Holst, FrederikHoivik, Erling A.Gibson, WilliamTaylor-Weiner, AmaroSchumacher, Steven E.Asmann, Yan W.Grossmann, PatrickTrovik, JoneNecela, Brian M.Thompson, E. AubreyMeyerson, MatthewBeroukhim, RameenSalvesen, Helga B.Cherniack, Andrew D.2016-06-142016Holst, F., E. A. Hoivik, W. J. Gibson, A. Taylor-Weiner, S. E. Schumacher, Y. W. Asmann, P. Grossmann, et al. 2016. “Recurrent hormone-binding domain truncated ESR1 amplifications in primary endometrial cancers suggest their implication in hormone independent growth.” Scientific Reports 6 (1): 25521. doi:10.1038/srep25521. http://dx.doi.org/10.1038/srep25521.2045-2322http://nrs.harvard.edu/urn-3:HUL.InstRepos:27320366The 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.en-USJournal Article2016-06-1410.1038/srep25521