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Nature genetics DOI:10.1038/ng.2821

Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.

Publication TypeJournal Article
Year of Publication2013
AuthorsFrancis, JM, Kiezun, A, Ramos, AH, Serra, S, Pedamallu, CS, Qian, ZR, Banck, MS, Kanwar, R, Kulkarni, AA, Karpathakis, A, Manzo, V, Contractor, T, Philips, J, Nickerson, E, Pho, N, Hooshmand, SM, Brais, LK, Lawrence, MS, Pugh, T, McKenna, A, Sivachenko, A, Cibulskis, K, Carter, SL, Ojesina, AI, Freeman, S, Jones, RT, Voet, D, Saksena, G, Auclair, D, Onofrio, R, Shefler, E, Sougnez, C, Grimsby, J, Green, L, Lennon, N, Meyer, T, Caplin, M, Chung, DC, Beutler, AS, Ogino, S, Thirlwell, C, Shivdasani, R, Asa, SL, Harris, CR, Getz, G, Kulke, M, Meyerson, M
JournalNature genetics
Date Published2013/12/01

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.