XRCC4
Overview
XRCC4 (X-Ray Repair Cross Complementing 4) encodes a component of the non-homologous end-joining (NHEJ) DNA double-strand break repair complex. In salivary gland adenoid cystic carcinoma (ACC), XRCC4 has been identified as a novel 5’-NFIB fusion partner, implicating NHEJ machinery in the chromosomal rearrangements that drive ACC oncogenesis.
Alterations observed in the corpus
- Novel 5’-NFIB fusion partner in t(6;9)-positive/MYB-NFIB-negative ACC tumors; XRCC4 fuses its 5’ end (exons 1–2) with NFIB in salivary adenoid cystic carcinoma PMID:26631609
Cancer types (linked)
- ACYC: Novel gene fusion (XRCC4-NFIB) identified in MYB-NFIB-negative ACC; part of a panel of rare alternative NFIB fusion partners PMID:26631609
Co-occurrence and mutual exclusivity
- XRCC4-NFIB fusion occurs in t(6;9)-positive tumors that lack the canonical MYB-NFIB fusion, placing it within the MYB-driven ACC molecular subclass PMID:26631609
Therapeutic relevance
Open questions
- Whether XRCC4-NFIB fusion functions equivalently to MYB-NFIB in driving ACC oncogenesis is uncharacterized; functional studies of this novel fusion have not been reported.
Sources
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