Bi-allelic inactivation of TCF1 in hepatic adenomas.
作者： Olivier Bluteau , Emmanuelle Jeannot , Paulette Bioulac-Sage , Juan Martin Marqués , Jean-Frédéric Blanc
DOI: 10.1038/NG1001
关键词: Cancer research 、 Loss of heterozygosity 、 Hepatocyte nuclear factors 、 Endocrinology 、 Germline mutation 、 Hepatocellular adenoma 、 Malignant transformation 、 Mutation 、 HCCS 、 Adenoma 、 Internal medicine 、 Biology
摘要: Liver adenomas are benign tumors at risk of malignant transformation. In a genome-wide search for loss heterozygosity (LOH) associated with liver adenomas, we found deletion in chromosome 12q five ten adenomas. most cases, LOH was the only recurrent genetic alteration observed, suggesting presence tumor-suppressor gene that region. A minimal common region defined 12q24 included TCF1 (transcription factor 1), encoding hepatocyte nuclear 1 (HNF1; refs 1,2). Heterozygous germline mutations have been identified individuals affected maturity-onset diabetes young type 3 (MODY3; ref. 3). Bi-allelic inactivation 10 16 screened and heterozygous mutation were present three individuals. Furthermore, 2 well-differentiated hepatocellular carcinomas (HCCs) occurring normal contained somatic bi-allelic 30 HCCs. These results indicate TCF1, whether sporadic or MODY3, is an important event occurrence human adenoma, may be early step development some
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