PMID- 25824098
OWN - NLM
STAT- MEDLINE
DCOM- 20160330
LR  - 20181113
IS  - 1582-4934 (Electronic)
IS  - 1582-1838 (Print)
IS  - 1582-1838 (Linking)
VI  - 19
IP  - 7
DP  - 2015 Jul
TI  - Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia 
      type 1.
PG  - 1735-41
LID - 10.1111/jcmm.12552 [doi]
AB  - CDKN1B encodes the cyclin-dependent kinase inhibitor p27/Kip1. CDKN1B mutations 
      and polymorphisms are involved in tumorigenesis; specifically, the V109G single 
      nucleotide polymorphism has been linked to different tumours with controversial 
      results. Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant 
      syndrome, characterized by the development of different types of neuroendocrine 
      tumours and increased incidence of other malignancies. A clear genotype-phenotype 
      correlation in MEN1 has not been established yet. In this study, we assessed 
      whether the CDKN1B V109G polymorphism was associated with the development of 
      aggressive tumours in 55 consecutive patients affected by MEN1. The polymorphism 
      was investigated by PCR amplification of germline DNA followed by direct 
      sequencing. Baseline and follow-up data of tumour types and their severity were 
      collected and associated with the genetic data. MEN1-related aggressive and other 
      malignant tumours of any origin were detected in 16.1% of wild-type and 33.3% of 
      polymorphism allele-bearing patients (P = NS). The time interval between birth 
      and the first aggressive tumour was significantly shorter in patients with the 
      CDKN1B V109G polymorphism (median 46 years) than in those without (median not 
      reached; P = 0.03). Similarly, shorter was the time interval between MEN1 
      diagnosis and age of the first aggressive tumour (P = 0.02). Overall survival 
      could not be estimated as 96% patients were still alive at the time of the study. 
      In conclusion, CDKN1B V109G polymorphism seems to play a role in the development 
      of aggressive tumours in MEN1.
CI  - (c) 2015 The Authors. Journal of Cellular and Molecular Medicine published by John 
      Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.
FAU - Circelli, Luisa
AU  - Circelli L
AD  - Oncological Immunology, Department of Abdominal Oncology, National Cancer 
      Institute, "Fondazione G. Pascale", Naples, Italy.
AD  - CEINGE Advanced Biotechnologies, Naples, Italy.
FAU - Ramundo, Valeria
AU  - Ramundo V
AD  - Department of Clinical Medicine and Surgery, "Federico II" University of Naples, 
      Naples, Italy.
FAU - Marotta, Vincenzo
AU  - Marotta V
AD  - Department of Clinical Medicine and Surgery, "Federico II" University of Naples, 
      Naples, Italy.
FAU - Sciammarella, Concetta
AU  - Sciammarella C
AD  - Department of Clinical Medicine and Surgery, "Federico II" University of Naples, 
      Naples, Italy.
FAU - Marciello, Francesca
AU  - Marciello F
AD  - Department of Clinical Medicine and Surgery, "Federico II" University of Naples, 
      Naples, Italy.
FAU - Del Prete, Michela
AU  - Del Prete M
AD  - Department of Clinical Medicine and Surgery, "Federico II" University of Naples, 
      Naples, Italy.
FAU - Sabatino, Lina
AU  - Sabatino L
AD  - Department of Sciences and Technologies, University of Sannio, Benevento, Italy.
FAU - Pasquali, Daniela
AU  - Pasquali D
AD  - Department of Cardiothoracic and Respiratory Sciences, Endocrinology Unit, Second 
      University of Naples, Naples, Italy.
FAU - Izzo, Francesco
AU  - Izzo F
AD  - Oncological Immunology, Department of Abdominal Oncology, National Cancer 
      Institute, "Fondazione G. Pascale", Naples, Italy.
FAU - Scala, Stefania
AU  - Scala S
AD  - Oncological Immunology, Department of Abdominal Oncology, National Cancer 
      Institute, "Fondazione G. Pascale", Naples, Italy.
FAU - Colao, Annamaria
AU  - Colao A
AD  - Department of Clinical Medicine and Surgery, "Federico II" University of Naples, 
      Naples, Italy.
FAU - Faggiano, Antongiulio
AU  - Faggiano A
AD  - Department of Clinical Medicine and Surgery, "Federico II" University of Naples, 
      Naples, Italy.
FAU - Colantuoni, Vittorio
AU  - Colantuoni V
AD  - CEINGE Advanced Biotechnologies, Naples, Italy.
AD  - Department of Sciences and Technologies, University of Sannio, Benevento, Italy.
CN  - Multidisciplinary Group for NeuroEndocrine Tumours of Naples
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150330
PL  - England
TA  - J Cell Mol Med
JT  - Journal of cellular and molecular medicine
JID - 101083777
RN  - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Base Sequence
MH  - Case-Control Studies
MH  - Child
MH  - Child, Preschool
MH  - Cyclin-Dependent Kinase Inhibitor p27/*genetics
MH  - Female
MH  - Gene Frequency
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Prognosis
MH  - Young Adult
PMC - PMC4511370
OTO - NOTNLM
OT  - CDKN1B
OT  - MEN1
OT  - neuroendocrine tumours
OT  - polymorphisms
OT  - prognosis
EDAT- 2015/04/01 06:00
MHDA- 2016/03/31 06:00
PMCR- 2015/07/01
CRDT- 2015/04/01 06:00
PHST- 2014/07/30 00:00 [received]
PHST- 2015/01/08 00:00 [accepted]
PHST- 2015/04/01 06:00 [entrez]
PHST- 2015/04/01 06:00 [pubmed]
PHST- 2016/03/31 06:00 [medline]
PHST- 2015/07/01 00:00 [pmc-release]
AID - 10.1111/jcmm.12552 [doi]
PST - ppublish
SO  - J Cell Mol Med. 2015 Jul;19(7):1735-41. doi: 10.1111/jcmm.12552. Epub 2015 Mar 
      30.