Table 2.

Risk of breast cancer in the case-control study according to genotype

Cases (n)Controls (n)Odds ratio (95% CI)80% power odds ratio*
Age adjustmentMultifactorial adjustment
BRCA1
    Gln356Arg
        Gln-Gln1,0483,5891.01.0
        Gln-Arg1475131.0 (0.8-1.2)1.0 (0.8-1.3)1.3
        Arg-Arg5170.9 (0.3-2.4)0.8 (0.3-2.5)3.2
    Pro871Leu
        Pro-Pro5501,7561.01.0
        Pro-Leu4961,8960.8 (0.7-1.0)0.9 (0.7-1.0)1.2
        Leu-Leu1554671.1 (0.9-1.3)1.0 (0.8-1.3)1.4
    Glu1038Gly
        Glu-Glu5631,8541.01.0
        Glu-Gly4911,8350.9 (0.8-1.0)0.9 (0.8-1.1)1.2
        Gly-Gly1454311.1 (0.9-1.4)1.1 (0.8-1.4)1.4
    Ser1613Gly
        Ser-Ser5571,8501.01.0
        Ser-Gly5081,8340.9 (0.8-1.1)1.0 (0.8-1.1)1.2
        Gly-Gly1334351.0 (0.8-1.3)1.0 (0.7-1.2)1.4
    Met1652Ile
        Met-Met1,1624,0301.01.0
        Met-Ile + Ile-Ile38901.5 (1.0-2.2)1.5 (0.9-2.3)1.8
BRCA2
    Asn289His
        Asn-Asn 1,1233,8781.01.0
        Asn-His + His-His752421.1 (0.8-1.4)1.1 (0.8-1.5)1.5
    Asn372His
        Asn-Asn6042,1291.01.0
        Asn-His5031,6771.1 (0.9-1.2)1.0 (0.9-1.2)1.2
        His-His933131.0 (0.8-1.3)1.0 (0.8-1.3)1.4
    Asp1420Tyr
        Asp-Asp 1,1784,0141.01.0
        Asp-Tyr + Tyr-Tyr221060.7 (0.4-1.1)0.7 (0.4-1.2)1.7
    Tyr1915Met
        Tyr-Tyr1,1433,8441.01.0
        Tyr-Met + Met-Met572760.7 (0.5-0.9)0.7 (0.5-1.0)1.4

NOTE: Multifactorial adjustment included age (<50 y vs ≥50 y), BMI (≤25 kg/m2 vs 25 kg/m2 <BMI ≤30 kg/m2 vs BMI >30 kg/m2), weekly alcohol intake (0 grams/wk vs 1-168 grams/wk vs >168 g/wk), parity (number of children), nulliparity (yes/no), use of oral contraceptive drugs at the time of examination (yes/no), menopausal status (premenopausal/postmenopausal), and use of hormonal replacement therapy at the time of examination (yes/no).

  • *We had 80% power at two-sided P value of <0.05 to exclude the odds ratios given.

  • Homozygotes were pooled with heterozygotes in analyses of polymorphisms with a MAF of <5%.