Article
Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.
Nature genetics - 1 Dec 2013
Francis Joshua M, Kiezun Adam, Ramos Alex H, Serra Stefano, Pedamallu Chandra Sekhar, Qian Zhi Rong, Banck Michaela S, Kanwar Rahul, Kulkarni Amit A, Karpathakis Anna, Manzo Veronica, Contractor Tanupriya, Philips Juliet, Nickerson Elizabeth, Pho Nam, Hooshmand Susanne M, Brais Lauren K, Lawrence Michael S, Pugh Trevor, McKenna Aaron, Sivachenko Andrey, Cibulskis Kristian, Carter Scott L, Ojesina Akinyemi I, Freeman Samuel, Jones Robert T, Voet Douglas, Saksena Gordon, Auclair Daniel, Onofrio Robert, Shefler Erica, Sougnez Carrie, Grimsby Jonna, Green Lisa, Lennon Niall, Meyer Tim, Caplin Martyn, Chung Daniel C, Beutler Andreas S, Ogino Shuji, Thirlwell Christina, Shivdasani Ramesh, Asa Sylvia L, Harris Chris R, Getz Gad, Kulke Matthew, Meyerson Matthew
Abstract excerpt
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...
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