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Table 1 Next-generation sequencing analysis

From: Undifferentiated colonic neoplasm with SMARCA4 germline gene mutation and loss of SMARCA4 protein expression: a case report and literature review

Gene/Biomarker Alteration (frequency)
SMARCA4 Germline mutation p.R1093*
APC Somatic mutation p.R216*(31.46%)
JUN Somatic mutation p.K311Sfs*6 (20.77%) & pN85Pfs*21 15.93%)
NRAS Wild-type
KRAS Wild-type
BRAF Wild-type
PD-L1 Negative expression
TNM 1.68Muts/Mb
MSA MSS
HLA-I Heterozygous type
  1. TNM tumor mutation burden, MSA microsatellite analysis, MSS microsatellite stability