PMID- 28899949
OWN - NLM
STAT- MEDLINE
DCOM- 20180508
LR  - 20230131
IS  - 1479-6821 (Electronic)
IS  - 1351-0088 (Print)
IS  - 1351-0088 (Linking)
VI  - 24
IP  - 10
DP  - 2017 Oct
TI  - The future: genetics advances in MEN1 therapeutic approaches and management 
      strategies.
PG  - T119-T134
LID - 10.1530/ERC-17-0199 [doi]
AB  - The identification of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997 
      has shown that germline heterozygous mutations in the MEN1 gene located on 
      chromosome 11q13 predisposes to the development of tumors in the MEN1 syndrome. 
      Tumor development occurs upon loss of the remaining normal copy of the MEN1 gene 
      in MEN1-target tissues. Therefore, MEN1 is a classic tumor suppressor gene in the 
      context of MEN1. This tumor suppressor role of the protein encoded by the MEN1 
      gene, menin, holds true in mouse models with germline heterozygous Men1 loss, 
      wherein MEN1-associated tumors develop in adult mice after spontaneous loss of 
      the remaining non-targeted copy of the Men1 gene. The availability of genetic 
      testing for mutations in the MEN1 gene has become an essential part of the 
      diagnosis and management of MEN1. Genetic testing is also helping to exclude 
      mutation-negative cases in MEN1 families from the burden of lifelong clinical 
      screening. In the past 20 years, efforts of various groups world-wide have been 
      directed at mutation analysis, molecular genetic studies, mouse models, gene 
      expression studies, epigenetic regulation analysis, biochemical studies and 
      anti-tumor effects of candidate therapies in mouse models. This review will focus 
      on the findings and advances from these studies to identify MEN1 germline and 
      somatic mutations, the genetics of MEN1-related states, several protein partners 
      of menin, the three-dimensional structure of menin and menin-dependent target 
      genes. The ongoing impact of all these studies on disease prediction, management 
      and outcomes will continue in the years to come.
CI  - (c) 2017 Society for Endocrinology.
FAU - Agarwal, Sunita K
AU  - Agarwal SK
AD  - Metabolic Diseases BranchNational Institute of Diabetes and Digestive and Kidney 
      Diseases, NIH, Bethesda, Maryland, USA SunitaA@mail.nih.gov.
LA  - eng
GR  - Z99 DK999999/Intramural NIH HHS/United States
GR  - ZIA DK043006-40/Intramural NIH HHS/United States
GR  - ZIA DK075035-01/Intramural NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Intramural
PT  - Review
PL  - England
TA  - Endocr Relat Cancer
JT  - Endocrine-related cancer
JID - 9436481
SB  - IM
CIN - Hormones (Athens). 2022 Dec;21(4):743-745. PMID: 35297010
MH  - Genetic Testing/*methods
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/pathology/*surgery/*therapy
MH  - Neuroendocrine Tumors/*genetics/metabolism
PMC - PMC5679100
MID - NIHMS899047
OTO - NOTNLM
OT  - multiple endocrine neoplasia
OT  - neuroendocrine
OT  - parathyroid
OT  - pituitary
COIS- Declaration of interest The author declares that there is no conflict of interest 
      that could be perceived as prejudicing the impartiality of this review.
EDAT- 2017/09/14 06:00
MHDA- 2018/05/09 06:00
PMCR- 2018/10/01
CRDT- 2017/09/14 06:00
PHST- 2017/07/21 00:00 [received]
PHST- 2017/08/08 00:00 [accepted]
PHST- 2017/09/14 06:00 [entrez]
PHST- 2017/09/14 06:00 [pubmed]
PHST- 2018/05/09 06:00 [medline]
PHST- 2018/10/01 00:00 [pmc-release]
AID - 24/10/T119 [pii]
AID - 10.1530/ERC-17-0199 [doi]
PST - ppublish
SO  - Endocr Relat Cancer. 2017 Oct;24(10):T119-T134. doi: 10.1530/ERC-17-0199.