SMARCD1
Overview
SMARCD1 encodes a subunit of the SWI/SNF chromatin remodeling complex, which uses ATP hydrolysis to reposition nucleosomes and regulate gene expression. As a component of the BAF (BRG1-associated factor) complex, SMARCD1 contributes to transcriptional control of differentiation and proliferation programs. Inactivating mutations in SMARCD1 implicate the SWI/SNF pathway as a cancer driver in breast cancer, consistent with the broader pattern of SWI/SNF subunit mutations across human malignancies.
Alterations observed in the corpus
- Inactivating mutations identified in breast cancer WES of 100 tumors (Sanger cohort); loss of function implicates the SWI/SNF chromatin remodeling complex in breast cancer pathogenesis PMID:22722201
Cancer types (linked)
- Breast cancer (BRCA): Recurrent inactivating mutations observed in breast tumors; co-occurs with mutations in other SWI/SNF components (e.g., ARID1B) PMID:22722201
Co-occurrence and mutual exclusivity
- Co-mutated with ARID1B (another SWI/SNF subunit) in breast cancer, suggesting convergent inactivation of the chromatin remodeling complex PMID:22722201
Therapeutic relevance
- No direct targeted therapies identified in the corpus. SWI/SNF-deficient tumors may have synthetic lethal vulnerabilities (e.g., EZH2 dependence), but this has not been specifically studied for SMARCD1 in the corpus papers.
Open questions
- Whether SMARCD1 mutations co-occur with or are mutually exclusive from SMARCA4/SMARCB1 mutations in breast cancer requires larger cohort analysis.
Sources
- PMID:22722201 — Breast cancer WES, 100 tumors, Sanger Institute
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