PMID- 30780845
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 1744-8417 (Electronic)
IS  - 1744-6651 (Linking)
VI  - 7
IP  - 3
DP  - 2012 May
TI  - Recent results of basic and clinical research in MEN1: opportunities to improve 
      early detection and treatment.
PG  - 331-344
LID - 10.1586/eem.12.22 [doi]
AB  - Due to the variable expression of multiple endocrine neoplasia type 1 (MEN1), it 
      is difficult to predict the course of the disease. However, knowledge about the 
      normal function of the MEN1 gene product, together with the effects of cellular 
      derangement by subsequent genetic events, has increased considerably. At first, 
      the possible existence of a genotype-phenotype correlation is discussed. Thus, 
      mild- and late-onset phenotypes may be distinguished from more malignant 
      phenotypes depending on the character of the primary MEN1 disease gene mutation. 
      Subsequently, tumor-promoting factors such as gender, additional genetic 
      mutations and ecogenetic factors may contribute to the course of the disease. New 
      developments in management are based on the knowledge and experience of the 
      multidisciplinary teams involved. Finally, the metabolic effects of MEN1 
      mutations in aged patients are discussed. Early identification of predisposition 
      to the disease, together with knowledge about the natural history of specific 
      mutations, risks of additional mutations and periodic clinical monitoring, allow 
      early treatment and may improve life expectancy and quality of life.
FAU - Lips, Cornelis Jm
AU  - Lips CJ
AD  - a Department of Internal Medicine and Endocrinology, University Medical Center, 
      Utrecht & The Hague, The Netherlands.
AD  - d Department of Internal Medicine and Endocrinology, University Medical Center, 
      Utrecht & The Hague, The Netherlands. lips05@zonnet.nl.
FAU - Dreijerink, Koen Ma
AU  - Dreijerink KM
AD  - a Department of Internal Medicine and Endocrinology, University Medical Center, 
      Utrecht & The Hague, The Netherlands.
FAU - Links, Thera P
AU  - Links TP
AD  - b Department of Endocrinology, University Medical Center Groningen, The 
      Netherlands.
FAU - Hoppener, Jo Wm
AU  - Hoppener JW
AD  - c Department of Metabolic Diseases, University Medical Center, Utrecht, The 
      Netherlands.
LA  - eng
PT  - Journal Article
PL  - England
TA  - Expert Rev Endocrinol Metab
JT  - Expert review of endocrinology & metabolism
JID - 101278293
OTO - NOTNLM
OT  - DNA diagnosis
OT  - MEN1
OT  - genetic testing
OT  - genotype-phenotype correlation
OT  - menin
OT  - multiple endocrine neoplasia type 1
OT  - mutation analysis
OT  - periodic clinical monitoring
OT  - preimplantation genetic diagnosis
OT  - presymptomatic treatment
OT  - target-directed treatment
OT  - variable expression
EDAT- 2012/05/01 00:00
MHDA- 2012/05/01 00:01
CRDT- 2019/02/21 06:00
PHST- 2019/02/21 06:00 [entrez]
PHST- 2012/05/01 00:00 [pubmed]
PHST- 2012/05/01 00:01 [medline]
AID - 10.1586/eem.12.22 [doi]
PST - ppublish
SO  - Expert Rev Endocrinol Metab. 2012 May;7(3):331-344. doi: 10.1586/eem.12.22.