Table 3.
Overview of studies reporting CYP2D6 genotypes in correlation with endoxifen concentrations.
| Patients | CYP2D6 Genotype and Phenotype Scoring | Endox Assay | % Endox or Metabolic Ratio (MR) Explained r2, (Adjusted. r2) | Study | |||||
|---|---|---|---|---|---|---|---|---|---|
| n | Race | Exclusion Criteria | CYP2D6 * Alleles | Scoring | Z/Total | Endox | MR | Covariates | Ref |
| 236 | Caucasian | Tam <10% mean | 3, 4, 5, 6, 7, 9, 10, 41, CNV | DT | Sqrt-z | 38.6 | 68 | None | [28] |
| 583 | Mixed | Tam<150 nM, inhibitors | 3, 4, 5, 6, 9, 10, 14, 15, 17, 41, CNV | AS | Log-z | 33–38 | 53 | Age, BMI, non-2D6 genetics | [5] |
| 196 | Caucasian | Unspecified tam cut-off | 3, 4, 5, 9, 10, 41, CNV | DTs | Log-z | 30.1 (46) | - | Age, BMI, genetics, inhibitors, season | [67] |
| 279 | Caucasian | Tam <10% mean | 2, 3, 4, 5, 6, 7, 9, 10, 17, 41, CVN | DTs | Z | 27 | 51 | - | [68] |
| 97 | Caucasian | None | 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 15, 17, 29, 35, 41, CNV | MG # | Total | (26) | (38) | Age, ethnicity | [69] |
| 80 | Caucasian | None | 4, 6, 8 | DTs | Total | 23 | - | None | [3] |
| 1370 | Caucasian | None | CYP450 AmpliChip, CNV | MG | Z | 18 (46) | - | Age, BMI, race, tam conc | [4] |
| 730 | European | Tam<LLQ | 4, 9, 10, 7, 6, 17, 41, CNV | DTs | Z | 16.8 (19.4) | - | Inhibitors, non-2D6 genetics | [70] |
| 178 | Caucasian | Inhibitors, non-adherence | 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 15, 17, 29, 35, 41, CNV | MG # | Z | (16) | - | CYP3A4, demographics | [71] |
| 302 | Caucasian | Inhibitors, non-adherence | CYP450 AmpliChip, CNV | DTs | Log-z | 15.4 (23) | - | Weight, season, CYP2C9 | [72] |
| 224 | Asian | Unspecified tam cut off, inhibitors | 2, 3, 4, 5, 6, 10, 41 | MG | Total | 10 | - | None | [41] |
| 116 | Caucasian | None | 2, 2A, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 14, 17, 29, 35, 41, CNV | AS | Total | - | 29.6 (33.7) | Inhibitors | [73] |
| 83 | Caucasian | Endoxifen < LLQ | 2, 2A, 3, 4, 5, 6, 7, 8, 9, 10, 12, 14, 17, 29, 41, CNV | MG | Z | - | - | None | [40] |
| 202 | Asian | Inhibitors or inducers | 2, 5, 10, CNV | DTs * | Z | - | - | None | [74] |
| 122 | Caucasian | Tam <150 nM | 2, 3, 4, 5, 6, 7, 8, 14, 9, 10, 18, 41, 14B, CNV | MG | Z | None | [75] | ||
| 77 | Caucasian | Inhibitors, non-adherence | 2, 2A, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 17, 41, CNV | AS | Z | - | - | None | [76] |
| 98 | Asian | SSRIs | 5, 10, 21, 41 | DTs | Z | - | - | None | [77] |
| 117 | Caucasian | Inhibitors | CYP450 AmpliChip, CNV | MG | Total | - | - | None | [78] |
| 119 | Mixed | None | 2, 2A, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 17, CNV | AS | Log-z | - | - | Inhibitors | [32] |
| 35 | Mixed | Inhibitors | 2, 3, 4, 9, 10, 17, 29, 35, 41, | AS | Total | - | - | Race, menopausal status | [79] |
| 667 | Caucasian | None | CYP450 AmpliChip, CNV | MG * | Z | - | - | None | [42] |
| 80 | Asian | None | 2, 5, 6, 10, 39, 41, CNV | AS | Total | - | - | Tam conc., BMI, non-2D6 genetics | [80] |
| 59 | Asian | Inhibitors, non-adherence | 10 | DTs | Total | - | - | None | [81] |
| 152 | Caucasian | Unspecified tam cut-off | 2, 3, 4, 5, 6, CNV | MG * | Total | - | - | Age | [65] |
| 120 | Caucasian | None | CYP450 AmpliChip, CNV | DTs/MG | Total | - | - | Inhibitors | [82] |
| 114 | Caucasian | None | 3, 4, 5, 6, 9, 41 | AS/MG | Z | - | - | None | [83] |
| 183 | Asian | Inhibitors | 2, 4, 6, 10, 14, 18, 21, 36, 41, 44, CNV | DT | Z | - | - | None | [46] |
| 42 | Native American | None | 2, 3, 4, 5, 9, 10, 28, 33, 35, 41 | AS/DTs | Total | - | - | Age, site, non-2D6 genetics | [84] |
| 158 | Caucasian | None | CYP450 AmpliChip, CNV | DTs | Total | - | - | Inhibitors | [19] |
# metabolizer groups included EM-Fast and EM-Slow, * metabolizer groups included, hetEM. CYP450 AmpliChip interrogates the following CYP2D6*alleles: *1, *2, *4, *5, *10, *14, *16, *17, *22, *25, *29, *30, *33, *35, *36, *40, *41, *43, *45B, *46, *56B, *59, *64, *65, *73, *74, *84, *85, *86. AS = Activity Score, DT = Diplotypes, MG = Metabolizer Group, LLQ = lower limit of quantification, CNV = Copy Number Variation.