Table 2.
Association between variation in genes involved in tamoxifen metabolism and risk of contralateral breast cancer stratified by tamoxifen treatment status
| Tamoxifen | No Tamoxifen | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
| ||||||||||||
| un-corr | un-corr | |||||||||||
| Gene | SNP | chr | coordinate | alleles | MAF | HWE1 | RR2 | 95% CI | P value | RR2 | 95% CI | P value |
| CYP2B6 | rs2279342 | 19 | 46201967 | A>T | 0.09 | 0.85 | 1.4 | 0.8, 2.3 | 0.23 | 1.2 | 0.9, 1.6 | 0.24 |
| CYP2B6 | rs7250745 | 19 | 46195300 | C>T | 0.26 | 0.39 | 1.0 | 0.7, 1.5 | 0.96 | 1.1 | 0.9, 1.3 | 0.63 |
| CYP2B6 | rs2113103 | 19 | 46220507 | G>A | 0.15 | 0.87 | 0.8 | 0.5, 1.3 | 0.40 | 0.8 | 0.7, 1.1 | 0.16 |
| CYP2B6 | rs2306606 | 19 | 46208022 | C>T | 0.26 | 0.75 | 1.1 | 0.8, 1.6 | 0.54 | 1.0 | 0.8, 1.2 | 0.98 |
| CYP2B6 | rs1808682 | 19 | 46181288 | G>A | 0.23 | 0.48 | 0.9 | 0.6, 1.4 | 0.69 | 0.9 | 0.7, 1.1 | 0.35 |
| CYP2B6 | rs7255904 | 19 | 46220860 | G>A | 0.45 | 0.42 | 1.4 | 1.0, 1.9 | 0.07 | 1.1 | 0.9, 1.3 | 0.59 |
| CYP2C9 | rs1057910 (CYP2C9*3) | 10 | 96731043 | A>C | 0.07 | 0.76 | 1.3 | 0.7, 2.4 | 0.37 | 1.1 | 0.8, 1.6 | 0.54 |
| CYP2C9 | rs1505 | 10 | 96740749 | G>C | 0.36 | 0.24 | 1.2 | 0.9, 1.6 | 0.40 | 0.9 | 0.8, 1.1 | 0.40 |
| CYP2C9 | rs12772884 | 10 | 96690620 | T>A | 0.44 | 0.16 | 0.9 | 0.7, 1.2 | 0.55 | 1.1 | 1.0, 1.4 | 0.15 |
| CYP2C9 | rs9332197 | 10 | 96730898 | T>C | 0.06 | 0.11 | 0.6 | 0.3, 1.1 | 0.10 | 1.1 | 0.7, 1.6 | 0.75 |
| CYP2C19 | NA | 10 | 96522535 | A>C | 0.42 | 0.88 | 1.2 | 0.8, 1.6 | 0.38 | 1.0 | 0.8, 1.2 | 0.96 |
| CYP2C19 | NA | 10 | 96524033 | T>A | 0.07 | 0.73 | 1.4 | 0.8, 2.6 | 0.23 | 1.1 | 0.8, 1.6 | 0.60 |
| CYP2C19 | rs6583954 | 10 | 96524253 | A>G | 0.15 | 0.37 | 1.1 | 0.7, 1.7 | 0.77 | 1.1 | 0.8, 1.4 | 0.64 |
| CYP2C19 | NA | 10 | 96524465 | C>A | 0.07 | 0.73 | 1.4 | 0.8, 2.6 | 0.23 | 1.1 | 0.8, 1.6 | 0.54 |
| CYP2C19 | rs7916649 | 10 | 96524574 | A>G | 0.42 | 0.56 | 1.1 | 0.8, 1.5 | 0.48 | 1.0 | 0.8, 1.2 | 0.99 |
| CYP2C19 | rs17878459 | 10 | 96524912 | C>G | 0.03 | 0.32 | 1.7 | 0.7, 4.6 | 0.27 | 1.4 | 0.8, 2.2 | 0.23 |
| CYP2C19 | NA | 10 | 96525114 | G>A | 0.15 | 0.42 | 1.1 | 0.7, 1.7 | 0.77 | 1.0 | 0.8, 1.3 | 0.76 |
| CYP2C19 | rs4388808 | 10 | 96526046 | G>A | 0.18 | 0.40 | 1.0 | 0.6, 1.5 | 0.86 | 1.3 | 1.0, 1.6 | 0.07 |
| CYP2C19 | NA | 10 | 96526217 | A>T | 0.15 | 0.08 | 1.2 | 0.8, 2.0 | 0.36 | 1.1 | 0.8, 1.4 | 0.67 |
| CYP2C19 | rs7068577 | 10 | 96526698 | A>G | 0.20 | 0.22 | 0.9 | 0.6, 1.3 | 0.55 | 0.9 | 0.7, 1.1 | 0.43 |
| CYP2C19 | rs17878673 | 10 | 96529134 | G>A | 0.07 | 0.97 | 1.4 | 0.8, 2.6 | 0.23 | 1.1 | 0.8, 1.6 | 0.52 |
| CYP2C19 | rs4304697 | 10 | 96530879 | A>G | 0.07 | 0.66 | 1.5 | 0.8, 2.6 | 0.21 | 1.1 | 0.8, 1.6 | 0.51 |
| CYP2C19 | rs7088784 | 10 | 96531363 | G>A | 0.07 | 0.85 | 1.7 | 0.9, 2.9 | 0.09 | 1.2 | 0.8, 1.7 | 0.34 |
| CYP2C19 | rs4244285 (CYP2C19*2) | 10 | 96531606 | A>G | 0.16 | 0.34 | 1.1 | 0.7, 1.7 | 0.76 | 1.1 | 0.8, 1.4 | 0.66 |
| CYP2C19 | rs12571421 | 10 | 96531972 | G>A | 0.16 | 0.19 | 1.1 | 0.7, 1.7 | 0.76 | 1.1 | 0.8, 1.4 | 0.66 |
| CYP2C19 | rs35390752 | 10 | 96533813 | C>A | 0.14 | 0.03 | 1.1 | 0.7, 1.8 | 0.73 | 1.0 | 0.8, 1.3 | 0.78 |
| CYP2C19 | NA | 10 | 96534717 | C>G | 0.20 | 0.23 | 0.9 | 0.6, 1.3 | 0.55 | 0.9 | 0.7, 1.1 | 0.42 |
| CYP2C19 | NA | 10 | 96534805 | G>A | 0.07 | 0.89 | 1.4 | 0.8, 2.5 | 0.27 | 1.1 | 0.8, 1.6 | 0.55 |
| CYP2C19 | NA | 10 | 96534970 | A>G | 0.07 | 0.80 | 1.7 | 0.9, 3.0 | 0.08 | 1.2 | 0.8, 1.7 | 0.36 |
| CYP2C19 | NA | 10 | 96535053 | C>A | 0.04 | 0.86 | 1.2 | 0.6, 2.2 | 0.65 | 1.2 | 0.8, 1.9 | 0.43 |
| CYP2C19 | NA | 10 | 96535465 | A>G | 0.07 | 0.71 | 1.4 | 0.8, 2.5 | 0.30 | 1.1 | 0.8, 1.6 | 0.52 |
| CYP2C19 | NA | 10 | 96535962 | A>G | 0.12 | 0.91 | 1.0 | 0.6, 1.6 | 0.83 | 0.7 | 0.6, 1.0 | 0.04 |
| CYP2C19 | NA | 10 | 96536236 | A>C | 0.07 | 0.71 | 1.4 | 0.8, 2.5 | 0.29 | 1.1 | 0.8, 1.6 | 0.53 |
| CYP2C19 | NA | 10 | 96536687 | C>A | 0.07 | 0.71 | 1.4 | 0.8, 2.5 | 0.29 | 1.1 | 0.8, 1.6 | 0.53 |
| CYP2C19 | rs12767583 | 10 | 96537453 | A>G | 0.16 | 0.34 | 1.1 | 0.7, 1.7 | 0.76 | 1.1 | 0.8, 1.3 | 0.69 |
| CYP2C19 | rs4494250 | 10 | 96553747 | A>G | 0.36 | 0.55 | 0.8 | 0.6, 1.2 | 0.31 | 0.9 | 0.7, 1.0 | 0.10 |
| CYP2C19 | NA | 10 | 96555141 | C>A | 0.07 | 0.81 | 1.7 | 0.9, 2.9 | 0.09 | 1.2 | 0.8, 1.6 | 0.40 |
| CYP2C19 | NA | 10 | 96556602 | A>G | 0.04 | 0.84 | 1.3 | 0.7, 2.4 | 0.50 | 1.2 | 0.8, 1.9 | 0.44 |
| CYP2C19 | NA | 10 | 96556769 | C>A | 0.07 | 0.71 | 1.4 | 0.8, 2.5 | 0.29 | 1.1 | 0.8, 1.6 | 0.51 |
| CYP2C19 | rs12772672 | 10 | 96556879 | G>A | 0.16 | 0.39 | 1.1 | 0.7, 1.7 | 0.77 | 1.1 | 0.8, 1.3 | 0.72 |
| CYP2C19 | rs4641393 | 10 | 96557376 | A>G | 0.16 | 0.35 | 1.1 | 0.7, 1.7 | 0.74 | 1.1 | 0.8, 1.3 | 0.70 |
| CYP2C19 | rs1853205 | 10 | 96565059 | C>G | 0.16 | 0.32 | 1.1 | 0.7, 1.7 | 0.76 | 1.1 | 0.8, 1.3 | 0.69 |
| CYP2C19 | rs1322179 | 10 | 96565232 | A>G | 0.16 | 0.34 | 1.1 | 0.7, 1.7 | 0.76 | 1.1 | 0.8, 1.3 | 0.69 |
| CYP2C19 | NA | 10 | 96565270 | G>A | 0.07 | 0.80 | 1.7 | 0.9, 3.0 | 0.08 | 1.2 | 0.8, 1.6 | 0.41 |
| CYP2C19 | rs10509678 | 10 | 96566180 | G>A | 0.07 | 0.71 | 1.4 | 0.8, 2.5 | 0.29 | 1.1 | 0.8, 1.6 | 0.53 |
| CYP2C19 | rs10786172 | 10 | 96571084 | G>A | 0.36 | 0.57 | 0.9 | 0.6, 1.2 | 0.34 | 0.9 | 0.7, 1.0 | 0.12 |
| CYP2C19 | NA | 10 | 96572904 | A>G | 0.07 | 0.71 | 1.4 | 0.8, 2.5 | 0.29 | 1.1 | 0.8, 1.6 | 0.53 |
| CYP2C19 | NA | 10 | 96587741 | C>A | 0.18 | 0.08 | 0.9 | 0.6, 1.4 | 0.58 | 0.9 | 0.7, 1.1 | 0.33 |
| CYP2C19 | NA | 10 | 96588429 | C>A | 0.19 | 0.59 | 1.0 | 0.6, 1.5 | 0.82 | 1.2 | 1.0, 1.6 | 0.07 |
| CYP2C19 | NA | 10 | 96591784 | G>A | 0.23 | 0.39 | 1.3 | 0.9, 1.8 | 0.19 | 1.1 | 0.9, 1.4 | 0.46 |
| CYP2C19 | NA | 10 | 96591910 | A>G | 0.03 | 0.25 | 0.8 | 0.3, 2.2 | 0.59 | 0.7 | 0.4, 1.2 | 0.19 |
| CYP2C19 | rs28399513 | 10 | 96592388 | A>T | 0.16 | 0.33 | 1.1 | 0.7, 1.7 | 0.75 | 1.1 | 0.8, 1.4 | 0.66 |
| CYP2C19 | NA | 10 | 96593081 | A>T | 0.07 | 0.60 | 1.4 | 0.8, 2.6 | 0.29 | 1.1 | 0.8, 1.6 | 0.46 |
| CYP2C19 | rs11592737 | 10 | 96593404 | G>A | 0.20 | 0.21 | 0.9 | 0.6, 1.3 | 0.46 | 0.9 | 0.7, 1.1 | 0.37 |
| CYP2C19 | NA | 10 | 96593735 | G>A | 0.07 | 0.69 | 1.4 | 0.8, 2.5 | 0.29 | 1.1 | 0.8, 1.6 | 0.50 |
| CYP2C19 | NA | 10 | 96595317 | G>C | 0.42 | 0.49 | 1.1 | 0.8, 1.5 | 0.55 | 1.0 | 0.8, 1.2 | 0.88 |
| CYP2C19 | rs1322181 | 10 | 96599054 | A>G | 0.42 | 0.69 | 1.1 | 0.8, 1.5 | 0.57 | 1.0 | 0.8, 1.2 | 0.96 |
| CYP2C19 | NA | 10 | 96599463 | A>G | 0.04 | 0.83 | 1.2 | 0.6, 2.3 | 0.61 | 1.2 | 0.8, 1.9 | 0.44 |
| CYP2C19 | rs4917623 | 10 | 96599558 | A>G | 0.46 | 0.34 | 1.2 | 0.9, 1.6 | 0.27 | 1.0 | 0.9, 1.2 | 0.75 |
| CYP2C19 | rs17878382 | 10 | 96600621 | G>A | 0.07 | 0.71 | 1.4 | 0.8, 2.5 | 0.29 | 1.1 | 0.8, 1.6 | 0.52 |
| CYP2C19 | NA | 10 | 96601618 | G>A | 0.20 | 0.17 | 0.9 | 0.6, 1.3 | 0.47 | 0.9 | 0.7, 1.1 | 0.29 |
| CYP2C19 | NA | 10 | 96601824 | A>G | 0.42 | 0.43 | 1.1 | 0.8, 1.5 | 0.54 | 1.0 | 0.8, 1.2 | 0.98 |
| CYP2C19 | rs12268020 | 10 | 96602361 | A>G | 0.20 | 0.09 | 0.9 | 0.6, 1.3 | 0.47 | 0.9 | 0.7, 1.1 | 0.38 |
| CYP2C19 | rs35709381 | 10 | 96604715 | A>C | 0.16 | 0.34 | 1.1 | 0.7, 1.7 | 0.76 | 1.1 | 0.8, 1.3 | 0.69 |
| CYP2C19 | NA | 10 | 96608493 | G>A | 0.04 | 0.86 | 1.2 | 0.6, 2.3 | 0.65 | 1.2 | 0.8, 1.9 | 0.44 |
| CYP2C19 | NA | 10 | 96608992 | A>G | 0.07 | 0.68 | 1.4 | 0.8, 2.6 | 0.23 | 1.1 | 0.8, 1.6 | 0.50 |
| CYP2C19 | rs3862009 | 10 | 96609015 | A>G | 0.07 | 0.68 | 1.4 | 0.8, 2.5 | 0.29 | 1.1 | 0.8, 1.6 | 0.50 |
| CYP2C19 | rs733115 | 10 | 96609076 | A>C | 0.07 | 0.71 | 1.4 | 0.8, 2.6 | 0.23 | 1.1 | 0.8, 1.6 | 0.55 |
| CYP2C19 | NA | 10 | 96609221 | A>G | 0.20 | 0.18 | 0.9 | 0.6, 1.3 | 0.51 | 0.9 | 0.7, 1.1 | 0.39 |
| CYP2C19 | NA | 10 | 96610294 | C>A | 0.07 | 0.89 | 1.7 | 0.9, 2.9 | 0.09 | 1.2 | 0.8, 1.7 | 0.33 |
| CYP2C19 | NA | 10 | 96611093 | G>A | 0.17 | 0.86 | 1.1 | 0.7, 1.7 | 0.85 | 1.0 | 0.8, 1.3 | 0.84 |
| CYP2C19 | rs12359148 | 10 | 96612303 | G>A | 0.03 | 0.18 | 1.5 | 0.6, 3.5 | 0.36 | 0.6 | 0.4, 1.1 | 0.10 |
| CYP2D6 | NA | 22 | 40847933 | G>C | 0.44 | 0.59 | 1.1 | 0.8, 1.5 | 0.58 | 1.0 | 0.9, 1.2 | 0.78 |
| CYP2D6 | rs11090076 | 22 | 40844136 | A>G | 0.33 | 0.25 | 0.8 | 0.6, 1.1 | 0.16 | 0.9 | 0.8, 1.1 | 0.46 |
| CYP2D6 | rs28371717 | 22 | 40854254 | C>A | 0.01 | 0.76 | 0.0 | 2.1 | 0.9, 5.0 | 0.08 | ||
| CYP2D6 | rs28371725 (CYP2D6*41) | 22 | 40853749 | G>A | 0.08 | 0.003 | 0.8 | 0.5, 1.5 | 0.50 | 1.1 | 0.8, 1.6 | 0.64 |
| CYP2D6 | rs5751221 | 22 | 40846312 | G>A | 0.23 | 0.61 | 1.2 | 0.8, 1.7 | 0.45 | 1.1 | 0.9, 1.3 | 0.66 |
| CYP2D6 | rs5758589 | 22 | 40848326 | G>A | 0.44 | 0.72 | 1.1 | 0.8, 1.5 | 0.52 | 1.0 | 0.9, 1.2 | 0.72 |
| CYP2D6 | rs6002623 | 22 | 40843707 | G>A | 0.33 | 0.25 | 0.8 | 0.6, 1.1 | 0.16 | 0.9 | 0.8, 1.1 | 0.46 |
| CYP2D6 | rs764481 | 22 | 40848370 | G>A | 0.33 | 0.23 | 0.8 | 0.6, 1.1 | 0.16 | 0.9 | 0.8, 1.1 | 0.46 |
| CYP2D6 | rs3892097 (CYP2D6*4) | 22 | 40854891 | G>A | 0.22 | 0.01 | 1.2 | 0.8, 1.7 | 0.31 | 1.1 | 0.9, 1.3 | 0.63 |
| CYP3A4 | rs2242480 | 7 | 99199402 | C>T | 0.11 | 0.18 | 0.8 | 0.4, 1.3 | 0.32 | 0.9 | 0.7, 1.2 | 0.48 |
| CYP3A4 | rs11773597 | 7 | 99220387 | G>C | 0.07 | 0.54 | 1.2 | 0.7, 2.3 | 0.54 | 1.1 | 0.8, 1.6 | 0.57 |
| CYP3A4 | rs1851426 | 7 | 99220872 | G>A | 0.04 | 0.56 | 0.8 | 0.4, 1.8 | 0.61 | 1.1 | 0.7, 1.7 | 0.78 |
| CYP3A4 | rs2246709 | 7 | 99203655 | A>G | 0.27 | 0.32 | 0.9 | 0.6, 1.3 | 0.58 | 1.0 | 0.8, 1.2 | 0.87 |
| CYP3A4 | rs2404955 | 7 | 99191215 | G>A | 0.1 | 0.02 | 0.8 | 0.5, 1.5 | 0.51 | 0.9 | 0.6, 1.2 | 0.42 |
| CYP3A4 | rs2740574 | 7 | 99220032 | A>G | 0.04 | 0.56 | 0.8 | 0.4, 1.8 | 0.61 | 1.1 | 0.7, 1.7 | 0.78 |
| CYP3A4 | rs3735451 | 7 | 99193911 | A>G | 0.12 | 0.6 | 0.9 | 0.6, 1.5 | 0.72 | 1.0 | 0.7, 1.3 | 0.93 |
| CYP3A5 | rs776746 (CYP3A5*3) | 7 | 99108475 | G>A | 0.07 | 0.13 | 0.8 | 0.4, 1.6 | 0.49 | 0.7 | 0.5, 1.0 | 0.05 |
| CYP3A5 | rs10242455 | 7 | 99078115 | A>G | 0.07 | 0.23 | 0.7 | 0.4, 1.4 | 0.38 | 0.7 | 0.5, 1.0 | 0.04 |
| CYP3A5 | rs1419745 | 7 | 99098028 | A>G | 0.03 | 0.53 | 1.0 | 0.4, 2.7 | 0.98 | 0.5 | 0.3, 0.9 | 0.02 |
| CYP3A5 | rs15524 | 7 | 99083850 | A>G | 0.08 | 0.15 | 0.8 | 0.4, 1.6 | 0.56 | 0.7 | 0.5, 1.0 | 0.04 |
| CYP3A5 | rs17161780 | 7 | 99076077 | G>A | 0.03 | 0.43 | 0.9 | 0.3, 2.7 | 0.89 | 0.5 | 0.3, 0.9 | 0.02 |
| CYP3A5 | rs17161783 | 7 | 99076278 | A>G | 0.03 | 0.43 | 0.9 | 0.3, 2.7 | 0.89 | 0.5 | 0.3, 0.9 | 0.02 |
| CYP3A5 | rs28365067 | 7 | 99110246 | G>A | 0.06 | 0.36 | 0.6 | 0.3, 1.3 | 0.23 | 1.0 | 0.7, 1.5 | 0.94 |
| CYP3A5 | rs28365083 | 7 | 99088172 | C>A | 0.01 | 0.001 | 1.3 | 0.3, 5.0 | 0.75 | 2.0 | 0.9, 4.7 | 0.10 |
| CYP3A5 | rs28365094 | 7 | 99088411 | A>G | 0.1 | 0.97 | 1.8 | 1.1, 3.1 | 0.02 | 1.2 | 0.9, 1.6 | 0.24 |
| CYP3A5 | rs28371764 | 7 | 99115529 | G>A | 0.04 | 0.49 | 0.8 | 0.4, 1.9 | 0.63 | 1.0 | 0.6, 1.6 | 0.87 |
| CYP3A5 | rs4646446 | 7 | 99113019 | G>A | 0.03 | 0.43 | 0.9 | 0.3, 2.7 | 0.89 | 0.5 | 0.3, 0.9 | 0.02 |
| CYP3A5 | rs4646447 | 7 | 99106326 | G>A | 0.03 | 0.43 | 0.9 | 0.3, 2.7 | 0.88 | 0.5 | 0.3, 1.0 | 0.04 |
| CYP3A5 | rs4646450 | 7 | 99104254 | G>A | 0.17 | 0.26 | 0.9 | 0.6, 1.4 | 0.75 | 1.0 | 0.8, 1.2 | 0.75 |
| CYP3A5 | rs4646456 | 7 | 99083211 | A>G | 0.03 | 0.43 | 0.9 | 0.3, 2.7 | 0.88 | 0.5 | 0.3, 0.9 | 0.02 |
| CYP3A5 | rs4646457 | 7 | 99083016 | A>C | 0.08 | 0.24 | 0.8 | 0.4, 1.5 | 0.49 | 0.7 | 0.5, 1.0 | 0.04 |
| CYP3A5 | rs4646458 | 7 | 99082949 | A>C | 0.03 | 0.53 | 1.0 | 0.4, 2.7 | 0.98 | 0.5 | 0.3, 0.9 | 0.02 |
| CYP3A5 | rs6956305 | 7 | 99079246 | A>G | 0.04 | 0.09 | 0.7 | 0.3, 1.7 | 0.42 | 0.9 | 0.6, 1.3 | 0.49 |
| SULT1A1 | rs2411453 | 16 | 28539522 | C>A | 0.38 | 0.45 | 1.1 | 0.8, 1.5 | 0.74 | 0.8 | 0.7, 1.0 | 0.07 |
| SULT1A1 | rs1968752 | 16 | 28539086 | C>A | 0.35 | 0.15 | 1.1 | 0.8, 1.5 | 0.77 | 0.9 | 0.7, 1.0 | 0.11 |
| SULT1A1 | rs2077412 | 16 | 28528812 | G>A | 0.3 | 0.01 | 1.0 | 0.7, 1.4 | 0.85 | 1.0 | 0.9, 1.3 | 0.74 |
| UGT2B15 | rs1377872 | 4 | 69588127 | G>A | 0.13 | 0.83 | 1.2 | 0.8, 1.9 | 0.42 | 1.3 | 1.0, 1.7 | 0.04 |
| UGT2B15 | rs3100 | 4 | 69547273 | A>G | 0.36 | 0.66 | 0.7 | 0.5, 0.9 | 0.02 | 0.9 | 0.7, 1.0 | 0.09 |
| UGT2B15 | rs4148271 | 4 | 69547255 | T>A | 0.02 | 0.57 | 0.8 | 0.2, 2.9 | 0.76 | 1.5 | 0.7, 3.4 | 0.29 |
| UGT2B15 | rs7696472 | 4 | 69572785 | G>A | 0.46 | 0.31 | 1.0 | 0.8, 1.4 | 0.82 | 1.1 | 0.9, 1.3 | 0.38 |
Abbreviations: SNP=single nucleotide polymorphism; CHR=chromosome; MAF=minor allele frequency; HWE=Hardy-Weinberg equilibrium; RR=relative risk; 95% CI=95% confidence interval; NA=Not applicable.
1
HWE in UBC controls, p<0.001.
2
Per allele RR (log-additive model) adjusting for age at diagnosis and the counter-matching offset term.