Searchable abstracts of presentations at key conferences in endocrinology

ea0016p282 | Endocrine tumours | ECE2008

Screening of MEN1 gene in patients with either classic or variant MEN1 presentation

Cordella Daniela , De Marco Alessandro , Eller-Vainicher Cristina , Bastagli Anna , Jaffrain-Rea Marie Lise , Beck-Peccoz Paolo , Persani Luca

Multiple endocrine neoplasia type 1 (MEN1) is a rare dominantly inherited neoplastic syndrome. Tipically, it affects three major locations: parathyroid, endocrine pancreas or duodenum (GEP) and anterior pituitary. MEN1 is caused by mutations in MEN1 gene and its testing is now used as a complement to clinical diagnosis which may be hindered by the variable penetrance and expression of the defects. Mutation carriers are life-long monitored, while unaffected relatives can avoid ...