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Table 2 The Association of Coding Variants in Candidate Coactivator and Corepressor-related Genes with Breast Cancer Risk.

From: Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort

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

      

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

      

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

      

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

      

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

      

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

      

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

      

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

      

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

      

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

      

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

      

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

      

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)

  1. a Minor allele frequency among controls across populations.
  2. b Adjusted for age and race. OR for gene dosage effects.
  3. c Case-only analysis: ER+ vs ER-, p < 0.01; Localized vs Regional/Metastatic, p < 0.05
  4. d OR can not be calculated because of small numbers of cases or controls.