Endocrine Abstracts

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...

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...