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. 2016 Aug 22;7(38):61970–61987. doi: 10.18632/oncotarget.11486

Table 5. Genotype frequencies in the subgroups of osteosarcoma patients eligible for survival (survival cohort) and toxicity (toxicity cohort) analyses.

Main gene function Polymorphism Survival cohort (n = 126 patients) Toxicity cohort (n = 57 patients)
WT (%) HET (%) VAR (%) WT (%) HET (%) VAR (%)
TRANSPORT ABCB1_3435T/C 29 44 27 33 44 23
ABCB1_1236T/C 31 46 23 29 51 20
ABCB1_2677G/T/A 27 46 27 21 49 30
ABCC2_1249A/G 49 48 3 54 44 2
ABCC2_-24A/G 59 37 4 57 39 4
ABCC2_3972A/G 48 35 17 37 41 22
ABCG2_34A/G 85 15 0 91 9 0
ABCG2_421A/C 82 16 2 85 15 0
RFC_80A/G 37 46 17 37 51 12
DNA REPAIR APE1_2197T/G 18 47 35 16 52 32
ERCC1_8092T/G 60 34 6 60 38 2
ERCC1_19007T/C 30 46 24 26 56 18
hMLH1_676A/G 37 51 12 36 51 13
hMSH2_IVS12-6T/C 89 11 0 89 11 0
hOGG1_1245C/G 64 28 8 68 25 7
XPD_35931T/G 38 49 13 37 52 11
XPD_23591A/G 40 47 13 39 52 9
XPG_3508G/C 57 31 12 65 30 5
XRCC1_28152A/G 42 46 12 35 49 16
XRCC3_18067T/C 30 55 15 27 58 15
FOLATE CYCLE DHFR_Ins/Del 38 46 16 30 52 18
FOLR1_181delC 94 6 0 98 2 0
GGH_452T/C 82 15 3 83 12 5
GGH_401T/C 49 35 16 55 29 16
GGH_16T/C 61 24 15 66 19 15
MTHFD1_1958T/C 28 55 17 27 57 16
MTHFR_677T/C 31 52 17 33 51 16
MTHFR_1298A/C 41 49 10 39 50 11
SHMT_1420T/C 53 40 7 50 41 9
TYMS_28bp_VNTR 39 43 18 30 47 23
TYMS_1494del6 33 53 14 30 54 16
APOPTOSIS ATM_40C/G 98 2 0 98 2 0
ATM_61A/G 72 26 2 73 25 2
MDM2_309T/G 30 50 20 28 47 25
p21_98A/C 87 13 0 93 7 0
TP53_PIN3_IVS3 + 16 bp 66 29 5 63 35 2
TP53_IVS2+38G/C 7 35 58 9 34 57
TP53_ex4 + 119G/C 66 27 7 70 21 9
DRUG
METABOLISM
GSTT1_gen_null 83 0 17 88 0 12
GSTM1_gen_null 42 0 58 39 0 61
GSTP1_313A/G 52 42 6 54 44 2
CYP2C19*2_681A/G 75 24 1 72 26 2
CYP2B6*6 65 29 6 68 25 7
CYP2B6*7 99 1 0 100 0 0
CYP2C9*2_430T/C 73 26 1 68 32 0
CYP2C9*3_1075A/C 86 11 3 91 9 0
CYP3A4*1B_-392A/G 90 10 0 89 11 0

WT, wild-type; HET, heterozygous; VAR, variant.