ea0035p515 | Endocrine tumours and neoplasia | ECE2014
Oriola Josep
, Sitges Antoni
, Goday Albert
, Martinez S
, Villabona Carles
, Gomez Jose Manuel
, Loidi Lourdes
, Salinas Isabel
, Puig-Domingo Manel
, Gonzalez-Romero E
, Garcia-Arnes J A
, Lecube Albert
, Mesa Jordi
, Simo Rafael
, Rosell J
, Sanchez-Garcia F
, Recas Immaculada
, Biarnes Josefina
, Pizarro Eduarda
, Halperin Irene
Introduction: The autosomal dominant multiple endocrine neoplasia type 1 (MEN1), characterized by parathyroid hyperplasia (PH), neuroendocrine digestive tumours (NET) and pituitary adenomas (PA), is due to mutations in the tumor suppressor gene MEN1 encoding a 610-amino acid protein, menin. Guidelines recommend MEN1 mutational analysis in index cases with two or more MEN1-associated tumours, in first-degree relatives of mutation carriers and when clinical dat...