Table 3

Genetic risks of breast cancer by gene and study

Gene/polymorphismCase details“Rare” allele frequency in controlsaRisk groupOR95% CIbComments
Steroid hormone metabolism genes
COMT Val158Met
  Lavigne et al. 1997 (39)All cases0.52Val/Methet1.300.69–3.07ORs adjusted for age
Met/Met hom1.450.66–2.58
Pre-men casesVal/Met het0.570.14–2.40
Met/Met hom0.240.04–1.51
Post-men casesVal/Met het1.700.77–3.75
Met/Met hom2.180.93–5.1
  Thompson et al. 1998 (60)Pre-men cases0.43Val/Met het 2.5 1.4–4.6 c ORs adjusted for age and education
Met/Met hom1.70.8–3.4
Met carrier 2.2 1.3–3.7
Post-men cases0.54Val/Met het0.70.4–1.2
Met/Met hom 0.4 0.2–0.8
Met carrier0.60.3–1.0
  Millikan et al. 1998 (51)All cases0.35Val/Met het0.80.5–1.2ORs adjusted for age and reproductive factors
Met/Met hom0.80.4–1.5
CYP17 promoter T → C
  Feigelson et al. 1997 (30)All cases0.41C carrier1.320.87–2.00
Advanced casesC carrier 2.52 1.07–5.94
  Dunning et al. 1998 (29)All cases0.38CC hom1.170.92–1.49
C carrier1.100.89–1.37
Advanced casesC carrier0.880.38–2.01
  Helzlsouer et al. 1998 (35)All cases0.42CC hom0.890.41–1.95
C carrier0.810.45–1.46
Advanced casesCC hom1.390.26–7.28
C carrier1.060.32–3.58
  Weston et al. 1998 (62)All cases0.38CC hom1.160.58–2.32
C carrier1.080.69–1.69
Aggressive diseaseC carrier0.90.4–2.0
CYP19 (TTTA)n
  Healey et al. 1999 (65)0.021(TTTA)12 carrier1.190.68–2.08
  Kristensen et al. 1998 (37)0.016(TTTA)12 carrier 2.42 1.03–5.90
  Siegelmann-Danieli et al. 1999 (55)0.016(TTTA)12 carrier0.290.12–0.69
  Haiman et al. 1999 (32)0.020(TTTA)12 carrier1.760.99–3.14Carrier frequency estimated from published allele frequency
  Healey et al. 1999 (65)0.008(TTTA)10 carrier1.560.59–4.57
  Siegelmann-Danieli et al. 1999 (55)0.018(TTTA)10 carrier1.070.35–3.91
  Haiman et al. 1999 (32)0.005(TTTA)10 carrier 4.84 1.87–14.8 Carrier frequency estimated from published allele frequency
EDH17B2 Ser312Gly
  Mannermaa et al. 1994 (47)Sporadic cases0.47 Ser/Gly 0.620.36–1.07
Gly/Gly 0.850.43–1.70
Gly carrier0.680.40–1.14
Familial cases Ser/Gly 0.440.11–1.62
Gly/Gly 1.020.19–5.49
Gly carrier0.560.15–1.91
ER Xba I RFLP
  Andersen et al. 1994 (22)0.68Hom2.020.96–4.31
Het2.000.92–4.37
Xba I carrier2.010.98–4.17
ER CCC325CCG
  Iwase et al. 1996 (42)0.133G allele carriers 2.91 1.05–8.28 No G homozygotes in controls
  Southey et al. 1998 (58)0.209CG het1.090.79–1.50
GG hom1.590.70–3.63
G allele carrier1.130.77–1.50
PR PROGINS
  Garrett et al. 1995 (31)0.18 T1/T2 1.550.86–2.82
T2/T2 0.400.06–2.49
T2 carrier1.390.79–2.45
  Manolitsas et al. 1997 (48)0.14T2 carrier OR0.770.50–1.18
  Lancaster et al. 1998 (38)0.13T2 carrier OR0.900.38–2.09
Carcinogen metabolism genes
CYP1A1 Ile462Val
  Ambrosone et al. 1995 (20)Post-men cases0.077Ile/Val het1.530.88–2.66
Val/Val hom2.850.49–16.56