No evidence of increased risk of colorectal cancer in individuals heterozygous for the Cys282Tyr haemochromatosis mutation

Back ground and Aims: Previous studies have suggested that increased body i ron stores and heterozygosity for haemochromatosis are associated with an i ncreased risk of colorectal carcinoma. The aim of this study is to determin e if there is an association between (i)colorectal carcinoma and heterozygo sity 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 fe males, mean age 68.0 years) with sporadic colorectal carcinoma and 228 cont rols (145 males, 83 females, mean age 69.7 years) were studied. DNA was tes ted for the presence of the Cys282Tyr mutation by digestion with Rsa1 and f ragments 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 a nd tumour site or stage. Conclusions: Heterozygosity for the Cys282Tyr mutation of HFE does not appe ar. to be a risk factor for colorectal carcinoma. (C) 1999 Blackwell Scienc e Asia Pty Ltd.