Endocrine Abstracts

The MEN1 gene is located on chromosome 11q13; it spans 9 kb, has ten exons, and encodes a 610 amino acid protein named menin (isoform-2, NCBI Reference Sequence: NP_570711.1). Germline heterozygous inactivating mutations in this gene are observed in 70% of patients with the multiple endocrine neoplasia type 1 (MEN1) syndrome who develop multiple tumours in various endocrine (parathyroid, pancreas, and pituitary) and non-endocrine tissues with loss of the remaining nor...

Background: The presence of a genotype-phenotype correlation in patients with MEN1 remains controversial with conflicting data from different centers. Furthermore, about 10-30% patients have genotype-negative (GN)-MEN1. Here, we evaluate the presence of genotype-phenotype correlation in our cohort of comprehensively phenotyped patients with MEN1. In addition, we compare the phenotype of GN-MEN1 and genotype-positive (GP)-MEN1 patients and investigate somatic mosaicism as a cau...