| Literature DB >> 24185511 |
Joshua M Francis1, Adam Kiezun, Alex H Ramos, Stefano Serra, Chandra Sekhar Pedamallu, Zhi Rong Qian, Michaela S Banck, Rahul Kanwar, Amit A Kulkarni, Anna Karpathakis, Veronica Manzo, Tanupriya Contractor, Juliet Philips, Elizabeth Nickerson, Nam Pho, Susanne M Hooshmand, Lauren K Brais, Michael S Lawrence, Trevor Pugh, Aaron McKenna, Andrey Sivachenko, Kristian Cibulskis, Scott L Carter, Akinyemi I Ojesina, Samuel Freeman, Robert T Jones, Douglas Voet, Gordon Saksena, Daniel Auclair, Robert Onofrio, Erica Shefler, Carrie Sougnez, Jonna Grimsby, Lisa Green, Niall Lennon, Tim Meyer, Martyn Caplin, Daniel C Chung, Andreas S Beutler, Shuji Ogino, Christina Thirlwell, Ramesh Shivdasani, Sylvia L Asa, Chris R Harris, Gad Getz, Matthew Kulke, Matthew Meyerson.
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.Entities:
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Year: 2013 PMID： 24185511 PMCID： PMC4239432 DOI： 10.1038/ng.2821
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330