Gene Variant Detail

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Gene SMARCB1
Variant negative
Impact List unknown
Protein Effect loss of function
Gene Variant Descriptions SMARCB1 negative indicates a lack of the SMARCB1 gene, mRNA, and/or protein.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 inact mut SMARCB1 negative

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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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 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 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 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
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 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 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 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 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