Table 2. Haplotype frequenciesa by mutation and disease status and HR estimates for breast cancer.
Unaffected (%) | Affected (%) | HR | 95% CI | P-value | |
---|---|---|---|---|---|
BRCA1 mutation carriers | |||||
p53 haplotype | |||||
No Ins-Arg72/No Ins Arg72b | 49.60 | 50.50 | 1.00 | ||
No Ins-72Pro | |||||
Onec | 23.30 | 23.30 | 1.05 | 0.84–1.32 | 0.64 |
Twod | 2.80 | 2 | 0.80 | 0.47–1.38 | 0.42 |
Ins16bp-72Pro | |||||
One | 23.80 | 23.10 | 1.03 | 0.83–1.28 | 0.79 |
Two | 2.20 | 2.10 | 1.16 | 0.54–2.50 | 0.70 |
Ins16bp-Arg72 | |||||
One | 4 | 3.30 | 1.42 | 0.96–2.10 | 0.08 |
Two | — | — | — | — | — |
BRCA2 mutation carriers | |||||
p53 haplotype | |||||
No Ins-Arg72/No Ins Arg72 | 47.50 | 55.90 | 1.00 | ||
No Ins-72Pro | |||||
One | 26.50 | 23.60 | 0.82 | 0.53–1.26 | 0.35 |
Two | 0.90 | 0.90 | 1.41 | 0.56–3.55 | 0.46 |
Ins16bp-72Pro | |||||
One | 26.50 | 19.40 | 0.81 | 0.52–1.27 | 0.36 |
Two | 2.10 | 2.20 | 0.72 | 0.14–3.86 | 0.70 |
Ins16bp-Arg72 | |||||
One | 2 | 2.70 | 1.11 | 0.42–2.97 | 0.83 |
Two | — | — | — |
Abbreviations: CI=confidence interval; HR=hazard ratio.
HRs corresponding to the haplotype associated with increased cancer risk in the original study are in bold.
Haplotypes were established or inferred only in those cases who had data for both polymorphisms.
Those individuals who were homozygous for the haplotype containing the common allele for both polymorphisms were considered as the reference group.
Individuals harbouring at least one given haplotype (heterozygous or homozygous)
Individuals homozygous for a given haplotype.