This section shows a general overview of information 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
- Genes Analysed
- Mutated Samples
- Total No. of Samples