(Journal of the National Cancer Institute) -- Mutations in the hereditary hemochromatosis gene (HFE) are associated with an increased risk of colon cancer, according to a new study in the January 15 issue of the Journal of the National Cancer Institute.

Hereditary hemochromatosis is an autosomal recessive disease that is characterized by iron overload, which leads to dysfunction of the pancreas, liver, heart, and other organs. Although the disease itself is rare, the HFE gene mutations that cause the disease occur in up to 15% of the U.S. population. HFE gene mutations are associated with increased total body iron stores in some people. Because high iron levels can lead to free radical formation and DNA damage, Nicholas J. Shaheen of the University of North Carolina at Chapel Hill and colleagues performed a population-based, case¡Vcontrol study to assess colon cancer risk among individuals with and without HFE gene mutations.

The investigators looked for two major HFE gene mutations, C282Y and H63D. They found that the allele frequencies of the H63D and C282Y mutations were greater among case patients with colon cancer than among cancer-free control subjects. Also, subjects with any HFE gene mutation were more likely to have colon cancer than subjects with no HFE gene mutations, when the analysis was adjusted for other potential risk factors. The risk of colon cancer associated with an HFE gene mutation was independent of a family history of colon cancer.

"If subsequent studies confirm that mutations in the HFE gene are a risk factor for colon cancer, testing for such mutations may allow the identification of a subgroup of individuals that might benefit from intensified colorectal cancer screening," the authors say.