Molecular Cytogenetic Analysis: Applications in Cancer


Molecular cytogenetics has played an important role in the rapid and precise characterisation of chromosome anomalies, which can serve as hallmarks of different types of cancer. The authors have considerably advanced their understanding of the molecular events involved in the initiation and progression of various cancers, with the aid of molecular cytogenetic technologies. Techniques such as fluorescence in situ hybridisation, as well as recent high‐throughput sequencing methods that give a comprehensive insight into cancer genomics, have helped in the early identification of at‐risk individuals. These techniques also allow for an earlier detection of cancer, prognosis optimisation and the opportunity for a cure. This article highlights the application of molecular cytogenetics analysis in various cancers.

Key Concepts:

  • All cancers display at least one numerical or structural chromosome aberration.

  • Molecular cytogenetics enables a clinician to decide the best testing strategy for cancer patients.

  • Molecular cytogenetic techniques provide a snapshot of all the molecular activities in a tumour sample facilitating the discovery of totally novel and unexpected functional roles of genes.

  • Techniques such as fluorescence in situ hybridisation is highly recommended for identifying key biomarkers in various cancers.

  • DNA microarray technology has led to identification of certain anomalies in cancer that were once thought to be non‐traceable.

  • Next generation sequencing has enabled to catalogue the genomic landscape of thousands of cancer genomes across many disease types.

  • Molecular cytogenetic methods have subclassified tumours that are important in identifying or tailoring responsiveness to targeted therapies.

  • The high sensitivity and specificity of the molecular cytogenetic techniques make them useful adjuvants to conventional banding in the screening for all types of chromosomal aberration.

  • A new era of bridging molecular cytogenetics and personalised medicine has emerged that will help to monitor disease progression and molecularly guided therapies.

Keywords: molecular cytogenetics; genomics; cancer; fluorescence in situ hybridisation; spectral karyotyping; M‐FISH; CGH; array‐CGH; next generation sequencing

Figure 1.

Applications of molecular cytogenetic techniques in cancer. Genetic abnormalities in cancer are detected by various molecular cytogenetic techniques (NGS, CGH, FISH and Arrays) that are routinely used for research and diagnostic purpose.



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Further Reading

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Das, Kakoli, and Tan, Patrick(Sep 2014) Molecular Cytogenetic Analysis: Applications in Cancer. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0025711]