학술논문
Mutation of TCF1 encoding hepatocyte nuclear factor 1ain gynecological cancer.
Document Type
Article
Author
Source
Subject
*CANCER in women
*TRANSCRIPTION factors
*GENETIC mutation
*LIVER cells
*LIVER cancer
*CANCER cells
*CONTRACEPTIVE drugs
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Language
ISSN
0950-9232
Abstract
TCF1: (transcription factor 1) encoding hepatocyte nuclear factor 1a(HNF1a) is mutated in 50%of liver cell adenomas, a benign tumor closely associated with oral contraceptive use. These genetic alterations inactivate both alleles, leading to the absence of wild-type HNF1aexpression in liver cell adenomas. To search for a role of HNF1ain other hormone-related neoplasias, we screened for HNF1amutations in a series of 36 endometrial carcinomas, 29 breast carcinomas and 20 ovarian epithelial tumors. HNF1amutations were identified in 4/36 (11%) of endometrial tumors. No mutation was found in ovarian and breast tumors. HNF1amutations were somatic in all cases, monoallelic in three cases and biallelic in one case. These results suggest that HNF1amay contribute to endometrial carcinogenesis through complete HNF1ainactivation like in liver cell adenoma or by haploinsufficiency like in MSI-H colorectal cancer.Oncogene (2004) 23, 7588-7592. doi:10.1038/sj.onc.1207989 Published online 23 August 2004 [ABSTRACT FROM AUTHOR]