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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