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ESR1

MIM.133430 6q25

Friday 12 December 2003

See also: estrogen receptor (ER): ESR1 and ESR2

Cancer

Oestrogen receptor-alpha (ERalpha or ESR1)-regulated transcription in breast cancer cells involves protein co-factors that contribute to the regulation of chromatin structure.

These include co-factors with the potential to regulate histone modifications such as acetylation or methylation, and therefore the transcriptional state of target genes.

Much of the information regarding the interaction of specific co-factors with ER has been generated by studying specific promoter regions.

Pathology

- estrogen receptor alpha (ESR1) gene amplification (6q25 amplicon) is frequent in mammary adenocarcinomas (breast cancer) (17417639)

- ESR1 amplification by amp(6)(q25.1) in mammary adenocarcinomas (breast cancer)

Inhibitors

- tamoxifen

References

- The search for ESR1 mutations in breast cancer. Oesterreich S, Davidson NE. Nat Genet. 2013 Nov 25;45(12):1415-6. doi : 10.1038/ng.2831 PMID: 24270445

- Green KA, Carroll JS. Oestrogen-receptor-mediated transcription and the influence of co-factors and chromatin state. Nat Rev Cancer. 2007 Sep;7(9):713-22. PMID: 17721435

- Holst F, Stahl PR, Ruiz C, Hellwinkel O, Jehan Z, Wendland M, Lebeau A, Terracciano L, Al-Kuraya K, Janicke F, Sauter G, Simon R. Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer. Nat Genet. 2007 Apr 8; PMID: 17417639