Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Exp Med. May 20, 2015; 5(2): 124-129
Published online May 20, 2015. doi: 10.5493/wjem.v5.i2.124
Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story
Francesca Marini, Francesca Giusti, Maria Luisa Brandi
Francesca Marini, Francesca Giusti, Maria Luisa Brandi, Department of Surgery and Translational Medicine, University of Florence, 50134 Florence, Italy
Author contributions: Marini F contributed to substantial contributions to data acquisition and drafting the manuscript; Giusti F contributed to revising manuscript critically for important clinical content; Brandi ML contributed to revising manuscript and final approval of the version to be published.
Conflict-of-interest: All the Authors declare not to have any conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Maria Luisa Brandi, MD, PhD, Professor of Endocrinology, Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50134 Florence, Italy.
Telephone: +39-055-7946304 Fax: +39-055-7946303
Received: September 29, 2014
Peer-review started: October 2, 2014
First decision: October 28, 2014
Revised: November 12, 2014
Accepted: February 4, 2015
Article in press: February 9, 2015
Published online: May 20, 2015
Core Tip

Core tip: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumour syndrome. Mutation analysis of the causative gene, the oncosuppressor MEN1 gene, is today the best approach for the early and differential diagnosis of the disease. The manuscript gives an overview on current genetic testing of MEN1 syndrome, reporting the positive aspects and clinical utility of performing the analysis. Moreover, the paper aims to report the future perspectives for improving the performance of the test and its application in clinical practice.