasms / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology*; D013577:Syndrome