Gene

SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

Explore in graph →CI-GENE-00031402HGNC:11103 ENSG00000099956 NCBI 6598 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (26)

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

civicCuratedShowing 1–26 of 26 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 (52)

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

cbioportalObserved52 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
Rhabdoid Cancer (BCGSC, Cancer Cell 2016) mrt_bcgsc_2016	Rhabdoid Tumor	Ssm	8	40

Literature

Linked publications (10)

25 per page, newest first.

pubmedPublishedShowing 1–10 of 10 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms.
· Am J Surg Pathol · 2004 · PMID 15105654 · validated civic_curation pubmed
Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions.
· Mod Pathol · 2013 · PMID 23060122 · validated civic_curation pubmed
Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.
· Mod Pathol · 2019 · PMID 30980040 · validated civic_curation pubmed
SMARCB1/INI1 inactivation in renal medullary carcinoma.
· Histopathology · 2012 · PMID 22686875 · validated civic_curation pubmed

SMARCB1 Deletion4
(diagnostic)	Poorly Differentiated Chordoma	Diagnostic	B	Supports Positive	2	rejected	EID11179 Copy number profiling revealed loss of chromosome 22q including the SMARCB1 locus as the only recurrent alteration in 7 of 7 poorly differentiated chordomas. FISH or MLPA was used to confirm heterozy… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic
Panobinostat	Rhabdoid TumorALIAS	Predictive	D	Supports Sensitivity Response	3	submitted	EID1964 Sustained low-dose panobinostat (LBH589) treatment of rhabdoid tumor cells led to changes in cellular morphology associated with a marked increase in the induction of differentiation pathways. In mous… (full text at CIViC) PMID 26920892 · Muscat et al., 2016 · Open in CIViC	civic
Tazemetostat	Epithelioid Sarcoma	Predictive	A	Supports Sensitivity Response	4	submitted	EID9992 In this phase II, multicenter study of tazemetostat (EZH2 inhibitor) in adults with INI1-negative tumors or relapsed/refractory synovial sarcoma, subjects were enrolled into one of 7 cohorts. Cohort #… (full text at CIViC) PMID 33035459 · Gounder et al., 2020 · Open in CIViC	civic
〃	Rhabdoid TumorALIAS	Predictive	D	Supports Sensitivity Response	3	accepted	EID1740 EPZ-6438 (Tazemetostat) induces apoptosis and differentiation specifically in SMARCB1-deleted malignant rhabdoid tumors (MRT) cells. This study compared in vitro EPZ-6438 treatment of four SMARCB1-del… (full text at CIViC) PMID 23620515 · Knutson et al., 2013 · Open in CIViC	civic

SMARCB1 Deletion4

(diagnostic)

Poorly Differentiated Chordoma

Diagnostic

Supports Positive

rejected

EID11179

Copy number profiling revealed loss of chromosome 22q including the SMARCB1 locus as the only recurrent alteration in 7 of 7 poorly differentiated chordomas. FISH or MLPA was used to confirm heterozy… (full text at CIViC)

PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC

SMARCB1 Loss15
(diagnostic)	Atypical Teratoid/Rhabdoid Tumor	Diagnostic	A	Supports Positive	5	submitted	EID8863 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
〃	Atypical Teratoid/Rhabdoid Tumor	Diagnostic	B	Supports Positive	4	accepted	EID8862 53 pediatric tumors consisting of 20 AT/RT, 10 PNET, and 23 other central nervous system tumors were classified using microscopic diagnosis, and then tested for expression of the SMARCB1 gene product … (full text at CIViC) PMID 15105654 · Judkins et al., 2004 · Open in CIViC	civic
(oncogenic)	Epithelioid Sarcoma	Oncogenic	B	Supports Oncogenicity	3	accepted	EID9993 This study aimed to characterize the spectrum of SMARCB1 gene abnormalities in epithelioid sarcoma. 19/21 patients were SMARCB1 immunohistochemistry-negative. Multiplex ligation dependent probe amplif… (full text at CIViC) PMID 23060122 · Sullivan et al., 2013 · Open in CIViC	civic
(diagnostic)	Poorly Differentiated Chordoma	Diagnostic	B	Supports Positive	3	submitted	EID11170 All 7 of 7 poorly differentiated chordomas exhibited loss of SMARCB1 expression while SMARCB1 expression was retained in 14 conventional chordomas. Copy number profiling revealed loss of chromosome 2… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic
〃	Rhabdoid TumorALIAS	Diagnostic	B	Does Not Support Positive	2	accepted	EID11090 The authors characterized the occurrence of SMARCB1 gene loss in epithelioid sarcomas. SMARCB1 immunohistochemistry staining demonstrated 19/21 patient samples were negative. Multiplex ligation depend… (full text at CIViC) PMID 23060122 · Sullivan et al., 2013 · Open in CIViC	civic
〃	Renal Medullary Carcinoma	Diagnostic	B	Supports Positive	2	accepted	EID11165 In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients had loss of SMARCB1 staining by IHC. FISH revealed 11 (55%) had a SMARCB1 translocation with loss of the second… (full text at CIViC) PMID 30980040 · Jia et al., 2019 · Open in CIViC	civic
〃	Renal Medullary Carcinoma	Diagnostic	B	Supports Positive	2	accepted	EID11167 In a comparison of 6 renal medullary carcinomas (RMC) and 22 collecting duct carcinomas (CDC), all 6 RMC were negative for SMARCB1 by IHC whereas only 1 of 22 CDC lost SMARCB1 expressing, supporting S… (full text at CIViC) PMID 22686875 · Calderaro et al., 2012 · Open in CIViC	civic
〃	SMARCB1-Deficient Kidney Medullary CarcinomaALIAS	Diagnostic	B	Supports Positive	2	accepted	EID11168 In a retrospective analysis of 23 renal medullary carcinoma patients with tumor sample available for IHC staining, all exhibited a loss of SMARCB1 expression. Of 10 tumors analyzed by FISH, SMARCB1 g… (full text at CIViC) PMID 28558987 · Carlo et al., 2017 · Open in CIViC	civic
〃	Poorly Differentiated Chordoma	Diagnostic	B	Supports Positive	2	submitted	EID11336 9 of 9 poorly differentiated chordomas tested by IHC exhibited loss of SMARCB1 expression. 7 of 8 tested by FISH showed homozygous deletion of SMARCB1. PMID 29119645 · Owosho et al., 2018 · Open in CIViC	civic
(prognostic)	Poorly Differentiated Chordoma	Prognostic	B	Supports Poor Outcome	2	submitted	EID11337 Seven pediatric patients with poorly differentiated chordomas, associated with loss of SMARCB1, had a median overall survival of 9 months (95% confidence level of 6 to 12 months). PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic
(diagnostic)	Poorly Differentiated Chordoma	Diagnostic	C	Supports Positive	1	submitted	EID11340 2 of 2 poorly differentiated chordomas exhibited 22q loss, including SMARCB1, with no mutations identified. PMID 31135077 · Shih et al., 2019 · Open in CIViC	civic
Tazemetostat	Atypical Teratoid/Rhabdoid Tumor	Predictive	B	Supports Sensitivity Response	3	submitted	EID11180 In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, the overall response in 21 patients with SMARCB1-deficient atypical teratoid rhabdoid tumors (ATRT) w… (full text at CIViC) Open in CIViC	civic
〃	Poorly Differentiated Chordoma	Predictive	C	Supports Sensitivity Response	2	submitted	EID11178 In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, 2 of 6 patients with SMARCB1-deficient poorly differentiated chordoma had a partial response and 1 of… (full text at CIViC) Open in CIViC	civic
〃	Epithelioid Sarcoma	Predictive	C	Supports Sensitivity Response	2	submitted	EID11181 In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, the overall response in 9 patients with SMARCB1-deficient epithelioid sarcoma was 22%, with 1 complet… (full text at CIViC) Open in CIViC	civic
〃	Poorly Differentiated Chordoma	Predictive	C	Supports Sensitivity Response	1	submitted	EID11338 A patient with SMARCB1-deleted poorly differentiated chordoma received the EZH2 inhibitor tazemetostat (800 mg/ twice daily) for 4 weeks as part of a phase II trial followed by radiation at the time o… (full text at CIViC) PMID 30642912 · Gounder et al., 2019 · Open in CIViC	civic

SMARCB1 LOSS OF NUCLEAR PROTEIN EXPRESSION3
(diagnostic)	Cribriform Neuroepithelial Tumor	Diagnostic	C	Supports Positive	4	accepted	EID12332 This study compared cribriform neuroepithelial tumor (CRINET) and atypical teratoid/rhabdoid tumor (AT/RT) to determine whether CRINET is a distinct entity or a variant of AT/RT. The study contained 1… (full text at CIViC) PMID 27380723 · Johann et al., 2017 · Open in CIViC	civic
〃	Cribriform Neuroepithelial Tumor	Diagnostic	C	Supports Positive	3	accepted	EID12327 This is the first case report of cribriform neuroepithelial tumor (CRINET), a rare brain cancer identified in a 26-month-old girl and a 10-month-old boy, affecting the third and fourth ventricles. His… (full text at CIViC) PMID 19915490 · Hasselblatt et al., 2009 · Open in CIViC	civic
〃	Cribriform Neuroepithelial Tumor	Diagnostic	C	Supports Positive	3	accepted	EID12328 This study explored the molecular features of cribriform neuroepithelial tumors (CRINET) using multiplex ligation-dependent probe amplification (MLPA) and molecular inversion profiling (MIP) assays al… (full text at CIViC) PMID 26352987 · Gessi et al., 2015 · Open in CIViC	civic