Article
Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy.
JAMA - 24 Nov 2020
Atkins Janice L, Pilling Luke C, Masoli Jane A H, Kuo Chia-Ling, Shearman Jeremy D, Adams Paul C, Melzer David
Abstract excerpt
Importance: Hereditary hemochromatosis is predominantly caused by the HFE p.C282Y homozygous pathogenic variant. Liver carcinoma and mortality risks are increased in individuals with clinically diagnosed hereditary hemochromatosis, but risks are unclear in mostly undiagnosed p.C282Y homozygotes identified in community genotyping. Objective: To estimate the incidence of primary hepatic carcinoma and death by HFE...
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