Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer - PubMed (original) (raw)

Comparative Study

doi: 10.1038/ng2006. Epub 2007 Apr 8.

Phillip R Stahl, Christian Ruiz, Olaf Hellwinkel, Zeenath Jehan, Marc Wendland, Annette Lebeau, Luigi Terracciano, Khawla Al-Kuraya, Fritz Jänicke, Guido Sauter, Ronald Simon

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Comparative Study

Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer

Frederik Holst et al. Nat Genet. 2007 May.

Abstract

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.

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