NRF1
Overview
NRF1 (Nuclear Respiratory Factor 1) is a transcription factor that regulates mitochondrial biogenesis and oxidative phosphorylation gene expression. In prostate cancer, NRF1 was identified as the 5’ fusion partner in a singleton sense-preserving structural fusion with BRAF, generated by chromoplexy.
Alterations observed in the corpus
- NRF1–BRAF singleton sense-preserving fusion detected in prostate tumor PR-4240 by whole-genome sequencing; the BRAF kinase domain is intact in the fusion product; hypothesized to drive overexpression or constitutive activation of an oncogenic BRAF kinase. Functional consequence was not experimentally validated PMID:23622249
Cancer types (linked)
- PRAD (Prostate Adenocarcinoma): NRF1–BRAF fusion identified as a singleton event in 1/26 prostate tumors, generated via chromoplexy PMID:23622249
Co-occurrence and mutual exclusivity
- Singleton event; co-occurring structural events in this specific tumor were not detailed beyond the chromoplexy classification PMID:23622249
Therapeutic relevance
- The NRF1–BRAF fusion, if constitutively activating BRAF kinase, would represent a potential target for BRAF or MEK inhibitors; no therapeutic experiments were performed in this study PMID:23622249
Open questions
- Whether the NRF1–BRAF fusion confers constitutive BRAF kinase activity and is a driver in this prostate tumor has not been experimentally validated; singleton occurrence limits statistical inference about recurrence PMID:23622249
Sources
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