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

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.

• Authors: Frederik Holst, Phillip R Stahl, Christian Ruiz, Olaf Hellwinkel, Zeenath Jehan, Marc Wendland, Annette Lebeau, Luigi Terracciano, Khawla Al-Kuraya, Fritz Jänicke, Guido Sauter, Ronald Simon
• Journal: Nature genetics (Nat Genet) Vol. 39 Issue 5 Pg. 655-60 (May 2007) ISSN: 1061-4036 [Print] United States
• PMID: 17417639 (Publication Type: Comparative Study, Journal Article)

Chemical References

• ESR1 protein, human
• Estrogen Receptor alpha

Topics

• Base Sequence
• Breast Neoplasms (genetics)
• Estrogen Receptor alpha (genetics)
• Female
• Gene Amplification (genetics)
• Gene Dosage (genetics)
• Humans
• Immunohistochemistry
• In Situ Hybridization, Fluorescence
• Molecular Sequence Data
• Polymerase Chain Reaction
• Sequence Analysis, DNA