Molecular genetics methods in discovery of chromosome structure

Somatically acquired tumour genome alterations underlie many of the changes in gene expression that promote tumour formation. These changes, ranging from single nucleotide changes to those involving parts of chromosomes or whole chromosomes, likely reflect the many different solutions taken by individual tumours to escape normal growth regulatory mechanisms. A variety of molecular and cytogenetic techniques, differing in resolution and capabilities for high throughput or single cell analysis, for example, have been used to investigate the altered state of tumour genomes. Some of these methods have become the mainstay of clinical cancer diagnosis and patient management.