This section shows a summary for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.
- Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.
- Paper ID
- 1] Broad Institute, Cambridge, Massachusetts, USA.  Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA. .
Nature genetics, 2013;45(12):1483-6
PMID: 24185511 (view at PubMed or Europe PMC)
- 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.
- Paper Status