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dc.contributor.authorPugh, T Jen_US
dc.contributor.authorYu, Wen_US
dc.contributor.authorYang, Jen_US
dc.contributor.authorField, A Len_US
dc.contributor.authorAmbrogio, Len_US
dc.contributor.authorCarter, S Len_US
dc.contributor.authorCibulskis, Ken_US
dc.contributor.authorGiannikopoulos, Pen_US
dc.contributor.authorKiezun, Aen_US
dc.contributor.authorKim, Jen_US
dc.contributor.authorMcKenna, Aen_US
dc.contributor.authorNickerson, Een_US
dc.contributor.authorGetz, Gen_US
dc.contributor.authorHoffher, Sen_US
dc.contributor.authorMessinger, Y Hen_US
dc.contributor.authorDehner, L Pen_US
dc.contributor.authorRoberts, C W Men_US
dc.contributor.authorRodriguez-Galindo, Cen_US
dc.contributor.authorWilliams, G Men_US
dc.contributor.authorRossi, C Ten_US
dc.contributor.authorMeyerson, Men_US
dc.contributor.authorHill, D Aen_US
dc.date.accessioned2015-02-02T15:33:17Z
dc.date.issued2014en_US
dc.identifier.citationPugh, T. J., W. Yu, J. Yang, A. L. Field, L. Ambrogio, S. L. Carter, K. Cibulskis, et al. 2014. “Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.” Oncogene 33 (45): 5295-5302. doi:10.1038/onc.2014.150. http://dx.doi.org/10.1038/onc.2014.150.en
dc.identifier.issn0950-9232en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:13890760
dc.description.abstractPleuropulmonary blastoma is a rare childhood malignancy of lung mesenchymal cells that can remain dormant as epithelial cysts or progress to high-grade sarcoma. Predisposing germline loss-of-function DICER1 variants have been described. We sought to uncover additional contributors through whole exome sequencing of 15 tumor/normal pairs, followed by targeted resequencing, miRNA analysis and immunohistochemical analysis of additional tumors. In addition to frequent biallelic loss of TP53 and mutations of NRAS or BRAF in some cases, each case had compound disruption of DICER1: a germline (12 cases) or somatic (3 cases) loss-of-function variant plus a somatic missense mutation in the RNase IIIb domain. 5p-Derived microRNA (miRNA) transcripts retained abnormal precursor miRNA loop sequences normally removed by DICER1. This work both defines a genetic interaction landscape with DICER1 mutation and provides evidence for alteration in miRNA transcripts as a consequence of DICER1 disruption in cancer.en
dc.language.isoen_USen
dc.publisherNature Publishing Groupen
dc.relation.isversionofdoi:10.1038/onc.2014.150en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224628/pdf/en
dash.licenseLAAen_US
dc.titleExome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequencesen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalOncogeneen
dc.date.available2015-02-02T15:33:17Z
dc.identifier.doi10.1038/onc.2014.150*
dash.authorsorderedfalse


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