This gene is a known cancer gene.

This gene is a known cancer gene.

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.

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 urothelial carcinomas and are found in about 2% of cases. SMARCB1 A203T is considered a variant of uncertain significance and has not been well classified in the literature. This variant has been reported a somatic mutation in a case of colon adenocarcinoma however this variant has also been reported a germline finding in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/25553173/). These results should be interpreted in the clinicopathologic context.

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.