Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.

Nat Genet
Authors
Keywords
Abstract

The diagnosed incidence of small intestine neuroendocrine tumors (SI-NETs) is increasing, and the underlying genomic mechanisms have not yet been defined. Using exome- and genome-sequence analysis of SI-NETs, we identified recurrent somatic mutations and deletions in CDKN1B, the cyclin-dependent kinase inhibitor gene, which encodes p27. We observed frameshift mutations of CDKN1B in 14 of 180 SI-NETs, and we detected hemizygous deletions encompassing CDKN1B in 7 out of 50 SI-NETs, nominating p27 as a tumor suppressor and implicating cell cycle dysregulation in the etiology of SI-NETs.

Year of Publication
2013
Journal
Nat Genet
Volume
45
Issue
12
Pages
1483-6
Date Published
2013 Dec
ISSN
1546-1718
URL
DOI
10.1038/ng.2821
PubMed ID
24185511
PubMed Central ID
PMC4239432
Links
Grant list
12183 / Cancer Research UK / United Kingdom
P30 CA015083 / CA / NCI NIH HHS / United States
P50 CA127003 / CA / NCI NIH HHS / United States
Cancer Research UK / United Kingdom