http://purl.uniprot.org/citations/26631609 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/26631609 | http://www.w3.org/2000/01/rdf-schema#comment | "PurposeAdenoid cystic carcinoma (ACC) is an indolent salivary gland malignancy, characterized by t(6;9) translocations and MYB-NFIB gene fusions in approximately 50% of the tumors. The genetic alterations underlying t(6;9)-negative and t(6;9)-positive/MYB-NFIB fusion-negative ACC remain unknown. To uncover the genetic alterations in ACC lacking the canonical translocation and fusion transcript and identify new abnormalities in translocation positive tumors.Experimental designWe performed whole-genome sequencing in 21 salivary ACCs and conducted targeted molecular analyses in a validation set (81 patients). Microarray gene-expression data were also analyzed to explore the biologic differences between fusion positive and negative tumors.ResultsWe identified a novel MYBL1-NFIB gene fusion as a result of t(8;9) translocation and multiple rearrangements in the MYBL1 gene in 35% of the t(6;9)-negative ACCs. All MYBL1 alterations involved deletion of the C-terminal negative regulatory domain and were associated with high MYBL1 expression. Reciprocal MYB and MYBL1 expression was consistently found in ACCs. In addition, 5'-NFIB fusions that did not involve MYB/MYBL1 genes were identified in a subset of t(6;9)-positive/fusion-negative tumors. We also delineated distinct gene-expression profiles in ACCs associated with the length of the MYB or MYBL1 fusions, suggesting a biologic importance of the C-terminal part of these fusions.ConclusionsOur study defines new molecular subclasses of ACC characterized by MYBL1 rearrangements and 5'-NFIB gene fusions."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.org/dc/terms/identifier | "doi:10.1158/1078-0432.ccr-15-2867-t"xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Liu B."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Futreal P.A."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Mitani Y."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Rao P.H."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Lozano G."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "El-Naggar A.K."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Caulin C."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Kies M."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Weber R.S."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Borra V.J."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/author | "Zafereo M."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/name | "Clin Cancer Res"xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/pages | "725-733"xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/title | "Novel MYBL1 Gene Rearrangements with Recurrent MYBL1-NFIB Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations."xsd:string |
http://purl.uniprot.org/citations/26631609 | http://purl.uniprot.org/core/volume | "22"xsd:string |
http://purl.uniprot.org/citations/26631609 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26631609 |
http://purl.uniprot.org/citations/26631609 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26631609 |
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http://purl.uniprot.org/uniprot/#_B4DS74-mappedCitation-26631609 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26631609 |