Somatic mutation of CDKN1B in small intestine neuroendocrine tumors

Joshua M. Francis, 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 McKennaAndrey 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

Research output: Contribution to journalArticlepeer-review

250 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1483-1486
Number of pages4
JournalNature Genetics
Issue number12
StatePublished - Dec 2013

Bibliographical note

Funding Information:
This work was supported by grants from the Caring for Carcinoid Foundation (S.L.A. and M.M.), the Raymond and Beverly Sackler Foundation for the Arts and Sciences (C.T., A. Karpathakis, S.L.A. and M.M.) and Cancer Research UK (C.T. and A. Karpathakis).


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