Table 3.

Risk of developing second primary breast cancer associated with common ATM variants

Variant *EffectdbSNP Cases, n (%)Controls, n (%)Rate ratio (95% CI)
c.378T>Ap.Asp126Glurs22349978 (1.1)17 (1.1)0.7 (0.2–2.0)
c.735C>TSilentrs321867421 (3.0)40 (2.8)1.0 (0.6–1.9)
c.1899-55T>GSilentrs498794334 (4.8)121 (9.5)0.5 (0.3–0.8)
c.2119T>Cp.Ser707Prors498676120 (2.8)30 (3.0)1.0 (0.5–1.9)
c.2572T>Cp.Phe858Leurs180005614 (2.0)42 (2.7)0.5 (0.2–1.0)
c.3161C>Gp.Pro1054Argrs180005723 (3.2)64 (4.7)0.5 (0.3–0.9)
c.3285-10delTSilent8 (1.1)15 (1.1)0.8 (0.3–2.0)
c.4258C>Tp.Leu1420Phers180005824 (3.4)47 (3.4)0.8 (0.4–1.4)
c.4578C>TSilentrs180088952 (7.3)121 (9.0)0.7 (0.5–1.1)
c.5497-8T>CSilentrs309282937 (5.2)69 (4.9)0.9 (0.5–1.4)
c.5557G>Ap.Asp1853Glnrs1801516173 (24.4)339 (24.5)0.9 (0.7–1.1)
c.5558A>Tp.Asp1853Valrs18016734 (0.6)30 (2.6)0.2 (0.1–0.6)
c.5762+27G>ASilentrs32186738 (1.1)22 (1.5)0.6 (0.2–1.6)
c.6348-54T>CSilent3 (0.4)19 (1.5)0.2 (0.1–0.8)
c.8786+8A>CSilent39 (5.5)99 (6.3)0.7 (0.4–1.1)
  • NOTE: Variants carried by >1% of the WECARE Study subjects.

  • * Variants indicated relative to the reference sequence for the ATM Mutation Database (http://chromium.liacs.nl/lovd/refseq/ATM_codingDNA.html). Nomenclature as recommended by the Human Variome Project.

  • rs numbers are provided for those SNPs currently listed in dbSNP.

  • Adjusted for exact age at diagnosis of the first primary, countermatching weight, and for carriers of the other remaining ATM variants so that the rate ratio is relative to those for wild-type for ATM variants.