DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles

Table 2 The DNA polymerase epsilon exonuclease domain mutations and non-exonuclease domain mutations observed in colorectal cancer patients

POLE mutation	Exon	Nucleotide substitution	Protein change	Mutation type	Clinical significance
Non-EDM	34	c.4337_4338delTG	p.V1446fs*3	Microsatellite (frameshift)	Conflicting classifications of pathogenicity
EDM	14	c.1373A>T	p.Y458F	Nonsense	Pathogenic
EDM	14	c.1402T>A	p.Y468N	Missense	Uncertain significance
Non-EDM	17	c.1834G>A	p.D612N	Missense	Uncertain significance
Non-EDM	42	c.5725C>T	p.R1909	Nonsense	Pathogenic
Non-EDM	15	c.1551delC	p.N518fs*10	Deletion	Pathogenic
Non-EDM	41	c.5653G>A	p.A1885T	Frameshift	Uncertain significance
Non-EDM	29	c.3510dupA	p.L1171fs*6	Duplication	Pathogenic
Non-EDM	39	c.5320C>T	p.Q1774*	Nonsense	Pathogenic
Non-EDM	24	c.2731C>T	p.Q911*	Nonsense	Pathogenic

EDM: Exonuclease domain mutation; POLE: DNA polymerase epsilon.