Searchable abstracts of presentations at key conferences in endocrinology

ea0031oc5.7 | Pituitary and neoplasia | SFEBES2013

Uterine tumours with loss of progesterone receptor expression develop in mice deleted for a cell division cycle 73 allele

Walls Gerard , Manek Sanjiv , Thakker Rajesh

Mutations of the cell division cycle 73 (CDC73) gene, which encodes the 531 amino acid protein parafibromin, are associated with the Hyperparathyroidism-Jaw Tumour (HPT-JT) syndrome, an autosomal dominant disorder characterised by parathyroid tumours and ossifying jaw fibromas. In addition, ∼75% of women with HPT-JT develop benign and malignant uterine tumours, which include endometrial hyperplasia, adenosarcomas, adenofibromas, and leiomyomas. To explore the role of <em...