Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

SMARCB1 mutant SMARCB1 inact mut SMARCB1 loss

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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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