Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep585 | Endocrine-related Cancer | ECE2023

Phenotypic presentation of MEN1 (NM_130799.2):c.758delC (p.Ser253CysfsTer28) rs1592648765 pathogenic mutation of MEN-1 gene: a case report

Vergani Edoardo , Concolino Paola , Traini Emanuela , Macis Giuseppe , Mancini Antonio

Multiple endocrine neoplasia (MEN) 1 is a rare hereditary autosomal dominant tumor syndrome characterized by two or more endocrine tumors. Non-endocrine neoplasms have been described as well. MEN1 is caused by inactivating mutations of the onco-suppressor gene MEN-1 (chromosome 11q13) which encodes the protein menin. Currently, 897 public variants of MEN-1 gene are reported. We present the case of a recently discovered pathogenic mutations of MEN-1 gene. A 32-year-old Italian ...