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 W. Asmann, Patrick Grossmann, Jone Trovik, Brian M. Necela, E. Aubrey Thompson, Matthew Meyerson, Rameen Beroukhim, Helga B. Salvesen, Andrew D. Cherniack

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

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

  • General

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