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SMARCB1
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Interpretation 2251
Tier 3
SMARCB1
Variants
SMARCB1 R374Q
Primary Sites
Rectum
Colon
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 R374Q does not lie within any known functional domains of the SMARCB1 protein. R374Q has been identified in sequencing studies, but has not been biochemically characterized and therefore, its effect on protein function is unknown. SMARCB1 mutations are rare in colorectal adenocarcinomas and are reported in only about 1% of cases. The clinicopathologic significance of SMARCB1 variants in colorectal cancer remains to be further elucidated.

Citations
  1. Uniprot.org
  2. Brastianos PK, et al. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nat Genet 2013;45(3):285-9
  3. Shih J, et al. Cancer Signature Investigation: ERBB2 (HER2)-Activating Mutation and Amplification-Positive Breast Carcinoma Mimicking Lung Primary. J Natl Compr Canc Netw 2015;13(8):947-52
  4. https://tcga-data.nci.nih.gov/docs/publications/tcga/?
Last updated: 2018-05-24 20:11:27 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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