ZNF750

Overview

ZNF750 (Zinc Finger Protein 750) is a transcription factor that regulates squamous-cell differentiation. It has been identified as a novel tumor suppressor in esophageal squamous cell carcinoma (ESCC), with recurrent truncating mutations and focal deletions.

Alterations observed in the corpus

• ZNF750 is significantly mutated (q = 1.24E-06) in ESCC, predominantly truncating mutations; focal deletion in 3.4% of ESCC; mRNA and protein down-regulated; functional novel tumor suppressor regulating squamous-cell differentiation PMID:24686850
• TP63 transcriptional target; mutated in 4% of HNSCC within the significant 17q25.3 deletion peak (TCGA, n=279) PMID:25631445
• Significantly mutated in ESCC (enriched in ESCC2 molecular subtype); acts as a modulator of squamous cell maturation alongside NOTCH1 PMID:28052061

Cancer types (linked)

• Esophageal squamous cell carcinoma (ESCC): significantly mutated tumor suppressor with focal deletion in 3.4% of cases PMID:24686850

Co-occurrence and mutual exclusivity

Therapeutic relevance

Open questions

Sources

• PMID:24686850

• PMID:25631445

• PMID:28052061

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