Familial Hepatic Adenomas due to bi-allelic inactivation of HNF1A
Hepatocellular adenomas are rare benign liver tumours which have a risk of malignant transformation. Approximately 30-40% of hepatocellular adenomas are due to bi-allelic inactivating variants in the HNF1A gene. Most cases are sporadic but approximately 10% are familial (Bluteau et al 2002 Nature Genetics 32:312-315).
Patients with a germline variant in one allele of HNF1A are genetically predisposed to maturity onset diabetes of the young (subtype HNF1A). Bi-allelic inactivation of HNF1A in hepatocytes is a cause of hepatic adenomatosis and therefore adenomas are more common in patients with germline HNF1A variants.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.
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