Gene

SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

Explore in graph →CI-GENE-00031395HGNC:11100 ENSG00000127616 NCBI 6597 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (19)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–19 of 19 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
EZH2 Mutation + SMARCA4 Loss + SMARCB1 LossEZH2 SMARCA4 SMARCB11
Tazemetostat	Malignant NeoplasmALIAS

Cohorts

Alteration frequency by cohort (198)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved198 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Small Cell Carcinoma of the Ovary (MSK, Nat Genet 2014) scco_mskcc	Ovarian Small Cell Carcinoma	Ssm

Literature

Linked publications (4)

25 per page, newest first.

pubmedPublishedShowing 1–4 of 4 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
· Nat Genet · 2014 · PMID 24658004 · validated civic_curation pubmed
SMARCA4/BRG1 Is a Novel Prognostic Biomarker Predictive of Cisplatin-Based Chemotherapy Outcomes in Resected Non-Small Cell Lung Cancer.
· Clin Cancer Res · 2016 · PMID 26671993 · validated civic_curation pubmed
Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
· Rare Dis · 2014 · PMID 26942101 · validated civic_curation pubmed
SMARCA4 loss is synthetic lethal with CDK4/6 inhibition in non-small cell lung cancer.
· Nat Commun · 2019 · PMID 30718506 · validated civic_curation pubmed

SMARCA4 G1162C1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	4	submitted	EID12726 In a large retrospective study evaluating SMARCA4 variants from 131,668 solid tumor patients, 9434 patients were identified to have one or more SMARCA4 variants. The G1162 residue was noted to be a re… (full text at CIViC) PMID 33144586 · Fernando et al., 2020 · Open in CIViC	civic

SMARCA4 G1162C1

(functional)

—UNRESOLVED

Functional

Supports Loss Of Function

submitted

EID12726

In a large retrospective study evaluating SMARCA4 variants from 131,668 solid tumor patients, 9434 patients were identified to have one or more SMARCA4 variants. The G1162 residue was noted to be a re… (full text at CIViC)

PMID 33144586 · Fernando et al., 2020 · Open in CIViC

SMARCA4 INACTIVATING MUTATION3
(prognostic)	Lung Adenocarcinoma	Prognostic	B	Supports Poor Outcome	4	accepted	EID513 In patients with lung adenocarcinoma, those with loss-of-function mutations in SMARCA4 had worse overall survival than those with only missense or no mutations. PMID 24658004 · Jelinic et al., 2014 · Open in CIViC	civic
(diagnostic)	Small-cell Carcinoma Of The Ovary Of Hypercalcemic TypeUNRESOLVED	Diagnostic	B	Supports Positive	3	accepted	EID8065 Performed Sanger sequencing and immunohistochemistry of SMARCA4 in 12 SCCOHT (Small cell carcinoma of the ovary, hypercalcemic type) tumors. When complementing this data with data previous data from o… (full text at CIViC) PMID 26942101 · Ramos et al., 2014 · Open in CIViC	civic
Tozasertib	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	submitted	EID5928 AURKA activity is essential in NSCLC cells lacking SMARCA4/BRG1. In these cells, RNAi-mediated depletion or chemical inhibition of AURKA induces apoptosis and cell death in vitro and in xenograft mous… (full text at CIViC) PMID 28102363 · Tagal et al., 2017 · Open in CIViC	civic

SMARCA4 Loss5
(diagnostic)	Atypical Teratoid/Rhabdoid Tumor	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
〃	Small-cell Carcinoma Of The Ovary Of Hypercalcemic TypeUNRESOLVED	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
〃	Small-cell Carcinoma Of The Ovary Of Hypercalcemic TypeUNRESOLVED	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
Abemaciclib + PalbociclibSubstitutes	Lung Non-Small Cell CarcinomaCURATED_BROADER	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 … (full text at CIViC) PMID 30718506 · Xue et al., 2019 · Open in CIViC	civic
Abemaciclib + Palbociclib + RibociclibSubstitutes	Ovarian Small Cell Carcinoma	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