SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity - PubMed
6 hours ago
- #SMARCB1 mutations
- #chromatin remodeling
- #SWI/SNF complex
- SMARCB1 missense mutations can destabilize the SWI/SNF complex and impair its chromatin remodeling and transcriptional regulation functions, similar to nonsense mutations.
- These functional defects occur even when protein expression is detectable, challenging current diagnostic reliance on immunohistochemistry (IHC).
- The study involved a comprehensive deep mutational scanning of SMARCB1, covering 8,418 alterations to assess their functional impact.
- The findings highlight the limitations of mutation classification approaches in diagnostics and provide deeper insights into SMARCB1's role in cancer biology.