Comprehensive analysis of the ATM, CHEK2 and ERBB2genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study

Table 3 tagSNP haplotypes in the ATM, CHEK2 and ERBB2 genes in relation to breast cancer survival

Haplotype no.	Haplotypes	Haplotype proportions (cases)	HR (95% CI)
ATM		n = 1,574 ^a
1	AACGCCT	0.414	1.00 (Reference)
2	AACGCTC	0.231	0.85 (0.65–1.13)
3	AGCACCC	0.150	0.89 (0.66–1.21)
4	AACGCCC	0.062	0.86 (0.52–1.44)
5	TACGCCT	0.064	0.88 (0.55–1.40)
6	AACGGTC	0.043	0.95 (0.57–1.57)
	Rare^b	0.037	0.95 (0.53–1.68)
Global P value^c			0.95
CHEK2		n = 1,571 ^a
1	GCCCCC	0.223	1.00 (Reference)
2	GGCTGC	0.231	0.72 (0.52–0.98)
3	GCCCCG	0.140	1.02 (0.72–1.43)
4	ACCCGC	0.113	1.00 (0.70–1.41)
5	GCTCGG	0.089	1.08 (0.73–1.57)
6	GGCCGC	0.052	0.61 (0.34–1.10)
7	GCCCGC	0.027	0.60 (0.26–1.41)
	Rare^d	0.125	0.95 (0.67–1.35)
Global P value^c			0.15
ERBB2		n = 1,579 ^a
1	GGCGACT	0.296	1.00 (Reference)
2	AGTAACG	0.166	0.98 (0.71–1.34)
3	GGCGGCG	0.135	1.01 (0.73–1.40)
4	GACGACG	0.116	0.98 (0.69–1.39)
5	AGTAGCG	0.075	1.21 (0.81–1.81)
6	AGCAACG	0.068	1.16 (0.76–1.77)
7	GGCGACG	0.079	1.06 (0.69–1.63)
8	GGCGGTG	0.048	0.81 (0.47–1.39)
	Rare^e	0.018	2.21 (1.22–4.02)
Global P value^c			0.45

^aInformation on at least one tagSNP.
^b11 rare haplotypes combined. Each haplotype has frequency <3% among the controls.
^cProbability ratio test.
^d19 rare haplotypes combined. Each haplotype has frequency <3% among the controls.
^e19 rare haplotypes combined. Each haplotype has frequency <3% among the controls.
ATM, ataxia-telangiectasia mutated; CHEK2, checkpoint kinase 2; CI, confidence interval; ERBB2, v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2; HR, hazard ratio; tagSNP, haplotype-tagging SNP.

ISSN: 1465-542X