Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Short Report
  • Published:

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

Oncogene volume 23, pages 7588–7592 (2004)Cite this article

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.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2
Figure 3
Figure 4

Similar content being viewed by others

Abbreviations

HNF1:

hepatocyte nuclear factor 1α

TCF1:

transcription factor 1

MODY3:

maturity-onset diabetes of the young type 3

MSI-H:

microsatellite instability high

MSS:

microsatellite stable

LOH:

loss of heterozygosity

References

  • Aguanno A, Afar R and Albert VR . (1996). J. Biol. Chem., 271, 4528–4538.

  • Akiyama TE, Ward JM and Gonzalez FJ . (2000). J. Biol. Chem., 275, 27117–27122.

  • Bacq Y, Jacquemin E, Balabaud C, Jeannot E, Scotto B, Branchereau S, Laurent C, Bourlier P, Pariente D, de Muret A, Fabre M, Bioulac-Sage P and Zucman-Rossi J . (2003). Gastroenterology, 125, 1470–1475.

  • Baumhueter S, Mendel DB, Conley PB, Kuo CJ, Turk C, Graves MK, Edwards CA, Courtois G and Crabtree GR . (1990). Genes Dev., 4, 372–379.

  • Bluteau O, Jeannot E, Bioulac-Sage P, Marqués JM, Blanc JF, Bui H, Beaudoin JC, Franco D, Balabaud C, Laurent-Puig P and Zucman-Rossi J . (2002). Nat. Genet., 32, 312–315.

  • Bluteau O, Legoix P, Bayer J, Bioulac-Sage P, Flejou JF, Capron F, Monges G, Brechot C, Thomas G, Laurent-Puig P and Zucman-Rossi J . (1999a). Gastroenterol. Clin. Biol., 23, 1225–1232.

  • Bluteau O, Legoix P, Laurent-Puig P and Zucman-Rossi J . (1999b). Biotechniques, 27, 1100–1102.

  • Cereghini S, Yaniv M and Cortese R . (1990). EMBO J., 9, 2257–2263.

  • Chi YI, Frantz JD, Oh BC, Hansen L, Dhe-Paganon S and Shoelson SE . (2002). Mol. Cell, 10, 1129–1137.

  • Chouard T, Blumenfeld M, Bach I, Vandekerckhove J, Cereghini S and Yaniv M . (1990). Nucleic Acids Res., 18, 5853–5863.

  • Courtois G, Morgan JG, Campbell LA, Fourel G and Crabtree GR . (1987). Science, 238, 688–692.

  • Ellard S . (2000). Hum. Mutat., 16, 377–385.

  • Frain M, Swart G, Monaci P, Nicosia A, Stampfli S, Frank R and Cortese R . (1989). Cell, 59, 145–157.

  • Henderson BE, Ross R and Bernstein L . (1988). Cancer Res., 48, 246–253.

  • Ishii Y, Hansen AJ and Mackenzie PI . (2000). Mol. Pharmacol., 57, 940–947.

  • Laurent-Puig P, Legoix P, Bluteau O, Belghiti J, Franco D, Binot F, Monges G, Thomas G, Bioulac-Sage P and Zucman-Rossi J . (2001). Gastroenterology, 120, 1763–1773.

  • Laurent-Puig P, Plomteux O, Bluteau O, Zinzindohoue F, Jeannot E, Dahan K, Kartheuser A, Chapusot C, Cugnenc PH and Zucman-Rossi J . (2003). Gastroenterology, 124, 1311–1314.

  • Livak KJ and Schmittgen TD . (2001). Methods, 25, 402–408.

  • Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS and Bell GI et al (1996). Nature, 384, 455–458.

Download references

Acknowledgements

We thank Emmanuelle Jeannot (Inserm U434), Céline Boulard (I Curie), Rachida Bouarich (I Curie, UMR144 CNRS) and Evelyne Aladel (HEGP) for their help in mutation screening and excellent technical assistance. This work was supported by the association de la Recherche sur le Cancer no 3108 and the Fondation de France.

Author information

Authors and Affiliations

  1. Inserm U434, 27 rue Juliette Dodu, Paris, 75010, France

    Sandra Rebouissou, Sophie Boisselier & Jessica Zucman-Rossi

  2. CEPH Fondation Jean Dausset, 27 rue Juliette Dodu, Paris, 75010, France

    Sandra Rebouissou & Hung Bui

  3. Service d’Anatomopathologie, Institut Curie, 26 rue d’Ulm, Paris, 75005, France

    Christophe Rosty & Xavier Sastre

  4. Service de Gynécologie, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, 20 rue de Leblanc, Paris, 75015, France

    Fabrice Lecuru

  5. Service d’anatomopathologie Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, 20 rue Leblanc, Paris, 75015, France

    Marie-Aude Le Frere-Belfa

  6. Inserm U490, Laboratoire de Toxicologie Moléculaire, 45 rue des Saints Pères, Paris, 75006, France

    Pierre Laurent-Puig

Authors
  1. Sandra Rebouissou
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christophe Rosty
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Fabrice Lecuru
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Sophie Boisselier
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hung Bui
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Marie-Aude Le Frere-Belfa
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Xavier Sastre
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Pierre Laurent-Puig
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Jessica Zucman-Rossi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jessica Zucman-Rossi.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rebouissou, S., Rosty, C., Lecuru, F. et al. Mutation of TCF1 encoding hepatocyte nuclear factor 1α in gynecological cancer. Oncogene 23, 7588–7592 (2004). https://doi.org/10.1038/sj.onc.1207989

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.onc.1207989

Keywords

This article is cited by

Search

Advanced search

Quick links