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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.