What question did this study set out to answer?

Determine the proportion of hepatocellular carcinoma cases homozygous for the HFE C282Y mutation and estimate the genotype's lifetime penetrance.

June 1, 2005BMC GastroenterologyOpen Access

Hepatocellular carcinoma and the penetrance of HFEC282Y mutations: a cross sectional study

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Cross-sectional study reveals elevated liver cancer risk in male HFE C282Y homozygotes, indicating low overall penetrance despite high relative risk.

Determine the proportion of hepatocellular carcinoma cases homozygous for the HFE C282Y mutation and estimate the genotype's lifetime penetrance.
Analyzed tissue biopsies from 144 hepatocellular carcinoma cases for HFE C282Y mutations.
Compared mutation frequencies against regional population samples, cancer intelligence registry data from East Anglia, and standard life tables.
Identified 8 of 144 cases (5.6%) as homozygous for the HFE C282Y mutation; all 8 cases were male, and 6 had a prior hereditary haemochromatosis diagnosis.
Male HFE C282Y homozygotes had higher odds of hepatocellular carcinoma diagnosis compared with non-carriers (OR = 14, 95% CI = 5–37).
Estimated lifetime penetrance for the HFE C282Y homozygous genotype ranged between 1.31% and 2.1% in males, whereas penetrance was zero in females.

Willis et al. (2005) studied this question.

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Cross-sectional study reveals elevated liver cancer risk in male HFE C282Y homozygotes, indicating low overall penetrance despite high relative risk.