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Comment
. 2013 Dec;45(12):1415-6.
doi: 10.1038/ng.2831.

The search for ESR1 mutations in breast cancer

Steffi Oesterreich  1 , Nancy E Davidson
Affiliations
Comment

The search for ESR1 mutations in breast cancer

Steffi Oesterreich et al. Nat Genet. 2013 Dec.

Abstract

Two new studies report the identification of activating ESR1 gene mutations in aromatase inhibitor-resistant metastatic breast cancers. This insight into therapeutic resistance suggests new approaches that may be useful in the management of endocrine-resistant breast cancer.

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Figures

Figure 1
Figure 1. Schematic representation of identification of ESR1 mutations in metastatic breast cancer
The structural domains of ERα are activation function 1 (AF1), DNA binding domain (DBD), and AF2, which includes the ligand-binding domain (LBD). The mutations (small arrows) identified in refs 3 and are depicted below AF2/LBD, and an additional ESR1 mutation recently identified [in ref 2] is illustrated on top.
See this image and copyright information in PMC

Comment on

  • Activating ESR1 mutations in hormone-resistant metastatic breast cancer.
    Robinson DR, Wu YM, Vats P, Su F, Lonigro RJ, Cao X, Kalyana-Sundaram S, Wang R, Ning Y, Hodges L, Gursky A, Siddiqui J, Tomlins SA, Roychowdhury S, Pienta KJ, Kim SY, Roberts JS, Rae JM, Van Poznak CH, Hayes DF, Chugh R, Kunju LP, Talpaz M, Schott AF, Chinnaiyan AM. Robinson DR, et al. Nat Genet. 2013 Dec;45(12):1446-51. doi: 10.1038/ng.2823. Epub 2013 Nov 3. Nat Genet. 2013. PMID: 24185510 Free PMC article.
  • ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
    Toy W, Shen Y, Won H, Green B, Sakr RA, Will M, Li Z, Gala K, Fanning S, King TA, Hudis C, Chen D, Taran T, Hortobagyi G, Greene G, Berger M, Baselga J, Chandarlapaty S. Toy W, et al. Nat Genet. 2013 Dec;45(12):1439-45. doi: 10.1038/ng.2822. Epub 2013 Nov 3. Nat Genet. 2013. PMID: 24185512 Free PMC article.

References

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    1. Li S, Shen D, Shao J, Crowder R, Liu W, Prat A, He X, Liu S, Hoog J, Lu C, et al. Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts. Cell Rep. 2013;4(6):1116–1130. - PMC - PubMed
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