Table 2

Summary results from Breast Cancer Association Consortium studies of white Europeans (42 671 invasive breast cancer cases and 42 164 controls)

VariantFrequency*
Controls
Frequency*
Cases
OR (95% CI)LRT
p Value
OR† (95% CI)LRT
p Value†
PALB2§
c.1592delT (p.Leu531Cysfs)0.000140.000824.52 (1.90 to 10.8)7.1×10−53.44 (1.39 to 8.52)0.003
 c.2816T>G (p.Leu939Trp)0.003420.003521.05 (0.83 to 1.32)0.701.03 (0.80 to 1.32)0.82
c.3113G>A (p.Trp1038*)0.000190.001015.93 (2.77 to 12.7)6.9×10−84.21 (1.84 to 9.60)1.2×10−4
CHEK2
c.349A>G (p.Arg117Gly)0.000430.001032.26 (1.29 to 3.95)0.0032.03 (1.10 to 3.73)0.020
c.538C>T (p.Arg180Cys)0.003370.003701.33 (1.05 to 1.67)0.0161.34 (1.06 to 1.70)0.015
 c.715G>A (p.Glu239Lys)0.000210.000351.70 (0.73 to 3.93)0.2101.47 (0.60 to 3.64)0.40
 c.1036C>T (p.Arg346Cys)0.000050.000215.06 (1.09 to 23.5)0.0173.39 (0.68 to 16.9)0.11
 c.1312G>T (p.Asp438Tyr)0.000780.000821.03 (0.62 to 1.71)0.9100.87 (0.49 to 1.52)0.62
 c.1343T>G (p.Ile448Ser)‡0.000020
ATM
c.7271T>G (p.Val2424Gly)0.000020.0002811.6 (1.50 to 89.9)0.001211.0 (1.42 to 85.7)0.0019
  • *Proportion of subjects carrying the variant.

  • †Excluding women from five studies that selected all cases based on family history or bilateral disease and the subset of selected cases from other studies (based on 34 488 unselected cases and 34 059 controls).

  • CHEK2 c.1343T>G (p.Ile448Ser) was only observed in one control and no cases of white European origin.

  • §PALB2 c.3113G>A (p.Trp1038*) only observed in the UK, Australia, the USA and Canada. PALB2 c.1592delT (p.Leu531Cysfs) only observed in Finland and Sweden.

  • LRT, likelihood ratio test; OR, OR for carriers of the variant versus common-allele homozygotes, adjusted for study and seven principal components.