Somatic mutation of CDKN1B in small intestine neuroendocrine tumors

Academic Article

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. © 2013 Nature America, Inc.
  • Published In

  • Nature Genetics  Journal
  • Digital Object Identifier (doi)

    Author List

  • Francis JM; Kiezun A; Ramos AH; Serra S; Pedamallu CS; Qian ZR; Banck MS; Kanwar R; Kulkarni AA; Karpathakis A
  • Start Page

  • 1483
  • End Page

  • 1486
  • Volume

  • 45
  • Issue

  • 12