|Tumor Type||Primary Site|
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.