Welcome to the Exeter Clinical Laboratory International website
NHS logo

HEPATIC ADENOMAS

Clinical Genetics Diabetes Genomics


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.

University of Exeter logo
A UKAS Accredited Medical Laboratory

8092

RD&E logo