PMID- 29848728
OWN - NLM
STAT- MEDLINE
DCOM- 20180611
LR  - 20180611
IS  - 1791-7530 (Electronic)
IS  - 0250-7005 (Linking)
VI  - 38
IP  - 6
DP  - 2018 Jun
TI  - Co-occurrence of MEN1 p.Gly111fs and AIP p.Arg16His Variants in Familial MEN1 
      Phenotype.
PG  - 3683-3687
LID - 10.21873/anticanres.12646 [doi]
AB  - BACKGROUND/AIM: Familial multiple endocrine neoplasia type 1 (MEN1) is a rare 
      disorder mostly associated with germline MEN1 mutations. MATERIALS AND METHODS: 
      Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl 
      hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was 
      carried out in a family with MEN1 and the resulting germline variants genotyped 
      in an additional 95 ethnically matched controls. RESULTS: A missense variant in 
      AIP (p.Arg16His) gene and a truncating mutation (p.Gly111fs*8) in MEN1 gene were 
      both detected in the proband and his father, showing limited co-segregation with 
      phenotype. p.Arg16His AIP missense variant was detected in one control. 
      CONCLUSION: There are conflicting data regarding the functional effects of AIP 
      p.Arg16His and its role in disease development. We demonstrated the co-occurrence 
      of p.Arg16His AIP missense variant in a patient with a bona fide MEN1 mutation. 
      Our finding of p.Arg16His AIP in one of the 95 controls and its co-occurrence 
      with MEN1 in a patient suggests that it is more likely that this variant is a 
      rare polymorphism, unrelated to MEN1 pathogenesis.
CI  - Copyright(c) 2018, International Institute of Anticancer Research (Dr. George J. 
      Delinasios), All rights reserved.
FAU - DE Melo, Flavia Marques
AU  - DE Melo FM
AD  - Department of Surgery, Federal University of Minas Gerais, Belo Horizonte, 
      Brazil.
FAU - Bastos-Rodrigues, Luciana
AU  - Bastos-Rodrigues L
AD  - Department of Nutrition, Federal University of Minas Gerais, Belo Horizonte, 
      Brazil.
FAU - Sarquis, Maria Marta
AU  - Sarquis MM
AD  - Department of Medicine, Federal University of Minas Gerais, Belo Horizonte, 
      Brazil.
FAU - Friedman, Eitan
AU  - Friedman E
AD  - The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, 
      Tel-Hashomer, and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, 
      Israel.
FAU - DE Marco, Luiz
AU  - DE Marco L
AD  - Department of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil 
      Ldemarco@ufmg.br.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Greece
TA  - Anticancer Res
JT  - Anticancer research
JID - 8102988
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (aryl hydrocarbon receptor-interacting protein)
SB  - IM
MH  - Adult
MH  - Family Health
MH  - Female
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins/*genetics
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/genetics/pathology
MH  - Pedigree
MH  - Phenotype
MH  - *Polymorphism, Single Nucleotide
MH  - Proto-Oncogene Proteins/*genetics
OTO - NOTNLM
OT  - AIP
OT  - CDKN1B
OT  - MEN1
OT  - Multiple endocrine neoplasia type I
EDAT- 2018/06/01 06:00
MHDA- 2018/06/12 06:00
CRDT- 2018/06/01 06:00
PHST- 2018/03/29 00:00 [received]
PHST- 2018/04/27 00:00 [revised]
PHST- 2018/05/03 00:00 [accepted]
PHST- 2018/06/01 06:00 [entrez]
PHST- 2018/06/01 06:00 [pubmed]
PHST- 2018/06/12 06:00 [medline]
AID - 38/6/3683 [pii]
AID - 10.21873/anticanres.12646 [doi]
PST - ppublish
SO  - Anticancer Res. 2018 Jun;38(6):3683-3687. doi: 10.21873/anticanres.12646.