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SMARCB1
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Interpretation 2350
Tier 2
SMARCB1
Variants
SMARCB1 R377H
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

SMARCB1 is a member of the SWI/SNF chromatin remodeling complex and regulates transcription of several genes involved in cell proliferation. SMARCB1 mutations are rare in colorectal adenocarcinomas and are reported in only about 1% of cases. Although not biochemically assessed, SMARCB1 R377H has been identified as a statistically significant hotspot and is predicted to be oncogenic. The clinicopathologic significance of SMARCB1 variants in colorectal cancer remains to be further elucidated.

Citations
  1. Brastianos PK, et al. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nat Genet 2013;45(3):285-9
  2. TCGA: https://tcga-data.nci.nih.gov/docs/publications/tcga/?
  3. OncoKB: https://oncokb.org/gene/SMARCB1/R377H
  4. Phelan ML. Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits.Mol Cell. 1999 Feb;3(2):247-53.
Last updated: 2019-07-15 15:36:57 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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