Gene/Variant | MAF, rangea | All Groups 1,612 cases/1,961 controls | ER+ 1090 cases | ER- 293 cases | Localized 1187 cases | Regional/Metastatic 420 cases |
---|---|---|---|---|---|---|
 |  | OR(95% CI)b | OR(95% CI)b | OR(95% CI)b | OR(95% CI)b | OR(95% CI)b |
EP300 | Â | Â | Â | Â | Â | Â |
Ser507Gly | 0–0.020 | 1.01(0.55–1.85) | 0.73(0.35–1.54)c | 2.61(1.15–5.92)c | 1.01(0.53–1.95) | 1.05(0.39–2.83) |
Ile997Val | 0.023–0.483 | 0.92(0.81–1.04) | 0.86(0.74–0.99) | 1.08(0.86–1.36) | 0.94(0.82–1.08) | 0.87(0.71–1.06) |
Pro1986Leu | 0–0.007 | 0.88(0.21–3.73) | 1.12(0.26–4.78) | -d | 0.67(0.13–3.57) | 1.35(0.16–11.56) |
Gln2223Pro | 0–0.036 | 1.03(0.70–1.52) | 1.02(0.66–1.57) | 0.91(0.43–1.93) | 0.95(0.62–1.47) | 1.31(0.75–2.27) |
CCND1 | Â | Â | Â | Â | Â | Â |
Pro241Pro | 0.244–0.539 | 1.07(0.97–1.18) | 1.12(1.00–1.26) | 1.04(0.86–1.26) | 1.08(0.96–1.20) | 1.06(0.90–1.24) |
NCOA1 | Â | Â | Â | Â | Â | Â |
Pro1272Ser | 0–0.022 | 1.11(0.69–1.78) | 1.04(0.60–1.79) | 1.09(0.46–2.59) | 1.31(0.80–2.14) | 0.62(0.24–1.58) |
NCOA2 | Â | Â | Â | Â | Â | Â |
Ala407Ser | 0–0.005 | 2.25(0.73–6.96) | 2.09(0.55–7.89) | 2.85(0.67–12.13) | 1.23(0.29–5.24) | 4.21(1.19–14.85) |
Asn1212Ser | 0–0.012 | 1.08(0.45–2.56) | 1.27(0.49–3.34) | 1.37(0.37–5.00) | 0.91(0.33–2.50) | 1.56(0.49–4.99) |
Met1282Ile | 0.019–0.142 | 1.06(0.87–1.29) | 1.07(0.86–1.33) | 0.99(0.67–1.46) | 1.10(0.89–1.36) | 0.94(0.67–1.31) |
NCOA3 | Â | Â | Â | Â | Â | Â |
Arg218Cys | 0–0.079 | 0.88(0.68–1.13) | 0.90(0.68–1.21) | 0.84(0.53–1.33) | 0.77(0.58–1.03) | 1.13(0.79–1.62) |
Met391Val | 0–0.016 | 0.93(0.41–2.13) | 1.25(0.49–3.18) | 0.33(0.04–2.54) | 0.93(0.37–2.35) | 0.87(0.24–3.09) |
Pro559Ser | 0–0.037 | 1.13(0.68–1.89) | 1.48(0.84–2.61) | 0.77(0.29–2.03) | 1.35(0.78–2.32) | 0.65(0.25–1.72) |
Gln586His | 0.020–0.086 | 1.00(0.80–1.23) | 0.97(0.77–1.24) | 1.16(0.80–1.69) | 1.07(0.85–1.34) | 0.84(0.58–1.20) |
Ser662Phe | 0–< 0.001 | -d | -d | -d | -d | -d |
FOXA1 | Â | Â | Â | Â | Â | Â |
Ala83Thr | 0.118–0.580 | 0.99(0.89–1.10) | 0.99(0.88–1.12) | 1.07(0.88–1.30) | 0.94(0.83–1.06)c | 1.14(0.96–1.35)c |
Ser448Asn | 0.002–0.057 | 1.09(0.84–1.42) | 1.29(0.97–1.71) | 0.69(0.39–1.22) | 0.99(0.74–1.33)c | 1.39(0.96–2.02)c |
MPG | Â | Â | Â | Â | Â | Â |
Val242Leu | 0–0.002 | 1.62(0.36–7.29) | 2.70(0.59–12.26) | -d | 0.61(0.06–5.95) | 4.32(0.86–21.62) |
NCOR1 | Â | Â | Â | Â | Â | Â |
Val1996/1997del | 0–0.028 | 0.96(0.52–1.77) | 0.93(0.44–1.96) | 1.22(0.50–2.98) | 0.85(0.41–1.74) | 1.24(0.53–2.87) |
NCOR2 | Â | Â | Â | Â | Â | Â |
Thr35Met | 0–0.025 | 0.18(0.02–1.37) | 0.22(0.03–1.72) | -d | -d | 0.71(0.09–5.59) |
His52Arg | 0–0.026 | 1.79(1.05–3.05) | 1.52(0.81–2.86) | 2.09(0.97–4.50) | 1.57(0.84–2.96) | 2.25(1.15–4.38) |
Gly783Glu | 0.001–0.125 | 1.16(0.97–1.39) | 1.19(0.98–1.46) | 1.03(0.74–1.44) | 1.21(0.99–1.46) | 1.05(0.79–1.40) |
Lys980Thr | 0–0.014 | 1.33(0.67–2.67) | 1.16(0.54–2.52) | 3.34(1.17–9.53) | 1.43(0.69–2.98) | 1.16(0.33–4.09) |
Ala995Gly | 0–0.078 | 0.95(0.67–1.36) | 0.98(0.64–1.50) | 1.13(0.66–1.93) | 0.99(0.67–1.47) | 0.83(0.47–1.46) |
Ser1525Thr | 0–0.028 | 0.91(0.51–1.62) | 0.75(0.35–1.59) | 1.48(0.69–3.20) | 0.82(0.42–1.59) | 1.16(0.50–2.66) |
Ala1706Thr | 0.060–0.209 | 0.99(0.86–1.13) | 0.99(0.85–1.15) | 0.99(0.77–1.26) | 0.96(0.83–1.12) | 1.02(0.83–1.26) |
Ala2007Thr | 0.012–0.049 | 1.00(0.78–1.29) | 0.93(0.69–1.25) | 0.97(0.60–1.55) | 1.03(0.78–1.36) | 0.95(0.63–1.44) |
Ala2011Val | 0–0.011 | 1.15(0.48–2.74) | 1.65(0.67–4.06) | 0.58(0.07–4.60) | 0.89(0.30–2.65) | 1.83(0.61–5.49) |
Thr2216Pro | 0–0.022 | 1.04(0.56–1.93) | 1.14(0.57–2.30) | 1.02(0.34–3.03) | 1.14(0.58–2.22) | 0.84(0.28–2.48) |
Ser2311Gly | 0.001–0.060 | 0.93(0.64–1.34) | 0.90(0.60–1.36) | 0.73(0.32–1.67) | 1.08(0.73–1.58)c | 0.48(0.21–1.09)c |
Ala2496Thr | 0–0.062 | 0.96(0.68–1.38) | 1.01(0.69–1.49) | 0.57(0.23–1.41) | 1.12(0.77–1.63)c | 0.46(0.20–1.05)c |
CALCOCO1 | Â | Â | Â | Â | Â | Â |
Arg12His | 0–0.005 | 2.29(1.00–5.26) | 2.83(1.19–6.74) | 0.76(0.09–6.09) | 1.89(0.75–4.75) | 3.19(1.12–9.11) |
Arg393Lys | 0.140–0.365 | 0.93(0.82–1.05) | 0.92(0.80–1.05) | 1.01(0.80–1.26) | 0.90(0.79–1.03) | 0.98(0.80–1.19) |
Ala527Thr | 0–0.014 | 0.92(0.41–2.11) | 0.82(0.29–2.31) | 0.34(0.04–2.62) | 1.21(0.51–2.84) | 0.29(0.04–2.24) |
Gly561Val | 0–0.011 | 1.17(0.57–2.39) | 1.34(0.61–2.93) | 0.81(0.18–3.60) | 1.23(0.56–2.68) | 1.10(0.36–3.32) |
Thr639Pro | 0–0.067 | 0.95(0.64–1.42) | 1.00(0.63–1.60) | 0.64(0.30–1.37) | 0.84(0.53–1.33) | 1.26(0.72–2.20) |
CREBBP | Â | Â | Â | Â | Â | Â |
Pro858Ser | 0–0.006 | 0.67(0.16–2.81) | 0.76(0.15–3.98) | 1.12(0.13–9.77) | 0.63(0.12–3.26) | 0.87(0.10–7.57) |
Thr910Ala | 0–0.002 | 1.11(0.27–4.48) | 1.58(0.39–6.49) | -d | 1.17(0.26–5.34) | 1.11(0.12–10.01) |
Val992Ile | 0–0.036 | 1.14(0.68–1.92) | 0.60(0.28–1.28)c | 2.20(1.10–4.39)c | 1.19(0.67–2.12) | 1.10(0.49–2.45) |
Gly2229Ser | 0–0.011 | 1.69(0.70–4.07) | 1.66(0.61–4.53) | 1.09(0.23–5.15) | 1.58(0.60–4.17) | 1.92(0.58–6.35) |
SMARCA2 | Â | Â | Â | Â | Â | Â |
Asp1546Glu | 0.129–0.242 | 1.07(0.94–1.21) | 1.12(0.98–1.29) | 0.92(0.73–1.16) | 1.07(0.93–1.22) | 1.07(0.88–1.30) |