Table 1.

Variants that have been associated with fluoropyrimidine effects

Gene	Rs#	Common names	Variant	Phenotype	PMIDs
DPYD	rs3918290	DPYD*2A, DPYD:67887533G > A, DPYD:IVS14 +1G>A	A	Toxicity: neurotoxicity, mucositis, leukopenia	10071185 [25]; 18299612 [29]; 17165084 [26]; 15858133 [45]
DPYD	rs1801159	DPYD*5, DPYD:I543V, DPYD:A1627G	G	Toxicity: nausea, vomiting, leukopenia	17848752 [46]
DPYD	rs1801265	DPYD*9A, DPYD:C29R, DPYD:T85C	C	Toxicity: nausea, vomiting	17848752 [46]
DPYD	rs2297595	DPYD:496A >G, DPYD:Met166Val	G	Toxicity	19104657 [47]
DPYS	NA	DPYS:833G > A, DPYS:Gly278Asp		Toxicity	14555507 [7]
ERCC2	rs13181	ERCC2:2251A >C, ERCC2:Lys751Gln	C	Efficacy: early relapse	18267032 [48]
GSTP1	rs1695	GSTP1:Ile105Val	G	Toxicity (chemoradiotherapy)	18540691 [49]
MTHFR	rs1801133	MTHFR:677C>T	T/C	Efficacy: response; survival Toxicity: diarrhea	19465420 [34]; 12738713 [36]
MTHFR	rs1801131	MTHFR:1298A >C	A/C	Efficacy: response; survival	15608557 [50]; 17704422 [51]
TP53	rs1042522	P53:Arg72Pro, TP53Arg72Pro, p53 codon 72	Arg	Efficacy: survival	18357466 [52]
TYMS	rs34743033	28bp tandem repeat, TSER, TYMS:(CCGCGCCACTTGGC CTGCCTCCGTCCCG)2/3/4/7/8/9	TSER*3	Toxicity: neutropenia, diarrhea Efficacy: response; survival	16818689 [53]; 11913730 [54]; 11556832 [55]; 14522928 [56]
TYMS	rs34489327	TYMS:1494del TTAAAG, TYMS:6bp-	Deletion	Efficacy: survival	16575011 [57]; 16141798 [58]
TYMS	NA	TYMS:TSER*3G>C	*3C	Efficacy: survival	15386371 [59]; 19082493 [60]
UMPS	rs1801019	OPRT: Gly213Ala	C	Toxicity: neutropenia, diarrhea	16818689 [53]

DPYD, dihydropyrimidine dehydrogenase; DPYS, dihydropyrimidinease; ERCC2, excision repair cross-complementing group 2; GSTP1, glutathione S-transferase pi 1; MTHFR, methylenetetrahydrofolate reductase; NA, not available; OPRT, orotate phosphoribosyltransferase; PMID, pubMed identifier; TP53, tumor protein p53; TSER, TYMS enhancer region; TYMS, thymidylate synthase; UMPS, uridine monophosphate synthase.