Germline variants in the CDC73 gene, including the truncating variant detected in our patient, are known to cause hyperparathyroid-jaw tumor syndrome (HPT-JT), which has variable penetrance for parathyroid carcinomas, ossifying fibromas of the jaw, and uterine lesions (adenofibromas and rarely adenosarcomas) [42]. Here, CDC73 is linked to parathyroid gland carcinoma.