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ESR1 gene amplification in breast cancer: a common phenomenon?

Nature Genetics volume 40, pages 809–810 (2008)Cite this article

To the Editor:

Holst et al. have recently reported that 15.3% and 20.6% of breast cancers harbor ESR1 copy number gains and gene amplification, respectively1. ESR1 gains and amplification correlated with ERα expression; however, 2.4% of the gains and 0.6% of the amplified cases failed to show expression of the gene product. Although retrospective and uncontrolled, these data suggested that ESR1 amplification could help identify a subgroup of individuals with breast cancer who would benefit most from endocrine therapy1. Holst et al.1 described that ESR1 gene amplifications were first identified in their unpublished analysis of breast cancers using 10K Affymetrix SNP arrays. They hypothesized that ESR1 gene amplifications were not found in most previous comparative genomic hybridization (CGH) and microarray-based (aCGH) studies as a result of the small size of the amplicon. Fluorescence in situ hybridization (FISH) analysis revealed that ESR1 gene amplification was predominantly as “a clustered arrangement of additional ESR1 copies” that was suggestive of homogeneously staining regions (HSR)-type amplification. These results were subsequently supported by means of quantitative real-time copy number PCR (q-PCR) analyses using ESR2 as the reference gene, in cases where FISH analysis demonstrated normal copy numbers of ESR2 (ref. 1).

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Authors and Affiliations

  1. The Breakthrough Breast Cancer Research Centre, SW3 6JB, London, UK

    Jorge S Reis-Filho, Suzanne Drury, Maryou B Lambros, Caterina Marchio, Nichola Johnson, Rachael Natrajan, Janine Salter, Olivia Fletcher, Alan Ashworth & Mitch Dowsett

  2. Academic Department of Biochemistry, The Royal Marsden Hospital Trust, SW3 6JJ, London, UK

    Suzanne Drury, Janine Salter, Pauline Levey & Mitch Dowsett

  3. CR-UK Epidemiology and Genetics, London School of Hygiene and Tropical Medicine, WC1E 7HT, London, UK

    Julian Peto

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  1. Jorge S Reis-Filho
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  2. Suzanne Drury
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Correspondence to Mitch Dowsett.

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Supplementary Methods, Supplementary Table 1 and Supplementary Figure 1 (PDF 3341 kb)

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Reis-Filho, J., Drury, S., Lambros, M. et al. ESR1 gene amplification in breast cancer: a common phenomenon?. Nat Genet 40, 809–810 (2008). https://doi.org/10.1038/ng0708-809b

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