Early adenocarcinoma mixed with a neuroendocrine carcinoma component arising in the gastroesophageal junction: A case report

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