Searchable abstracts of presentations at key conferences in endocrinology

ea0050p249 | Neoplasia, Cancer and Late Effects | SFEBES2017

Multiple endocrine neoplasia type 1 (MEN1) phenocopy due to a P.Leu380Phe cell division cycle 23 (CDC73) mutation

Lines Kate E , Nachtigall Lisa B , Dichtel Laura E , Cranston Treena , Khairi Shafaq , Boon Hannah , Sagvand Babak Torabi , Zhang Xun , Stevenson Mark , Klibanski Anne , Thakker Rajesh V

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pituitary and pancreas. MEN1 is caused by mutations of the tumour suppressor gene MEN1, and MEN1 germline mutations are found in >75% of MEN1 patients. The remaining 25% of patients may have mutations involving as yet unidentified gene...

ea0050p249 | Neoplasia, Cancer and Late Effects | SFEBES2017

Multiple endocrine neoplasia type 1 (MEN1) phenocopy due to a P.Leu380Phe cell division cycle 23 (CDC73) mutation

Lines Kate E , Nachtigall Lisa B , Dichtel Laura E , Cranston Treena , Khairi Shafaq , Boon Hannah , Sagvand Babak Torabi , Zhang Xun , Stevenson Mark , Klibanski Anne , Thakker Rajesh V

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pituitary and pancreas. MEN1 is caused by mutations of the tumour suppressor gene MEN1, and MEN1 germline mutations are found in >75% of MEN1 patients. The remaining 25% of patients may have mutations involving as yet unidentified gene...