Table 3

Prevalence of ATM missense substitutions in breast cancer patients and in the general population

MutationNo. of carriersa (%)PbORc (95% CI)
Breast cancer (n = 1000)Controls (n = 500)
S707P28 heterozygotes (0.03)6 heterozygotes (0.01)0.052.4 (1.0–5.6)
F858Ld35 heterozygotes (0.04)13 heterozygotes (0.03)0.351.4 (0.7–2.7)
1 homozygote (≪0.01)
P1054R63 heterozygotes (0.06)24 heterozygotes (0.05)0.241.4 (0.8–2.2)
1 homozygote (≪0.01)
L1420F50 heterozygotes (0.05)17 heterozygotes (0.03)0.161.5 (0.9–2.7)
1 homozygote (≪0.01)
D1853V12 heterozygotes (0.01)4 heterozygotese (0.01)0.971.0 (0.3–3.0)
<0.01f1.6f (1.2–2.2)
D1853N235 heterozygotes (0.24)74 heterozygotese (0.23)0.791.0 (0.8–1.4)
12 homozygotes (0.01)4 homozygotese (0.01)0.971.0 (0.3–3.0)
  • a Carrier frequencies are given as numbers of heterozygotes or homozygotes, respectively, with the corresponding percentages given in parentheses.

  • b P was calculated from the comparison of allele frequencies to account for both heterozygotes and homozygotes.

  • c ORs and 95% CIs are shown for each substitution separately as well as for the whole group of rare missense mutations, excluding the common D1853N polymorphism. Note that the comparison group is not composed of age-matched controls and that the given ratios do not represent the relative risks conferred by each of the substitutions.

  • d F858L is linked with P1054R on the same allele and therefore was excluded from the calculation. None of the carriers tested positive for splicing mutation 3576G→A, an A-T mutation known to reside on a P1054R-F858L haplotype (40) .

  • e Total number of controls tested for codon 1853 variants was 325.

  • f P and OR for cumulative analysis of non-D1853N missense substitutions.