PMID- 26767918
OWN - NLM
STAT- MEDLINE
DCOM- 20160623
LR  - 20220310
IS  - 2210-7762 (Print)
VI  - 209
IP  - 1-2
DP  - 2016 Jan-Feb
TI  - Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline 
      variants reported in the last nine years.
PG  - 36-41
LID - S2210-7762(15)00250-1 [pii]
LID - 10.1016/j.cancergen.2015.12.002 [doi]
AB  - This review will focus on the germline MEN1 mutations that have been reported in 
      patients with MEN1 and other hereditary endocrine disorders from 2007 to 
      September 2015. A comprehensive review regarding the analysis of 1336 MEN1 
      mutations reported in the first decade following the gene's identification was 
      performed by Lemos and Thakker in 2008. No other similar papers are available in 
      literature apart from these data. We also checked for the list of Locus-Specific 
      DataBases (LSDBs) and we found five MEN1 free-online mutational databases. 151 
      articles from the NCBI PubMed literature database were read and evaluated and a 
      total of 75 MEN1 variants were found. On the contrary, 67, 22 and 44 novel MEN1 
      variants were obtained from ClinVar, MEN1 at Cafe Variome and HGMD (The Human 
      Gene Mutation Database) databases respectively. A final careful analysis of MEN1 
      mutations affecting the coding region was performed.
CI  - Copyright (c) 2016 Elsevier Inc. All rights reserved.
FAU - Concolino, Paola
AU  - Concolino P
AD  - Laboratory of Molecular Biology, Institute of Biochemistry and Clinical 
      Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 
      Rome, Italy. Electronic address: paolaconcolino78@libero.it.
FAU - Costella, Alessandra
AU  - Costella A
AD  - Laboratory of Molecular Biology, Institute of Biochemistry and Clinical 
      Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 
      Rome, Italy.
FAU - Capoluongo, Ettore
AU  - Capoluongo E
AD  - Laboratory of Molecular Biology, Institute of Biochemistry and Clinical 
      Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 
      Rome, Italy.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20151214
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - Child, Preschool
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - Young Adult
OTO - NOTNLM
OT  - MEN1
OT  - cancer
OT  - molecular diagnosis
OT  - mutations
OT  - variants
EDAT- 2016/01/16 06:00
MHDA- 2016/06/24 06:00
CRDT- 2016/01/16 06:00
PHST- 2015/01/19 00:00 [received]
PHST- 2015/11/30 00:00 [revised]
PHST- 2015/12/03 00:00 [accepted]
PHST- 2016/01/16 06:00 [entrez]
PHST- 2016/01/16 06:00 [pubmed]
PHST- 2016/06/24 06:00 [medline]
AID - S2210-7762(15)00250-1 [pii]
AID - 10.1016/j.cancergen.2015.12.002 [doi]
PST - ppublish
SO  - Cancer Genet. 2016 Jan-Feb;209(1-2):36-41. doi: 10.1016/j.cancergen.2015.12.002. 
      Epub 2015 Dec 14.