TFAP4

Overview

TFAP4 (Transcription Factor AP-4) is a basic helix-loop-helix leucine zipper transcription factor that activates or represses transcription in response to MYC signaling. In salivary gland adenoid cystic carcinoma (ACC), TFAP4 carries exclusive somatic mutations in the MYB-NFIB fusion-positive subtype, though its role requires further validation.

Alterations observed in the corpus

• Exclusive somatic mutations in the MYB-NFIB fusion-positive ACC subtype (t(6;9) tumors); functional significance requires validation in larger cohorts PMID:26631609
• A-allele-preferring binder at rs4519489 identified by proteomics and EEL motif analysis; not enriched by ChIP-qPCR at the locus in prostate cancer eQTL study PMID:28927585

Cancer types (linked)

• ACYC: Exclusive mutations in the MYB-NFIB fusion-positive subgroup of salivary adenoid cystic carcinoma PMID:26631609

Co-occurrence and mutual exclusivity

• Mutations exclusive to the MYB-NFIB fusion subtype of ACC (mutually exclusive with MYBL1-NFIB and fusion-negative subgroups) PMID:26631609

Therapeutic relevance

Open questions

• The oncogenic role and clinical significance of TFAP4 mutations in ACC require validation in larger cohorts PMID:26631609

Sources

• PMID:26631609

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