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. 2008 Sep 9;99(6):974–977. doi: 10.1038/sj.bjc.6604624

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.

a

Haplotypes were established or inferred only in those cases who had data for both polymorphisms.

b

Those individuals who were homozygous for the haplotype containing the common allele for both polymorphisms were considered as the reference group.

c

Individuals harbouring at least one given haplotype (heterozygous or homozygous)

d

Individuals homozygous for a given haplotype.