Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep624 | Pituitary and Neuroendocrinology | ECE2020

Contribution of NGS in the genetic analysis of neuroendocrine tumors associated with Multiple Endocrine neoplasia type 1 (MEN 1)

Hamny Illias , Françoise Borson-Chazot , Sophie Giraud

Objective: Next Generation Sequencing technique (NGS) allows the analysis of a whole set of genes in the same time. It is, now, used, in our laboratory for the genetic screening of neuroendocrine tumors associated with Multiple Endocrine neoplasia type 1(MEN1)The objective of the present study was to assess the efficiency of this approach and the relevance of the results regarding the current genetic screening recommendations.Methods: The data of all pat...

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...