Molecular genetics methods in discovery of chromosome structure

Research output: Chapter in Book/Report/Conference proceedingChapter


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.

Original languageEnglish (US)
Title of host publicationChromosomal Translocations and Genome Rearrangements in Cancer
PublisherSpringer International Publishing
Number of pages11
ISBN (Electronic)9783319199832
ISBN (Print)9783319199825
StatePublished - Jan 1 2015


  • CGH
  • Chromosome aberrations
  • Copy number
  • FISH
  • Whole genome sequencing

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology


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