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Table 4 Genotype and allele frequencies of IVS24-9delT, IVS38-8T>C and 5557G>A ATM variants in BRCA1/2 negative breast cancer cases and controls.

From: Association of common ATMvariants with familial breast cancer in a South American population

ATMvariant BC cases (%) (n = 126) Controls (%) (n = 200) p value (a) OR [95%CI]
IVS24-9delT     
T/T 100 (79.4%) 174 (87.0%) 1.000 1.00
T/(-T) 26 (20.6%) 26 (13.0%) 0.048 1.74 [0.96–3.16]
(-T)/(-T) 0 (0%) 0 (0%) - -
T allele 226 (0.90) 374 (0.94) 1.00 1.00
(-T) allele 26 (0.10) 26 (0.06) 0.056 1.67 [0.94–2.92]
IVS38-8T>C     
T/T 115 (91.3%) 194 (97.0%) 1.000 1.00
T/C 11 (8.7%) 6 (3.0%) 0.024 3.09 [1.11–8.59]
C/C 0 (0%) 0 (0%) - -
T allele 241 (0.95) 394 (0.99) 1.000 1.00
C allele 11 (0.05) 6 (0.01) 0.025 3.00 [1.09–8.21]
5557G>A     
G/G 100 (79.4%) 174 (87.0%) 1.000 1.00
G/A 26 (20.6%) 26 (13.0%) 0.048 1.74 [0.96–3.16]
A/A 0 (0%) 0 (0%) - -
G allele 226 (0.90) 374 (0.94) 1.000 1.00
A allele 26 (0.10) 26 (0.06) 0.056 1.67 [0.94–2.92]
  1. BC: breast cancer.
  2. (a) Fisher exact test.