Recurrent hormone-binding domain truncated ESR1 amplifications in primary endometrial cancers suggest their implication in hormone independent growth
Author(s)Holst, Frederik; Hoivik, Erling A.; Taylor-Weiner, Amaro; Schumacher, Steven E.; Asmann, Yan W.; Grossmann, Patrick; Trovik, Jone; Necela, Brian M.; Thompson, E. Aubrey; Salvesen, Helga B.; Cherniack, Andrew D.; Gibson, William J; Meyerson, Matthew L; Beroukhim, Rameen; ... Show more Show less
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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.
DepartmentInstitute for Medical Engineering and Science; Broad Institute of MIT and Harvard; Harvard University--MIT Division of Health Sciences and Technology
Nature Publiashing Group
Holst, Frederik; Hoivik, Erling A.; Gibson, William J.; Taylor-Weiner, Amaro; Schumacher, Steven E. et al. “Recurrent Hormone-Binding Domain Truncated ESR1 Amplifications in Primary Endometrial Cancers Suggest Their Implication in Hormone Independent Growth.” Scientific Reports 6, 25521 (May 2016): 1-7 © 2016 Macmillan Publishers Limited, part of Springer Nature
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