Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp152 | Interdisciplinary Endocrinology 1 | ECE2019

UMD-MEN1 database: analysis of clinical and genetic data from 1,676 patients by the TENGEN network

Romanet Pauline , Giraud Sophie , Odou Marie-francoise , North Marie-Odile , Mohamed Amira , Coppin Lucie , Calender Alain , Borson-Chazot Francoise , Beroud Christophe , Goudet Pierre , Barlier Anne

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene. MEN1 is characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. MEN1 presents a broad spectrum of variants, including large deletions, and truncating, missense, or splicing point mutations. The genotype-phenotype relationship r...