Mutation of TCF1 encoding hepatocyte nuclear factor 1 alpha in gynecological cancer

Rebouissou, Sandra, Rosty, Christophe, Lecuru, Fabrice, Boisselier, Sophie, Bui, Hung, Le Frere-Belfa, Marie-Aude, Sastre, Xavier, Laurent-Puig, Pierre and Zucman-Rossi, Jessica (2004) Mutation of TCF1 encoding hepatocyte nuclear factor 1 alpha in gynecological cancer. Oncogene, 23 45: 7588-7592. doi:10.1038/sj.onc.1207989

Author Rebouissou, Sandra
Rosty, Christophe
Lecuru, Fabrice
Boisselier, Sophie
Bui, Hung
Le Frere-Belfa, Marie-Aude
Sastre, Xavier
Laurent-Puig, Pierre
Zucman-Rossi, Jessica
Title Mutation of TCF1 encoding hepatocyte nuclear factor 1 alpha in gynecological cancer
Journal name Oncogene   Check publisher's open access policy
ISSN 0950-9232
Publication date 2004-09
Sub-type Article (original research)
DOI 10.1038/sj.onc.1207989
Volume 23
Issue 45
Start page 7588
End page 7592
Total pages 5
Place of publication London, United Kingdom
Publisher Nature Publishing
Language eng
Formatted abstract
TCF1 (transcription factor 1) encoding hepatocyte nuclear factor 1α (HNF1α) 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 HNF1α expression in liver cell adenomas. To search for a role of HNF1α in other hormone-related neoplasias, we screened for HNF1α mutations in a series of 36 endometrial carcinomas, 29 breast carcinomas and 20 ovarian epithelial tumors. HNF1α mutations were identified in 4/36 (11%) of endometrial tumors. No mutation was found in ovarian and breast tumors. HNF1α mutations were somatic in all cases, monoallelic in three cases and biallelic in one case. These results suggest that HNF1α may contribute to endometrial carcinogenesis through complete HNF1α inactivation like in liver cell adenoma or by haploinsufficiency like in MSI-H colorectal cancer.
Keyword Endometrial cancer
Ovarian cancer
Breast cancer
Hepatocyte nuclear factor 1
Hnf1 alpha
Gene mutation
Liver cell adenoma
Microsatellite instability
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 14 times in Thomson Reuters Web of Science Article | Citations
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Created: Wed, 09 Mar 2011, 14:21:52 EST