HNF1A是抑癌基因，编码蛋白是肝细胞核因子-α，参与胰腺和肝特异性基因表达的转录因子。HNF1A与其他肝细胞核因子（HNF4A，HNF6）一起形成组织特异性调节回路并且充当肝和胰岛转录的主要调节剂。HNF1A的胚系突变导致年轻的成熟性糖尿病（MODY3），而在各种癌症中发现体细胞失活突变。在约40-50％的肝细胞腺瘤（HCA）中观察到HNF1A中的双等位基因体细胞失活突变和缺失。已经发现两种常见的HNF1A突变，W206（DNA结合结构域）和P291（反式激活结构域）。其中，W206是HCA独有的，而P291是HCA和MODY共有的。在罕见的肝细胞癌（HCC）病例中，HNF1A突变与其他基因改变相结合。

HNF1A gene encodes the protein Hepatocyte Nuclear Factor-α. HNF1A, together with other hepatocyte nuclear factors (HNF4A, HNF6) forms tissue-specific regulatory circuits and acts as master regulators of liver and pancreatic islet transcription. HNF1A cause Maturity Onset Diabetes of Young or MODY3. Bi-allelic somatic inactivating mutations and deletions in HNF1A are seen in about 40-50% of hepatocellular adenomas (HCAs). Two HNF1A mutations, W206 (DNA binding domain) and P291 (Trans-activation domain), have been found over represented across different studies. Among them, W206 is unique to HCA while P291 is common to both HCA and MODY. In rare cases of hepatocellular carcinomas (HCCs), HNF1A mutations were seen in combination with other genetic alterations.

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