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. 2020 Aug 17;8:32. doi: 10.1186/s40364-020-00213-4

Table 1.

Summary of the most common enzymes/transport systems, the genes that code for them, metabolised drugs and expected therapy outcomes

Enzyme/ Transporter Gene Variant alleles Drug molecule Effect Neoplasm Reference
Dihydropyramidine dehydrogenase DPYD DYPD*13, DPYD*8, DPYD*7, DPYD*12, DPYD*3, DYPD*4, DPYD*2A, DPYD*9A Fluoropyramidines – 5-fluorouracil, capecitabine, tegafur Efficacy/Resistance/Toxicity colorectal carcinoma, breast cancer [4]
head-neck cancer [5]
Thymidylate synthetase TYMS TSER*2, TSER*3 5-fluorouracil, capecitabine Efficacy/Toxicity colorectal, bladder, gastric carcinoma [4]
Methylene tetrahydrofolate reductase MTHFR 667 C > T, 1298A > C, 5-fluorouracil, methotrexate Efficacy/Toxicity colorectal carcinoma, ovarian cancer, gastric cancer [4]
Thiopurine S-methyltransferase TPMT TPMT*2–24 (TPMT*1, TPMT*2, TPMT*3A, TPMT*3B, TPMT*3C, TPMT*4) azathioprine, mercaptopirune, thioguanine Dosage/Toxicity/ADR acute lymphatic leukemia [4]
ovarian cancer [6]
breast cancer [7]
Uridine diphosphate glucuronosyl transferase UGT1A1 UGT1A1*27, UGT1A1*28, UGT1A1*6 irinotecan Toxicity/ADR colorectal carcinoma [4]
Glutathione S-transferases GST GSTM1, GSTP1 platinum compounds - cyclofosfamide, carboplatin, doxorubicin, cisplatin, oxaliplatin Efficacy/Toxicity/ADR colorectal cancer [5]
bladder, head and neck, lung, ovarian and testicular cancer [7]
Excision repair cross complementing group 1 ERCC1 496 C > T, 8092 C > A, 19007 T > C platinum containing anti-cancer drugs Efficacy/Toxicity non-small cell lung carcinoma, bladder cancer [4]
colorectal carcinoma [8]
Excision repair cross complementing group 2 ERCC2 965 G > A, 225 A > C platinum containing anticancer drugs - oxaliplatin Efficacy/Toxicity colorectal cancer [4, 8]
ovarian cancer [9]
non-small cell lung carcinoma [10]
ATP binding cassettes ABCB1, ABCC2, ABCG2 1236 C > T, 3435 C > T, 2677 G > T, 421 C > A, ABCC2*2 irinotecan Efficacy/Toxicity/Resistance ovarian cancer [10]
X-ray cross complementing group 1 XRCC1 1301 G > A platinum anti-cancer drugs, 5-fluorouracil Efficacy/Toxicity colorectal, gastric and non-small cell lung carcinoma [4]
Cytochrome P450 2D6 CYP2D6 about 80 CYP2D6 variant alleles; most common ones - CYP2D6*4, CYP2D6*3, CYP2D6*5 and CYP2D6*6 tamoxifen Efficacy/Toxicity breast cancer [4]