Genes

Variations

Mutant types

Ways of mutation

Possible functions

EP300

p.M153V

c.457A > G(p.M153V)

Missense mutation in exon 2 (33% in MF*)

Possible tumor driving genes

DPYD

p.I153V

c.1627A > G(p.I153V)

Heterozygous polymorphism

Side effects may increase for drugs of 5-FU, capecitabine, etc.

ERCC1

p.N118N

c.354T > C(p.N118=)

Heterozygous polymorphism

The curative effect by using drugs of platinum may be better than that of the wild type.

NQO1

p.P187S

c.559C > T(p.P187S)

Heterozygous polymorphism

The curative effect by using mitomycin C may be worse than that of the wild type.

TPMT

p.Y240C

c.719A > G(p.Y240C)

Heterozygous polymorphism

Toxic side effects by using mercaptopurine may increase

XRCC1

p.Q399R

c.1196A > G(p.Q399R)

Heterozygous polymorphism

The curative effect by using drugs of platinum may be better than that of the wild type.