ASCL4

Overview

ASCL4 (Achaete-Scute Family BHLH Transcription Factor 4) is a basic helix-loop-helix transcription factor involved in neuronal and epithelial differentiation. In lung squamous cell carcinoma, ASCL4 has been identified as a component of the squamous differentiation pathway, with loss-of-function mutations contributing to the altered differentiation state characteristic of this cancer type.

Alterations observed in the corpus

  • Loss-of-function mutations in ASCL4 identified in TCGA lung squamous cell carcinoma cohort (178 tumors); ASCL4 is part of the squamous differentiation pathway altered in 44% of LUSC tumors, alongside NOTCH1/NOTCH2 loss-of-function and SOX2/TP63 amplification PMID:22960745

Cancer types (linked)

  • LUSC: ASCL4 loss-of-function mutations observed as part of the 44% squamous differentiation pathway alteration rate; co-occurs with NOTCH1/NOTCH2 truncating mutations and SOX2/TP63 3q26 amplification PMID:22960745

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic targeting reported in the corpus.

Open questions

  • Functional role of ASCL4 in squamous differentiation relative to NOTCH pathway members is not yet characterized in this context.

Sources

  • PMID:22960745 — TCGA comprehensive genomic characterization of lung squamous cell carcinoma (178 tumors)

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