TBR1
Overview
TBR1 (T-Box Brain Transcription Factor 1) encodes a T-box transcription factor with critical roles in brain development, particularly in the specification and migration of cortical neurons. TBR1 is expressed in postmitotic neurons and regulates genes involved in axon guidance and synaptic connectivity. In medulloblastoma, TBR1 shows subgroup-specific expression patterns and recurrent somatic mutations in Group 4 tumors, suggesting a role in the neural developmental context of this cancer subgroup.
Alterations observed in the corpus
- Recurrent p.G275C missense mutation identified in 3 Group 4 medulloblastoma cases in the ICGC WGS/WES cohort (76 tumors); TBR1 shows subgroup-specific expression and is a T-box transcription factor involved in brain development PMID:22832583
Cancer types (linked)
- MB: Recurrent p.G275C mutation enriched in Group 4 medulloblastoma (3 cases); subgroup-specific expression across WNT, SHH, Group 3, and Group 4 PMID:22832583
Co-occurrence and mutual exclusivity
- EOMES: Inversely expressed with TBR1 in Group 4 medulloblastoma; methylation-dependent differential expression across subgroups suggests antagonistic developmental programs PMID:22832583
Therapeutic relevance
- No direct therapeutic targeting data available; subgroup-specific expression may serve as a biomarker for Group 4 medulloblastoma classification PMID:22832583
Open questions
- Functional validation of the recurrent p.G275C mutation was not performed; the oncogenic mechanism by which TBR1 mutations contribute to Group 4 medulloblastoma pathogenesis is unknown PMID:22832583
Sources
- PMID:22832583 — Medulloblastoma WGS/WES, ICGC, 76 tumors (125 total with validation)
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