HER2: The neu prognostic marker for breast cancer

Abstract

A fundamental mechanism of genetic alteration is amplification of entire gene sequences that results in overexpression of a gene product or protein. If the amplified gene is a member of the oncogene family and/or a regulator of DNA replication or cell cycle progression, overexpression of this oncoprotein may result in enhanced growth advantages for these cells. Amplification of one such oncogene, HER2 (neu, erbB-2), in up to 35% of human breast cancers is associated with a poor prognosis but may predict response to various therapeutic modalities. FDA-approved assays are available to detect the HER2 protein receptor or the HER2 gene sequence to determine eligibility for Herceptin treatment or adriamycin treatment in node positive patients, respectively. As testing for HER2 is becoming more common in the clinical laboratory, we provide an overview of the biology, diagnostic methods, and emerging clinical value of HER2 gene amplification.