Letter abstract
Nature Genetics 39, 655 - 660 (2007)
Published online: 8 April 2007 | doi:10.1038/ng2006
Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer
Frederik Holst1,6, Phillip R Stahl1,6, Christian Ruiz2,6, Olaf Hellwinkel3, Zeenath Jehan4, Marc Wendland1, Annette Lebeau1, Luigi Terracciano2, Khawla Al-Kuraya4, Fritz Jänicke5, Guido Sauter1 & Ronald Simon1
Using an Affymetrix 10K SNP array to screen for gene copy number changes in breast cancer, we detected a single-gene amplification of the ESR1 gene, which encodes estrogen receptor alpha, at 6q25. A subsequent tissue microarray analysis of more than 2,000 clinical breast cancer samples showed ESR1 amplification in 20.6% of breast cancers. Ninety-nine percent of tumors with ESR1 amplification showed estrogen receptor protein overexpression, compared with 66.6% cancers without ESR1 amplification (P < 0.0001). In 175 women who had received adjuvant tamoxifen monotherapy, survival was significantly longer for women with cancer with ESR1 amplification than for women with estrogen receptor–expressing cancers without ESR1 amplification (P = 0.023). Notably, we also found ESR1 amplification in benign and precancerous breast diseases, suggesting that ESR1 amplification may be a common mechanism in proliferative breast disease and a very early genetic alteration in a large subset of breast cancers.
- Department of Pathology, University Medical Center Hamburg Eppendorf, D-20246 Hamburg, Germany.
- Department of Pathology, University Hospital Basel, CH-4031 Basel, Switzerland.
- Department of Urology, University Medical Center Hamburg Eppendorf, D-20246 Hamburg, Germany.
- King Faisal Specialist Hospital and Research Centre, Riyadh 21211, Saudi Arabia.
- Department of Gynecology, University Medical Center Hamburg Eppendorf, D-20246 Hamburg, Germany.
- These authors contributed equally to this work.
Correspondence to: Ronald Simon1 e-mail: r.simon@uke.uni-hamburg.de
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