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HNF1A-associated hepatic adenoma

Thursday 25 November 2010

Maturity onset diabetes of the young type 3 (MODY3) is a consequence of heterozygous germline mutation in HNF1A. A subtype of hepatocellular adenoma (HCA) is also caused by biallelic somatic HNF1A mutations (H-HCA), and rare HCA may be related to MODY3.

Germline HNF1A mutations could be associated with different molecular subtypes of HCA. H-HCA showed mutations profoundly inactivating hepatocyte nuclear factor-1alpha function.

They are associated with a genotoxic signature suggesting a specific toxicant exposure that could be associated with genetic predisposition.

See also

- HNF1A

References

- Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage. Jeannot E, Mellottee L, Bioulac-Sage P, Balabaud C, Scoazec JY, Tran Van Nhieu J, Bacq Y, Michalak S, Buob D; Groupe d’étude Génétique des Tumeurs Hépatiques (INSERM Network), Laurent-Puig P, Rusyn I, Zucman-Rossi J. Diabetes. 2010 Jul;59(7):1836-44. PMID: 20393147 (Free)