PMID- 25992327
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150520
LR  - 20200930
IS  - 2220-315X (Print)
IS  - 2220-315X (Electronic)
IS  - 2220-315X (Linking)
VI  - 5
IP  - 2
DP  - 2015 May 20
TI  - Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story.
PG  - 124-9
LID - 10.5493/wjem.v5.i2.124 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited 
      tumour syndrome expressing various endocrine and non-endocrine lesions and 
      tumours. Since the identification of the causative gene, the oncosuppressor gene 
      MEN1, in 1997, genetic testing has revealed an important approach for the early 
      and differential diagnosis of the disease. The finding of a MEN1 mutation in a 
      patient has important clinical implications for relatives since it allows very 
      early disease diagnosis and identification of carriers, even before biochemical 
      and/or clinical manifestation, permitting their inclusion in a specific program 
      of surveillance and subsequent praecox therapy. Currently, genetic testing for 
      MEN1 consists principally of the sequencing of coding regions and intron-exon 
      junctions of the MEN1 gene. However, the recent acquisition of novel high 
      throughput technologies will allow the design of innovative, accurate, complete 
      and rapid genetic diagnosis. These new tools are able to increase the strength of 
      the analysis and almost completely eliminate the possibility of false negative 
      results. This review aims to give an overview on genetic testing of MEN1 
      syndrome, reporting the positive aspects of performing the analysis and the 
      future perspectives for improving the performance of the test, as well as its 
      application in clinical practice.
FAU - Marini, Francesca
AU  - Marini F
AD  - Francesca Marini, Francesca Giusti, Maria Luisa Brandi, Department of Surgery and 
      Translational Medicine, University of Florence, 50134 Florence, Italy.
FAU - Giusti, Francesca
AU  - Giusti F
AD  - Francesca Marini, Francesca Giusti, Maria Luisa Brandi, Department of Surgery and 
      Translational Medicine, University of Florence, 50134 Florence, Italy.
FAU - Brandi, Maria Luisa
AU  - Brandi ML
AD  - Francesca Marini, Francesca Giusti, Maria Luisa Brandi, Department of Surgery and 
      Translational Medicine, University of Florence, 50134 Florence, Italy.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20150520
PL  - United States
TA  - World J Exp Med
JT  - World journal of experimental medicine
JID - 101618808
PMC - PMC4436936
OTO - NOTNLM
OT  - Clinical practice
OT  - Genetic test
OT  - Multiple endocrine neoplasia type 1
OT  - Next-generation sequencing
EDAT- 2015/05/21 06:00
MHDA- 2015/05/21 06:01
PMCR- 2015/05/20
CRDT- 2015/05/21 06:00
PHST- 2014/09/29 00:00 [received]
PHST- 2014/11/12 00:00 [revised]
PHST- 2015/02/04 00:00 [accepted]
PHST- 2015/05/21 06:00 [entrez]
PHST- 2015/05/21 06:00 [pubmed]
PHST- 2015/05/21 06:01 [medline]
PHST- 2015/05/20 00:00 [pmc-release]
AID - 10.5493/wjem.v5.i2.124 [doi]
PST - epublish
SO  - World J Exp Med. 2015 May 20;5(2):124-9. doi: 10.5493/wjem.v5.i2.124. eCollection 
      2015 May 20.