Genome-based approaches for the diagnosis of breast cancer: a review with perspective

Abstract

SUMMARY Despite progress with microarray-based gene expression profiling of multiple genes concurrently, solid biomarkers or molecular classification have not been established as a result of Phase III randomized trials. Conventional clinicopathological characteristics and single-gene defect-based molecular tools based on the old dogma of reductionist approaches and linear experimentation that have created our knowledge in biology over the past century, and still today represent the basis for the prevention, diagnosis and treatment of all diseases in clinical medicine, are saving the lives of tens of thousands of patients with breast cancer. Almost 5000 manuscripts have been published on next-generation technologies in MEDLINE in the last 3 years, with 100 of them regarding breast cancer. This review considers evidence published after 2010 and up until October 2013 of the latest studies published using high-throughput next-generation techniques in significant numbers of samples from patients with breast cancer and data from trials enrolled on ClinicalTrials.gov website. A perspective estimation of the potential and challenges of modern approaches are also explained in detail.