PMID- 17710155
OWN - NLM
STAT- MEDLINE
DCOM- 20071002
LR  - 20190608
IS  - 1476-5586 (Electronic)
IS  - 1522-8002 (Print)
IS  - 1476-5586 (Linking)
VI  - 9
IP  - 7
DP  - 2007 Jul
TI  - Mutational analysis of p27 (CDKN1B) and p18 (CDKN2C) in sporadic pancreatic 
      endocrine tumors argues against tumor-suppressor function.
PG  - 533-5
AB  - Pancreatic endocrine tumors (PETs) arise sporadically or are associated with 
      multiple endocrine neoplasia type 1 (MEN1) syndrome or von Hippel-Lindau 
      syndrome. About 90% of patients with familial MEN1 display detectable MEN1 gene 
      (menin) mutations. The cyclin-dependent kinase inhibitor p27 (CDKN1B) is a 
      downstream target of menin and has been recently shown to be responsible for the 
      multiple endocrine neoplasia-like syndrome in rats, where affected animals 
      develop multiple tumors and hyperplasia in endocrine tissues, including the 
      pancreatic islets of Langerhans. A germline nonsense truncation mutation of p27 
      has been recently described in a suspected MEN1 family without MEN1 mutation, 
      raising the possibility that p27 mutation could be responsible for MEN1 
      phenotype. Somatic MEN1 mutations occur at low frequency in sporadic PETs; here, 
      we subjected p27 to mutational analysis in 27 sporadic PETs. As an additional 
      menin target, analysis of the p18 (CDKN2C) gene was included. In the p27 gene, 
      one common polymorphism (V109G) and one novel polymorphism (g/a) in the noncoding 
      part of exon 2 were identified. Three known polymorphisms were found in the p18 
      gene. These data suggest that p27 and p18 are unlikely to present classic 
      tumor-suppressor genes in sporadic PETs.
FAU - Lindberg, Daniel
AU  - Lindberg D
AD  - Department of Surgical Sciences, Endocrine Unit, Uppsala University Hospital, 
      Uppsala, Sweden.
FAU - Akerstrom, Goran
AU  - Akerstrom G
FAU - Westin, Gunnar
AU  - Westin G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neoplasia
JT  - Neoplasia (New York, N.Y.)
JID - 100886622
RN  - 0 (Codon, Nonsense)
RN  - 0 (Cyclin-Dependent Kinase Inhibitor p18)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27)
SB  - IM
MH  - Codon, Nonsense/genetics
MH  - Cyclin-Dependent Kinase Inhibitor p18/*genetics
MH  - Cyclin-Dependent Kinase Inhibitor p27/*genetics
MH  - Germ-Line Mutation/genetics
MH  - Humans
MH  - Insulinoma/*genetics
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pancreatic Neoplasms/*genetics
MH  - Proto-Oncogene Proteins/genetics
MH  - Tumor Suppressor Proteins/*genetics
PMC - PMC1939927
EDAT- 2007/08/22 09:00
MHDA- 2007/10/03 09:00
PMCR- 2007/07/01
CRDT- 2007/08/22 09:00
PHST- 2007/04/06 00:00 [received]
PHST- 2007/05/04 00:00 [revised]
PHST- 2007/05/07 00:00 [accepted]
PHST- 2007/08/22 09:00 [pubmed]
PHST- 2007/10/03 09:00 [medline]
PHST- 2007/08/22 09:00 [entrez]
PHST- 2007/07/01 00:00 [pmc-release]
AID - 07328 [pii]
AID - 10.1593/neo.07328 [doi]
PST - ppublish
SO  - Neoplasia. 2007 Jul;9(7):533-5. doi: 10.1593/neo.07328.