Table 5 Composite genotype frequencies for 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
Composite genotype | BC cases (n = 126) | Controls (n = 200) | p value (a) | OR [95%CI] |
|---|---|---|---|---|
IVS24-9delT, IVS38-8T>C | ||||
T/T, T/T | 100 (79.4%) | 174 (87.0%) | 1.000 | 1.00 |
T/(-T), T/T | 15 (11.9%) | 20 (10.0%) | 0.289 | 1.31 [0.63–2.66] |
T/(-T), T/C | 11 (8.7%) | 6 (3.0%) | 0.021 | 3.19 [1.16–8.89] |
IVS38-8T>C, 5557G>A | ||||
T/T, G/G | 100 (79.4%) | 174 (87.0%) | 1.000 | 1.00 |
T/T, G/A | 15 (11.9%) | 20 (10.0%) | 0.289 | 1.31 [0.63–2.66] |
T/C, G/A | 11 (8.7%) | 6 (3.0%) | 0.021 | 3.19 [1.16–8.89] |
IVS24-9delT, 5557G>A | ||||
T/T, G/G | 100 (79.4%) | 174 (87.0%) | 1.000 | 1.00 |
T/(-T), G/A | 26 (20.6%) | 26 (13.0%) | 0.048 | 1.74 [0.96–3.16] |
IVS24-9delT, IVS38-8T>C, 5557G>A | ||||
T/T, T/T, G/G | 100 (79.4%) | 174 (87.0%) | 1.000 | 1.00 |
T/(-T), T/T, G/A | 15 (11.9%) | 20 (10.0%) | 0.289 | 1.31 [0.63–2.66] |
T(/-T), T/C, G/A | 11 (8.7%) | 6 (3.0%) | 0.021 | 3.19 [1.16–8.89] |