SMARCA4 Loss

CI-VAR-00002492Explore in graph →CIViC 2644

Curated evidence

Evidence by cancer (6 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–6 of 6 evidence items across 5 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Atypical Teratoid/Rhabdoid Tumor1
SMARCA4 Loss	(diagnostic)	Diagnostic	A	Supports Positive	5	submitted	EID8864 Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC	civic
Lung Non-Small Cell Carcinoma1
SMARCA4 Loss	Abemaciclib + PalbociclibSubstitutes	Predictive	D	Supports Sensitivity Response	4	accepted	EID7155 Preclinical evidence showing that SMARCA4 inactivation results in downregulation of Cyclin D1 in NSCLC cells and confers sensitivity of such to CDK4/6 inhibitors. SMARCA4 loss is synthetic letha with …

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Malignant Neoplasm1
EZH2 Mutation OR SMARCA4 Loss OR SMARCB1 Loss	Tazemetostat	Predictive	B	Does Not Support Sensitivity Response	3	submitted	EID11694 In this NCI-COG pediatric MATCH trial, 20 patients (aged 1-21 years) harboring tumors with EZH2 mutations or SMARCB1 or SMARCA4 loss were treated with tazemetostat. The most frequent tumor types were … (full text at CIViC) PMID 37228094 · Chi et al., 2023 · Open in CIViC	civic

Ovarian Small Cell Carcinoma1
SMARCA4 Loss	Abemaciclib + Palbociclib + RibociclibSubstitutes	Predictive	D	Supports Sensitivity Response	4	submitted	EID7154 Inactivating mutations in SMARCA4 underlie small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). The authors show that loss of SMARCA4 leads to downregulation of Cyclin D1 and deficient cell… (full text at CIViC) PMID 30718512 · Xue et al., 2019 · Open in CIViC	civic

Small-cell Carcinoma Of The Ovary Of Hypercalcemic Type2unmapped disease
SMARCA4 Loss	(diagnostic)	Diagnostic	B	Supports Positive	4	rejected	EID7960 IHC analysis of tissue microarrays or slides demonstrated loss of SMARCA4 expression in 42/46 (91%) SCCOHT primary tumors, 2/2 SCCOHT (100%) patient-derived xenografts, and 2/2 (100%) SCCOHT derived c… (full text at CIViC) PMID 26356327 · Karnezis et al., 2016 · Open in CIViC	civic
SMARCA4 Loss	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID7961 IHC analysis of tissue microarrays or slides demonstrated loss of SMARCA4 expression in 42/46 (91%) SCCOHT primary tumors, 2/2 SCCOHT (100%) patient-derived xenografts, and 2/2 (100%) SCCOHT derived c… (full text at CIViC) PMID 26356327 · Karnezis et al., 2016 · Open in CIViC	civic