No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer

Table 1 Breast cancer risk and the ataxia-telangiectasia mutated gene (ATM) T2119C and C3161G variants

	Family history^a		No family history		< 40 years		≥ 40 years		Total
Genotype	Cases	Controls	Cases	Controls	Cases	Controls	Cases	Controls	Cases^b	Controls	Crude OR (95% CI)	P	Adjusted OR (95% CI)^c	P
ATM T2119C
TT	428 (97.5)	158 (98.1)	859 (97.0)	473 (97.1)	677 (97.0)	421 (97.2)	610 (97.3)	210 (97.7)	1287 (97.1) 631 (97.4)		Reference		Reference
TC	11 (2.5)	3 (1.9)	27 (3.0)	14 (2.9)	21 (3.0)	12 (2.8)	17 (2.7)	5 (2.3)	38 (2.9)	17 (2.6)	1.10 (0.61–1.96)	0.8	1.08 (0.59–1.97)	0.8
Total	439	161	886	487	698	433	627	215	1325	648
C allele frequency	0.013	0.009	0.015	0.014	0.015	0.014	0.014	0.012	0.014	0.013
95% CI	0.005–0.020	0.000–0.020	0.010–0.021	0.007–0.022	0.009–0.021	0.006–0.022	0.007–0.020	0.001–0.022	0.010–0.019	0.007–0.019
ATM C3161G
CC	439 (93.6)	175 (95.1)	922 (94.6)	579 (95.9)	722 (94.4)	422 (95.9)	639 (94.1)	332 (95.4)	1361 (94.3) 754 (95.7)		Reference		Reference
CG	30 (6.4)	9 (4.9)	53 (5.4)	25 (4.1)	43 (5.6)	18 (4.1)	40 (5.9)	16 (4.6)	83 (5.7)	34 (4.3)	1.35 (0.90–2.03)	0.1	1.30 (0.85–1.98)	0.2
Total	469	184	975	604	765	440	679	348	1444	788
G allele frequency	0.032	0.024	0.027	0.021	0.028	0.020	0.029	0.023	0.029	0.022
95% CI	0.021–0.043	0.009–0.040	0.020–0.034	0.013–0.029	0.020–0.036	0.011–0.030	0.020–0.038	0.012–0.034	0.023–0.035	0.014–0.029

Data presented as n (%). OR, odds ratio; CI, confidence interval. ^a Family history defined as any reported first-degree or second-degree relative with breast cancer. The 3161 heterozygote genotype was detected in 1/49 (2%) of the subgroup of cases reporting affected sibs. ^b To date, 32 and 34 cases included in the T2119C and C3161G analysis, respectively, have been found to have a deleterious mutation in BRCA1 or BRCA2 by protein-truncation testing in specific exons covering about 70% of the coding regions, and by manual sequencing of BRCA1 in a subset. ^c Adjusted ORs were adjusted for age, country of birth, state, education, marital status, number of live births, height, weight, age at menarche, oral contraceptive use, and for reported family history of breast cancer (first-degree or second-degree relative).

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