Ontology highlight
ABSTRACT:
SUBMITTER: Francis JM
PROVIDER: S-EPMC4239432 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Nature genetics 20131103 12
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 ...[more]