Recurrent hormone-binding domain truncated ESR1 amplifications in primary endometrial cancers suggest their implication in hormone independent growth

Frederik Holst, Erling A. Hoivik, William J. Gibson, Amaro Taylor-Weiner, Steven E. Schumacher, Yan Asmann, Patrick Grossmann, Jone Trovik, Brian M. Necela, E Aubrey Thompson, Matthew Meyerson, Rameen Beroukhim, Helga B. Salvesen, Andrew D. Cherniack

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Abstract

The estrogen receptor alpha (ERα) is highly expressed in both endometrial and breast cancers, and represents the most prevalent therapeutic target in breast cancer. However, anti-estrogen therapy has not been shown to be effective in endometrial cancer. Recently it has been shown that hormone-binding domain alterations of ERα in breast cancer contribute to acquired resistance to anti-estrogen therapy. In analyses of genomic data from The Cancer Genome Atlas (TCGA), we observe that endometrial carcinomas manifest recurrent ESR1 gene amplifications that truncate the hormone-binding domain encoding region of ESR1 and are associated with reduced mRNA expression of exons encoding the hormone-binding domain. These findings support a role for hormone-binding alterations of ERα in primary endometrial cancer, with potentially important therapeutic implications.

Original languageEnglish (US)
Article number25521
JournalScientific Reports
Volume6
DOIs
StatePublished - May 10 2016

ASJC Scopus subject areas

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    Holst, F., Hoivik, E. A., Gibson, W. J., Taylor-Weiner, A., Schumacher, S. E., Asmann, Y., Grossmann, P., Trovik, J., Necela, B. M., Thompson, E. A., Meyerson, M., Beroukhim, R., Salvesen, H. B., & Cherniack, A. D. (2016). Recurrent hormone-binding domain truncated ESR1 amplifications in primary endometrial cancers suggest their implication in hormone independent growth. Scientific Reports, 6, [25521]. https://doi.org/10.1038/srep25521