GFI1
Overview
GFI1 (Growth Factor Independent 1 Transcriptional Repressor) encodes a zinc-finger transcriptional repressor involved in hematopoietic differentiation and development. In cancer genomics, GFI1 is recurrently activated by structural variant (SV)-driven enhancer-hijacking in medulloblastoma, particularly in Group 3 and Group 4 subtypes, where aberrant induction is mutually exclusive with GFI1B activation.
Alterations observed in the corpus
- SV-driven aberrant induction (enhancer-hijacking) in both Group 3 and Group 4 medulloblastoma; mutually exclusive with GFI1B activation; identified in the ICGC/MAGIC 491-tumor whole-genome sequencing cohort spanning 1,256 methylation-profiled cases PMID:28726821.
Cancer types (linked)
- MBL: SV-driven enhancer-hijacking activating GFI1 distributed across Group 3 and Group 4 medulloblastoma subtypes PMID:28726821.
Co-occurrence and mutual exclusivity
- Mutually exclusive with GFI1B SV-driven induction in medulloblastoma Group 3 and Group 4 PMID:28726821.
Therapeutic relevance
- No direct therapeutic targets reported in the corpus to date.
Open questions
- The precise mechanism of GFI1 enhancer-hijacking in Group 3 vs. Group 4 medulloblastoma and whether the activation is distinguishable from GFI1B at the functional level remains to be established.
Sources
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