A FIRST REPORT OF A GERMLINE FRAMESHIFT C.332DUP MUTATION IN MEN1 GENE IN A PATIENT WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 1

Abstract

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by the appearance of endocrine tumors, most commonly parathyroid adenomas, gastro-entero-pancreatic endocrine tumors, and pituitary tumors. It is caused by inactivating mutations in the MEN 1 tumor suppressor gene. More than 1,300 mutations in the MEN1 gene have been described, most of which are family specific. In this paper we report a patient with MEN 1 syndrome with a c.332dup mutation in the MEN1 gene in a heterozygous form. The identification of MEN1 mutations allows the application of a specific diagnostic approach to the detection of MEN 1 associated tumors and lesions, dictates the timing of surgical procedures, and allows specific genetic analyzes of relatives to be performed to identify presymptomatic carriers.