Somatic mutation of CDKN1B in small intestine neuroendocrine tumors

Nat Genet. 2013 Dec;45(12):1483-6. doi: 10.1038/ng.2821. Epub 2013 Nov 3.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle / genetics
  • Cohort Studies
  • Cyclin-Dependent Kinase Inhibitor p27 / genetics*
  • Genes, Tumor Suppressor
  • Genetic Predisposition to Disease
  • Humans
  • Intestinal Neoplasms / epidemiology
  • Intestinal Neoplasms / genetics*
  • Intestinal Neoplasms / pathology
  • Intestine, Small / pathology
  • Mutation*
  • Neuroendocrine Tumors / epidemiology
  • Neuroendocrine Tumors / genetics*
  • Neuroendocrine Tumors / pathology
  • Sequence Analysis, DNA

Substances

  • CDKN1B protein, human
  • Cyclin-Dependent Kinase Inhibitor p27