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Gene Symbol SMARCB1
Synonyms BAF47 | CSS3 | hSNFS | INI-1 | INI1 | MRD15 | PPP1R144 | RDT | RTPS1 | Sfh1p | SNF5 | SNF5L1 | Snr1 | SWNTS1
Gene Description SMARCB1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, is a member of the SWI/SNF chromatin remodeling complex and regulates transcription of several genes involved in cell proliferation (PMID: 23095836, PMID: 28109176). Smarcb1 inactivation through loss is characteristic of atypical teratoid/rhabdoid tumors (PMID: 23095836), schwannomas (PMID: 28368924, PMID: 28824165), sinonasal carcinomas (PMID: 29797680), and colon carcinoma (PMID: 32083567).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
6598 22 22q11 NM_003073 Tumor suppressor (PMID: 30606230)

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
SMARCB1 negative rhabdoid cancer sensitive Alvocidib Preclinical - Cell line xenograft Actionable In a preclinical study, Alvocidib (flavopiridol) induced cell-cycle arrest and inhibited growth of human rhabdoid tumor cell lines with SMARCB1 biallelic deficiency in culture and inhibted tumor growth in SMARCB1-deficient cell line xenograft models (PMID: 18223228). 18223228
SMARCB1 negative rhabdoid cancer sensitive Palbociclib Preclinical Actionable In a preclinical study, Ibrance (palbociclib) inhibited growth of SMARCB1-negative malignant rhabdoid tumor cell lines in culture, and sensitivity was associated with low levels of p16 expression (PMID: 21871868). 21871868
SMARCB1 negative atypical teratoid rhabdoid tumor predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) was well-tolerated and demonstrated anti-tumor activity in pediatric patients with SMARCB1 (INI)-deficient tumors, including complete or partial responses in patients with epithelioid sarcoma (n=1), chordoma (n=2), and atypical teratoid rhaboid tumor (n=1) (AACR-NCI-EORTC Int Conference on Molecular Targets and Cancer Therapeutics 2017, A175; NCT02601937). detail...
SMARCB1 negative chordoma predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) was well-tolerated and demonstrated anti-tumor activity in pediatric patients with SMARCB1 (INI)-deficient tumors, including complete or partial responses in patients with epithelioid sarcoma (n=1), chordoma (n=2), and atypical teratoid rhaboid tumor (n=1) (AACR-NCI-EORTC Int Conference on Molecular Targets and Cancer Therapeutics 2017, A175; NCT02601937). detail...
SMARCB1 negative rhabdoid cancer predicted - sensitive Tazemetostat Case Reports/Case Series Actionable In a Phase I trial, Tazemetostat (EPZ-6438) demonstrated safety and preliminary efficacy, resulted in a durable complete response lasting over 2.3 years in a patient with SMARCB1-negative malignant rhabdoid tumor (PMID: 29650362; NCT01897571). 29650362
SMARCB1 negative epithelioid sarcoma predicted - sensitive Tazemetostat Case Reports/Case Series Actionable In a Phase I trial, Tazemetostat (EPZ-6438) demonstrated safety and preliminary efficacy, resulted durable stable disease in 2 patients with SMARCB1-negative epithelioid sarcoma (PMID: 29650362; NCT01897571). 29650362
SMARCB1 negative epithelioid sarcoma predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) was well-tolerated and demonstrated anti-tumor activity in pediatric patients with SMARCB1 (INI)-deficient tumors, including complete or partial responses in patients with epithelioid sarcoma (n=1), chordoma (n=2), and atypical teratoid rhaboid tumor (n=1) (AACR-NCI-EORTC Int Conference on Molecular Targets and Cancer Therapeutics 2017, A175; NCT02601937). detail...
SMARCB1 negative epithelioid sarcoma predicted - sensitive Tazemetostat Phase II Actionable In a Phase II trial, Tazverik (tazemetostat) treatment resulted in an objective response rate of 15% (9/62) and a disease control rate of 26% (16/62) in patients with locally advanced or metastatic SMARCB1 (INI1)-negative epithelioid sarcoma, with a median duration of response not reached and a median overall survival of 82.4 weeks (J Clin Oncol 37, no. 15_suppl (May 20, 2019) 11003-11003, NCT02601950). detail...
SMARCB1 negative Advanced Solid Tumor predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) demonstrated safety and preliminary efficacy, resulted in clinical benefit (stable disease or better) in 38% (5/13) of patients with SMARCB1 or SMARCA4-negative advanced solid tumors (PMID: 29650362; NCT01897571). 29650362
SMARCB1 negative atypical teratoid rhabdoid tumor sensitive DZNeP Preclinical Actionable In a preclinical study, DZNep induced apoptosis and cell-cycle arrest and inhibited growth of SMARCB1-negative atypical teratoid rhabdoid tumor cell lines in culture (PMID: 23190500). 23190500
SMARCB1 negative rhabdoid cancer sensitive Fenretinide + Vorinostat Preclinical Actionable In a preclinical study, the combination of Zolinza (vorinostat) and fenretinide induced apoptosis and inhibited growth of rhabdoid tumor cell lines in culture (PMID: 23764045). 23764045
SMARCB1 negative atypical teratoid rhabdoid tumor sensitive DZNeP + Radiotherapy Preclinical Actionable In a preclinical study, DZNep increased radiosensitivity in SMARCB1-negative atypical teratoid rhabdoid tumor cell lines in culture (PMID: 23190500). 23190500
CDKN2A over exp SMARCB1 neg rhabdoid cancer decreased response Palbociclib Preclinical Actionable In a preclinical study, CDKN2A (p16) over expression was associated with decreased sensitivity to Ibrance (palbociclib) in a SMARCB1-negative malignant rhabdoid tumor cell line in culture (PMID: 21871868). 21871868
SMARCB1 loss rhabdoid cancer sensitive Barasertib Preclinical - Cell culture Actionable In a preclinical study, Barasertib (AZD1152) inhibited viability of SMARCB1-deficient rhabdoid cancer cell lines in culture (PMID: 38315003). 38315003
SMARCB1 loss epithelioid sarcoma sensitive Barasertib Preclinical - Cell culture Actionable In a preclinical study, Barasertib (AZD1152) inhibited viability of SMARCB1-deficient epithelioid sarcoma cell lines in culture (PMID: 38315003). 38315003
SMARCB1 loss rhabdoid cancer sensitive Tazemetostat Preclinical - Cell line xenograft Actionable In a preclinical study, Tazemetostat (EPZ-6438) inhibited growth of SMARCB1-deficient malignant rhabdoid tumor cell lines in culture, and inhibited H3K27 trimethylation and induced tumor regression in a SMARCB1-deleted human malignant rhabdoid tumor cell line xenograft model (PMID: 23620515). 23620515
SMARCB1 loss nasal cavity carcinoma predicted - sensitive Tazemetostat Case Reports/Case Series Actionable In a clinical study, Tazverik (tazemetostat) resulted in a clinical benefit in two patients with loss of SMARCB1, including one patient with sinonasal carcinoma and the other patient with sinonasal undifferentiated carcinoma, with stable disease lasting 13 and 8 months, respectively (PMID: 35820243). 35820243
SMARCB1 loss atypical teratoid rhabdoid tumor sensitive CFI-400945 Preclinical - Cell culture Actionable In a preclinical study, CFI-400945 inhibited proliferation and decreased survival and migration of SMARCB1-deficient atypical teratoid rhabdoid tumor cells in culture (PMID: 28398638). 28398638
RB1 del SMARCB1 loss rhabdoid cancer sensitive Alisertib Preclinical - Cell culture Actionable In a preclinical study, Alisertib (MLN8237) inhibited viability of a SMARCB1-deficient rhabdoid cancer cell line with a deletion of RB1 in culture (PMID: 38315003). 38315003
RB1 del SMARCB1 loss rhabdoid cancer sensitive Barasertib Preclinical - Cell culture Actionable In a preclinical study, Barasertib (AZD1152) inhibited viability of a SMARCB1-deficient rhabdoid cancer cell line with a deletion of RB1 in culture (PMID: 38315003). 38315003
RB1 del SMARCB1 loss rhabdoid cancer sensitive Seliciclib Preclinical - Cell culture Actionable In a preclinical study, Roscovotine (seliciclib) inhibited viability of a SMARCB1-deficient rhabdoid cancer cell line with a deletion of RB1 in culture (PMID: 38315003). 38315003
RB1 del SMARCB1 loss rhabdoid cancer resistant Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, a SMARCB1-deficient rhabdoid cancer cell line with a deletion of RB1 was resistant to Tazverik (tazemetostat) in culture (PMID: 38315003). 38315003
RB1 I124Rfs*6 RB1 del SMARCB1 loss epithelioid sarcoma predicted - resistant Tazemetostat Case Reports/Case Series Actionable In a clinical case study, a patient with SMARCB1-deficient epithelioid sarcoma progressed on treatment with Tazverik (tazemetostat) and was found to have acquired a hemizygous deletion of RB1 and RB1 I124Rfs*6 (PMID: 38315003). 38315003
SMARCB1 del epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 deletion aids the diagnosis of epithelioid sarcoma (NCCN.org). detail...
SMARCB1 inact mut rhabdoid cancer not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of extrarenal rhabdoid tumor (NCCN.org). detail...
SMARCB1 inact mut epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of epithelioid sarcoma (NCCN.org). detail...
SMARCB1 inact mut melanoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCB1, did not correlate with improved survival in 2 separate cohorts of patients with melanoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.70 (p=0.192, n=86) and 1.02 (p=0.939, n=192), respectively (PMID: 32321774). 32321774
SMARCB1 inact mut transitional cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCB1, did not correlate with improved survival in 2 separate cohorts of patients with transitional cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.44 (p=0.34, n=56) and 0.82 (p=0.559, n=93), respectively (PMID: 32321774). 32321774
SMARCB1 inact mut head and neck squamous cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCB1, did not correlate with improved survival in 2 separate cohorts of patients with head and neck squamous cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.74 (p=0.631, n=31) and 0.76 (p=0.622, n=68), respectively (PMID: 32321774). 32321774
SMARCB1 inact mut colorectal adenocarcinoma unknown unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including ARID1A, correlated with improved survival in one cohort of patients with colorectal adenocarcinoma treated with systemic immune checkpoint inhibitors but not the other, with adjusted HRs for overall survival of 0.30 (p=0.03, n=35) and 0.56 (p=0.244, n=63), respectively (PMID: 32321774). 32321774
SMARCB1 inact mut gastroesophageal adenocarcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCB1, did not correlate with improved survival in 2 separate cohorts of patients with gastroesophageal adenocarcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.70 (p=0.403, n=66) and 0.46 (p=0.071, n=59), respectively (PMID: 32321774). 32321774