PMID- 25509899
OWN - NLM
STAT- MEDLINE
DCOM- 20150102
LR  - 20141215
IS  - 0040-3660 (Print)
IS  - 0040-3660 (Linking)
VI  - 86
IP  - 10
DP  - 2014
TI  - [Multiple endocrine neoplasia type 1 variants and phenocopies].
PG  - 87-91
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant 
      hereditary disease due to a mutation in the MENI tumor suppressor gene. The risk 
      of the disease in first-degree relatives of MEN1 mutation carriers is 50%. MENI 
      gene mutations are not identified in 10-30% of familiar MEN1 patients and in 
      60-80% of sporadic MEN1 cases, which can be explained by mutations in the 
      noncoding regions of the MEN1 gene, large gene deletions or mutations in other 
      yet unknown genes. Molecular genetic testing can exclude the diagnosis of MEN1 in 
      patients who do not harbor the MEN1 mutation, thus revealing a MEN1 phenocopy. 
      This obviates the need for annual screening for the early detection of other 
      remaining components of the disease and its risk in progeny.
FAU - Mamedova, E O
AU  - Mamedova EO
FAU - Mokrysheva, N G
AU  - Mokrysheva NG
FAU - Przhiialkovskaia, E G
AU  - Przhiialkovskaia EG
FAU - Pigarova, E A
AU  - Pigarova EA
FAU - Rozhinskaia, L Ia
AU  - Rozhinskaia LIa
FAU - Tiul'pakov, A N
AU  - Tiul'pakov AN
LA  - rus
PT  - English Abstract
PT  - Journal Article
PT  - Review
PL  - Russia (Federation)
TA  - Ter Arkh
JT  - Terapevticheskii arkhiv
JID - 2984818R
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Phenotype
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2014/12/17 06:00
MHDA- 2015/01/03 06:00
CRDT- 2014/12/17 06:00
PHST- 2014/12/17 06:00 [entrez]
PHST- 2014/12/17 06:00 [pubmed]
PHST- 2015/01/03 06:00 [medline]
PST - ppublish
SO  - Ter Arkh. 2014;86(10):87-91.