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A Novel MEN1 Gene Variant in a Sporadic Case of Multiple Endocrine Neoplasia Type 1


Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of hyperparathyroidism, pituitary adenomas and duodeno-pancreatic neuroendocrine tumours (NETs). Germline mutations of the MEN1 gene are identified in up to 87% of MEN1 families and 82% of isolated MEN1 cases.

Aim(s): To report a novel variant of the MEN1 gene.

Materials and methods: We describe a typical sporadic MEN1 patient. Mutational analysis of the MEN1 gene (exons 2-10) has been performed by Sanger sequencing.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author: Iacovazzo D

Authors: Iacovazzo D, Piacentini S, Lugli F, Bianchi A, Gabrovska P,

Keywords: MEN1, mutation, gastric carcinoid,

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