Published online May 20, 2015. doi: 10.5493/wjem.v5.i2.124
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: 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.