PMID- 20833329
OWN - NLM
STAT- MEDLINE
DCOM- 20110110
LR  - 20211020
IS  - 1878-1594 (Electronic)
IS  - 1521-690X (Linking)
VI  - 24
IP  - 3
DP  - 2010 Jun
TI  - Multiple endocrine neoplasia type 1 (MEN1).
PG  - 355-70
LID - 10.1016/j.beem.2010.07.003 [doi]
AB  - Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal-dominant disorder 
      characterised by the occurrence of tumours of the parathyroids, pancreas and 
      anterior pituitary. The MEN1 gene, consists of 10 exons that encode a 610-amino 
      acid protein referred to as Menin. Menin is predominantly a nuclear protein that 
      has roles in transcriptional regulation, genome stability, cell division and 
      proliferation. Germ-line mutations usually result in MEN1 or occasionally in an 
      allelic variant referred to as Familial Isolated Hyperparathyroidism (FIHP). MEN1 
      tumours frequently have loss of heterozygosity (LOH) of the MEN1 locus, which is 
      consistent with a tumour suppressor role of MEN1. Furthermore, somatic 
      abnormalities of MEN1 have been reported in MEN1 and non-MEN1 endocrine tumours. 
      To date, over 1300 mutations have been reported, and the majority (>70%) of these 
      are predicted to lead to truncated forms of Menin. The mutations are scattered 
      throughout the >9 kb genomic sequence of the MEN1 gene. Four, which consist of 
      c.249_252delGTCT (deletion at codons 83-84), c.1546_1547insC (insertion at codon 
      516), c.1378C>T (Arg460Ter) and c.628_631delACAG (deletion at codons 210-211) 
      have been reported to occur frequently in 4.5%, 2.7%, 2.6% and 2.5% of families, 
      respectively. However, a comparison of the clinical features in patients and 
      their families with the same mutations reveals an absence of phenotype-genotype 
      correlations. The majority of MEN1 mutations are likely to disrupt the 
      interactions of Menin with other proteins and thereby alter critical events in 
      cell cycle regulation and proliferation.
CI  - Copyright 2010 Elsevier Ltd. All rights reserved.
FAU - Thakker, Rajesh V
AU  - Thakker RV
AD  - Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of 
      Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), 
      Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom. 
      rajesh.thakker@ndm.ox.ac.uk
LA  - eng
GR  - G9825289/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Netherlands
TA  - Best Pract Res Clin Endocrinol Metab
JT  - Best practice & research. Clinical endocrinology & metabolism
JID - 101120682
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adenoma, Islet Cell
MH  - Animals
MH  - Disease Models, Animal
MH  - Germ-Line Mutation
MH  - Humans
MH  - Mice
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology
MH  - Neuroendocrine Tumors/genetics/pathology
MH  - Parathyroid Neoplasms/*genetics/pathology
MH  - Pituitary Neoplasms/*genetics/pathology
MH  - Proto-Oncogene Proteins/genetics
EDAT- 2010/09/14 06:00
MHDA- 2011/01/11 06:00
CRDT- 2010/09/14 06:00
PHST- 2010/09/14 06:00 [entrez]
PHST- 2010/09/14 06:00 [pubmed]
PHST- 2011/01/11 06:00 [medline]
AID - S1521-690X(10)00070-9 [pii]
AID - 10.1016/j.beem.2010.07.003 [doi]
PST - ppublish
SO  - Best Pract Res Clin Endocrinol Metab. 2010 Jun;24(3):355-70. doi: 
      10.1016/j.beem.2010.07.003.