Cancer cytogenetics

Abstract

The analysis of malignant cells with cytogenetic methods, or cancer cytogenetics, has been instrumental in elucidating the genetic basis of cancer, and much of our knowledge about specific chromosomal aberrations in cancers and the molecular events they trigger is based on the detection of nonrandom, cancer-specific cytogenetic abnormalities. In this chapter we first review how the field of cancer cytogenetics developed. Then we present an in-depth overview on the evolution of cytogenetic methods, which culminated in embracing molecular techniques and the transformation of cytogenetics to array-based, high-resolution, and high-throughput formats. Next, we summarize and discuss our current knowledge of chromosomal aberrations in cancer, and explore the consequences of genomic imbalances on the transcriptome of cancer cells, with a special emphasis on cancers of epithelial origin. Finally, we summarize the most pertinent diagnostic and prognostic applications of molecular cytogenetics related to cancer.