Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.
Nat Genet
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| 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
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| Journal | Nat Genet
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| Volume | 45
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| Issue | 12
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| Pages | 1483-6
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| Date Published | 2013 Dec
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| ISSN | 1546-1718
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| URL | |
| DOI | 10.1038/ng.2821
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| PubMed ID | 24185511
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| PubMed Central ID | PMC4239432
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| 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
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