Article
Recurrent Loss of NFE2L2 Exon 2 Is a Mechanism for Nrf2 Pathway Activation in Human Cancers.
Cell reports - 6 Sept 2016
Goldstein Leonard D, Lee James, Gnad Florian, Klijn Christiaan, Schaub Annalisa, Reeder Jens, Daemen Anneleen, Bakalarski Corey E, Holcomb Thomas, Shames David S, Hartmaier Ryan J, Chmielecki Juliann, Seshagiri Somasekar, Gentleman Robert, Stokoe David
Abstract excerpt
The Nrf2 pathway is frequently activated in human cancers through mutations in Nrf2 or its negative regulator KEAP1. Using a cell-line-derived gene signature for Nrf2 pathway activation, we found that some tumors show high Nrf2 activity in the absence of known mutations in the pathway. An analysis of splice variants in oncogenes revealed that such tumors express abnormal transcript variants from the NFE2L2 gene...
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