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The E 3 ubiquitin ligase UBR 5 is recurrently mutated in mantle cell lymphoma
| Content Provider | Semantic Scholar |
|---|---|
| Author | Meissner, Barbara Kridel, Robert Lim, Raymond S. Rogic, Sanja Tse, Kane Scott, David W. Moore, Richard O. Mungall, Andy J. Marra, Marco A. Connors, Joseph M. Steidl, Christian Gascoyne, Randy D. |
| Copyright Year | 2013 |
| Abstract | Mantle cell lymphoma (MCL) accounts for 7% of non-Hodgkin lymphomas and represents a particularly challenging disease with patient outcomes inferior to most other lymphoma subtypes. MCL is characterized on the molecular level by the hallmark t(11; 14)(q13;q32) translocation that results in overexpression of cyclin D1, and by frequent additional cytogenetic alterations. The complete mutational landscape has not been described to date. Using RNAseq as a discovery tool, we recently described recurrent NOTCH1 and CCND1 mutations. Herein we describe the targeted resequencing, in a larger cohort of patients, of mutated genes identified by RNAseq. We report frequent mutations in UBR5, a gene encoding an E3 ubiquitin-protein ligase that has not been implicated, thus far, in lymphomagenesis. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.bloodjournal.org/content/bloodjournal/121/16/3161.full.pdf?sso-checked=true |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
