Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep864 | Thyroid | ECE2020

Multiple endocrine neoplasia Type 1 (Men1) – genetic variants of Men1 gene in the czech population

Lukasova Petra , kuklik Miloslav , Vankova Marketa , Vondrkova Nela , Vejrazkova Daniela , Moravcova Jitka , Vcelak Josef , Bendlova Bela

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary tumor syndrome. Common manifestations include more than 20 tumors of the parathyroid, pituitary and pancreatic glands and others non-endocrine tumors. The majority of patients carry a germline mutation in a tumor-suppressor gene MEN1, that encodes nuclear protein menin, ubiquitously expressed. So fare, more than 600 germline or somatic mutations have been reported over the...