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. 2024 Feb 15;16(2):563–570. doi: 10.4251/wjgo.v16.i2.563

Table 1.

Mutations found in early adenocarcinoma mixed with a neuroendocrine carcinoma component by next-generation sequencing analysis

Gene name
Mutation type
Reference allele
Observed allele
cDNA changed
Amino acid change
Variant type
Exon
Clinical significance
Allele frequency (%)
ERCC3 Germline T C c.2333A>G p.K778R Missense 15 Uncertain significance 50.56
RNF43 Germline C T c.434G>A p.R145Q Missense 4 Likely benign 44.79
TP53 Somatic C T c.853G>A p.E285K Missense 8 Pathogenic/likely pathogenic 10.43
ERCC3 Somatic G A c.377C>T p.A126V Missense 3 Uncertain significance 2.24
FANCD2 Somatic G A c.4297G>A p.E1433K Missense 44 Uncertain significance 1.42
CHEK2 Somatic G A c.538C>T p.R180* Stop gained 4 Pathogenic 1.38
PALB2 Somatic C T c.2986G>A p.E996K Missense 9 Uncertain significance 1.33
ROS1 Somatic C T c.4252G>A p.V1418I Missense 26 Uncertain significance 1.30
PIK3CA Somatic G A c.436G>A p.V146I Missense 2 Uncertain significance 1.24
RAD51B Somatic G A c.140G>A p.R47Q Missense 3 Uncertain significance 1.16
PTEN Somatic G A c.698G>A p.R233Q Missense 7 Uncertain significance 1.12
BRCA2 Somatic C A c.2557C>A p.Q853K Missense 11 Likely benign 1.06