Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep606 | Endocrine tumours and neoplasia | ECE2016

Novel mutations p.V220E and c.30G>T in menin gene are associated with hereditary predisposition to multiple endocrine neoplasia type 1

Ziemnicka Katarzyna , Budny Bartlomiej , Gut Pawel , Hernik Aleksandra , Leitgeber-Dominiczak Olena , Siudzinski Marcin , Gryczynska Maria , Janicki Adam , Ruchala Marek

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant condition characterized by varying combinations of endocrine tumors and commonly accompanying hyperplasia within the parathyroid gland, anterior pituitary and gastrointestinal tract. Heterozygous germline mutation of the tumor suppressor gene MEN1 is the most common cause of the disease. Molecular genetic testing of menin gene, in which mutation is known to cause MEN1 syndrome, detects pathogenic...