IRF6
Overview
IRF6 (Interferon Regulatory Factor 6) is a transcription factor involved in squamous epithelial differentiation. It was identified as a significantly mutated gene in head and neck squamous cell carcinoma (HNSCC), implicating disrupted squamous differentiation programs as a driver mechanism in this cancer type.
Alterations observed in the corpus
- Recurrently mutated in HNSCC across 74 tumor-normal pairs by whole-exome sequencing; associated with squamous differentiation (q < 0.25, Broad cohort) PMID:21798893
- IRF6 identified as a MutSigCV-significant gene in pancreatic ductal adenocarcinoma (109-case WES cohort); functional role in PDA biology not established — oncogenic vs. passenger status awaits validation PMID:25855536
Cancer types (linked)
- HNSC: Significantly mutated gene identified by MutSigCV analysis; co-occurs with TP63 alterations in the squamous differentiation pathway PMID:21798893
Co-occurrence and mutual exclusivity
- Co-mutated with TP63 in HNSCC, both implicated in disruption of squamous differentiation PMID:21798893
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus; its role in squamous differentiation may inform differentiation-based therapeutic strategies.
Open questions
- Whether IRF6 mutations are drivers or passengers in HNSCC requires functional validation.
- Relationship between IRF6 mutation status and HPV status has not been characterized in the corpus.
Sources
This page was processed by entity-page-writer on 2026-05-06. - PMID:25855536
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