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.