Background and aims: Previous studies have suggested that increased body iron stores and heterozygosity for haemochromatosis are associated with an increased risk of colorectal carcinoma. The aim of this study is to determine if there is an association between (i) colorectal carcinoma and heterozygosity for the Cys282Tyr mutation of the haemochromatosis gene (HFE) and (ii) this mutation and tumour site or stage.
Methods: Two hundred and twenty-nine unselected patients (127 males, 102 females, mean age 68.0 years) with sporadic colorectal carcinoma and 228 controls (145 males, 83 females, mean age 69.7 years) were studied. DNA was tested for the presence of the Cys282Tyr mutation by digestion with Rsa1 and fragments separated by electrophoresis.
Results: Twenty-one patients with colorectal cancer and 23 control subjects were heterozygous for the Cys282Tyr mutation of HFE (relative risk 0.90). There was no association between heterozygosity of the Cys282Tyr mutation and tumour site or stage.
Conclusions: Heterozygosity for the Cys282Tyr mutation of HFE does not appear to be a risk factor for colorectal carcinoma.