A Pilot Study of and Gene Variants in Primary Hyperparathyroidism.

Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by the overactivity of the parathyroid glands. While a few genes have been linked to a predisposition for PHPT, the genetic foundation of the disease remains unclear, despite it being the third most prevalent endocrine disorder. This pilot study aimed to investigate, for the first time, the potential association between specific variants in Annexin A2 (-rs7170178, rs17191344, rs11633032), Mediator Complex Subunit 12 (-rs1057519912), Calmodulin 1 (-rs12885713), and Mitogen-Activated Protein Kinase 1 (-rs1057519911) genes with PHPT.

Inactivation of the Tumor Suppressor CYLD Sensitizes Mice to Breast Cancer Development.

Background/aim: Breast cancer is a leading cause of cancer-related deaths among women. Down-regulation of the tumor suppressor gene Cyld in breast cancer has been linked to a poor prognosis. This study investigated the role of Cyld in breast cancer using conditional mutant mouse models carrying a Cyld mutation, which inactivates the deubiquitinating activity of its protein product CYLD in mammary epithelial cells.