RISK OF LIVER CANCER IN HFE-HEMOCHROMATOSIS

Atkins et al conducted a study examining the community incidence of hepatic malignancy in 451,186 UK Biobank participants of European ancestry, and stratified by carriage of C282Y and H63D variants in the HFE gene (JAMA 2020;324:2048-57). This study has its background in exploring the clinical penetrance of HFE Hemochromatosis. The commonest cause of HFE Hemochromatosis is C282Y homozygosity, which affects 0.5-0.6% of individuals of northern European descent. Whilst studies prior to discovery of the underlying genetic defect reported a significant association of clinically diagnosed Hemochromatosis with liver disease and liver cancer, there was limited contemporary data reporting liver-related outcomes, thus justifying the current population study.

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