PMID- 30820182
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220408
IS  - 1452-8258 (Print)
IS  - 1452-8266 (Electronic)
IS  - 1452-8266 (Linking)
VI  - 38
IP  - 1
DP  - 2019 Mar
TI  - Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.
PG  - 38-44
LID - 10.2478/jomb-2018-0013 [doi]
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      cancer syndrome characterized by the occurrence of primary hyperparathyroidism 
      (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumor (pNET). 
      Whether the underlying mutations in MEN1 gene predict clinical presentation of 
      affected heterozygotes or not, is still a matter of a debate. METHODS: Clinical 
      and genetic analysis of 90 consecutive MEN1 patients was performed in a 
      retrospective, single - center study. RESULTS: MEN1 mutation was found in 67 
      (74.4%) patients belonging to 31 different families. Twenty nine different 
      heteozygous mutations were found, including 6 novel point mutations (W220G, 
      941delG, 1088del7, 1184insA, 1473del10, 1602del17) and one large deletion of exon 
      8. Truncating mutations predicted development of pNETs (OR=5.8, 95% CI 1.7 - 
      19.7%) and PHPT (OR=4.3, 95% CI 1.5 - 12.4%). CONCLUSIONS: Large number of novel 
      mutations among MEN1 patients confirmed previously reported data. PNETs and PHPT 
      were more frequent in patients with truncating mutations.
FAU - Isailovic, Tatjana
AU  - Isailovic T
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
FAU - Milicevic, Ivana
AU  - Milicevic I
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, Belgrade, Serbia.
FAU - Macut, Djuro
AU  - Macut D
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
FAU - Petakov, Milan
AU  - Petakov M
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
FAU - Ognjanovic, Sanja
AU  - Ognjanovic S
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
FAU - Popovic, Bojana
AU  - Popovic B
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
FAU - Antic, Ivana Bozic
AU  - Antic IB
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
FAU - Bogavac, Tamara
AU  - Bogavac T
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, Belgrade, Serbia.
FAU - Kovacevic, Valentina Elezovic
AU  - Kovacevic VE
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, Belgrade, Serbia.
FAU - Ilic, Dusan
AU  - Ilic D
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, Belgrade, Serbia.
FAU - Damjanovic, Svetozar
AU  - Damjanovic S
AD  - Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of 
      Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
LA  - eng
PT  - Journal Article
DEP - 20190301
PL  - Serbia
TA  - J Med Biochem
JT  - Journal of medical biochemistry
JID - 101315490
PMC - PMC6298455
OTO - NOTNLM
OT  - MEN1
OT  - genotype
OT  - novel mutations
OT  - phenotype
COIS- Conflict of interest statement The author stated that she has no conflicts of 
      interest regarding the publication of this article.
EDAT- 2019/03/02 06:00
MHDA- 2019/03/02 06:01
PMCR- 2019/03/01
CRDT- 2019/03/02 06:00
PHST- 2018/03/16 00:00 [received]
PHST- 2018/03/24 00:00 [accepted]
PHST- 2019/03/02 06:00 [entrez]
PHST- 2019/03/02 06:00 [pubmed]
PHST- 2019/03/02 06:01 [medline]
PHST- 2019/03/01 00:00 [pmc-release]
AID - jomb-2018-0013 [pii]
AID - 10.2478/jomb-2018-0013 [doi]
PST - epublish
SO  - J Med Biochem. 2019 Mar 1;38(1):38-44. doi: 10.2478/jomb-2018-0013. eCollection 
      2019 Mar.