SMARCE1
Overview
SMARCE1 is a subunit of the SWI/SNF chromatin remodeling complex that contains an HMG-box DNA-binding domain. In adenoid cystic carcinoma (ACC), SMARCE1 harbors a missense mutation (Y73C) in its HMG-box, predicted to impair DNA binding and suggesting a loss-of-function mechanism consistent with its role as a chromatin remodeling complex component.
Alterations observed in the corpus
- HMG-box missense Y73C; frequency 2%; predicted loss of DNA-binding function; SWI/SNF complex subunit in adenoid cystic carcinoma. PMID:23685749
- Putative miR-200a target in extra-cranial MRT, suggesting miRNA-mediated dysregulation of SWI/SNF complex members PMID:26977886
Cancer types (linked)
- ACYC (Adenoid Cystic Carcinoma): Missense mutation in HMG-box domain; part of the broader SWI/SNF subunit mutation landscape in ACC alongside SMARCA2 and ARID1A. PMID:23685749
Co-occurrence and mutual exclusivity
- Mutated in the same tumor type as other SWI/SNF complex members SMARCA2 and ARID1A in ACC; SWI/SNF complex mutations collectively affect 12/24 cases in the extended ACC cohort. PMID:23685749
Therapeutic relevance
- No direct therapeutic implication reported; SWI/SNF complex vulnerability (synthetic lethality) is an area of active investigation across cancers. PMID:23685749
Open questions
- Whether SMARCE1 Y73C is functionally inactivating in an ACC cellular context has not been directly tested. PMID:23685749
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:26977886
This page was processed by wiki-cli on 2026-05-14.