Table 1.
ERCC6 and ERCC8 single nucleotide polymorphisms (SNPs) significantly associated with breast cancer in at least one breast cancer genome-wide association study (GWAS) dataset used as secondary data in our study.
| SNP | Alleles | Odds ratio (OR), 95% confidence interval (CI), p-value | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| CGEMSa | NSABPb | WHIc | BPC3d | |||||||
| Case (N = 1089) | Control (N = 1093) | Case (N = 430) | Control (N = 822) | Case (N = 465) | Control (N = 1394) | Case (N = 977) | Control (N = 1026) | |||
| rs3750751 | 0 | GG | 1.00 | 1.00 | 1.00 | 1.00 | ||||
| 1 | GA | 0.99 (0.79–1.25), 0.96 | 0.63 (0.45–0.88), 0.01 | NA | 1.35 (1.01–1.80), 0.04 | |||||
| 2 | AA | 2.91 (1.05–8.06), 0.04 | 2.53 (0.59–10.97), 0.21 | NA | 2.90 (0.52–16.07), 0.22 | |||||
| Trend | 1.10 (0.89–1.35), 0.37 | 0.74 (0.54–1.00), 0.05 | NA | 1.38 (1.05–1.81), 0.02 | ||||||
| rs2229760 | 0 | GG | 1.00 | 1.00 | 1.00 | 1.00 | ||||
| 1 | GA | 1.08 (0.89–1.31), 0.43 | 1.40 (1.08–1.83), 0.01 | NA | 0.88 (0.70–1.09), 0.24 | |||||
| 2 | AA | 1.03 (0.80–1.33), 0.80 | 1.28 (0.90–1.81), 0.16 | NA | 1.15 (0.84–1.56), 0.39 | |||||
| Trend | 1.03 (0.91–1.16), 0.68 | 1.17 (0.99–1.38), 0.07 | NA | 1.02 (0.88–1.19), 0.76 | ||||||
| rs3750749 | 0 | TT | 1.00 | 1.00 | 1.00 | 1.00 | ||||
| 1 | TC | 1.40 (1.07–1.82), 0.01 | 1.00 (0.69–1.46), 1.00 | NA | 0.86 (0.64–1.15), 0.31 | |||||
| 2 | CC | 1.06 (0.21–5.28), 0.94 | 0.40 (0.05–3.43), 0.40 | NA | 0.20 (0.02–1.73), 0.14 | |||||
| Trend | 1.36 (1.05–1.75), 0.02 | 0.94 (0.66–1.34), 0.74 | NA | 0.81 (0.61–1.07), 0.14 | ||||||
| rs4253082 | 0 | GG | 1.00 | 1.00 | 1.00 | 1.00 | ||||
| 1 | GA | 1.32 (1.09–1.61), 0.005 | 1.04 (0.80–1.34), 0.79 | 1.27 (0.99–1.64), 0.06 | 1.24 (0.64–2.38), 0.52 | |||||
| 2 | AA | 0.79 (0.44–1.41), 0.43 | 0.81 (0.34–1.93), 0.64 | 0.98 (0.45–2.11), 0.96 | 1.27 (0.67–2.40), 0.46 | |||||
| Trend | 1.17 (0.99–1.39), 0.06 | 0.91 (0.71–1.16), 0.44 | NA | 1.05 (0.87–1.28), 0.59 | ||||||
| rs2228528 | 0 | GG | 1.00 | 1.00 | 1.00 | 1.00 | ||||
| 1 | GA | NA | 1.04 (0.80–1.35), 0.77 | 1.29 (1.01–1.66), 0.04 | 0.99 (0.79–1.24), 0.91 | |||||
| 2 | AA | NA | 0.82 (0.35–1.93), 0.64 | 1.02 (0.47–2.21), 0.95 | 0.82 (0.43–1.56), 0.55 | |||||
| Trend | NA | 1.00 (0.80–1.26), 0.98 | NA | 0.96 (0.79–1.16), 0.69 | ||||||
| rs1012553 | 0 | TT | 1.00 | 1.00 | 1 | 1.00 | ||||
| 1 | TA | NA | NA | 1.35 (1.07–1.71), 0.01 | NA | |||||
| 2 | AA | NA | NA | 1.13 (0.69–1.84), 0.63 | NA | |||||
| Trend | NA | NA | 1.20 (1.00–1.44), 0.05 | NA | ||||||
NA Not analyzed due to missing SNPs or subjects (i.e., cells containing 0 subjects).
aCancer Genetic Markers of Susceptibility10,11: Our analysis of raw data involved Caucasian women ≥ 55 years of age using unconditional logistic regression adjusting for family history of breast cancer.
bNational Surgical Adjuvant Breast and Bowel Project (NSABP) Prevention Trials (P-114 and P-213): Our analysis of raw data involved Caucasian women ≥ 50 years of age using conditional logistic regression maintaining matching criteria set by the original study investigators (i.e., age at trial entry, time in the study, history of lobular carcinoma in situ, and 5-year predicted breast cancer risk based on the Gail model).
cWomen's Health Initiative (WHI)15,16 Hormone Therapy Trials data was used to create a nested case–control dataset of women diagnosed with invasive breast cancer ≥ 50 years of age (N = 465) and healthy controls (N = 1394) frequency-matched to the cases based on age in 3:1 control to case ratio: Our analysis of raw data involved Caucasian women ≥ 50 years of age using unconditional logistic regression adjusting for family history of breast cancer, parity, oral contraceptive use, breast feeding and body mass index.
dBreast and Prostate Cancer Cohort Consortium (BPC3)17,18: Our analysis of raw data involved Caucasian women ≥ 50 years of age using unconditional logistic regression adjusting for family history of breast cancer.