Importance of Mutation Analysis in Anti‐Cancer Therapy


Advances in cancer genome research have led to a paradigm shift of anti‐cancer treatment from cytotoxic chemotherapy to targeted therapy. Mutation analysis plays an indispensable role in identifying actionable molecular events, predicting responses to targeted therapies and ensuring optimal treatment. It helps clinical decision making to achieve efficient and cost‐effective anti‐cancer treatment. Liquid biopsy is a less invasive but promising strategy for repeated mutation analyses in cancer patients since it provides temporal information that is tumour‐ and treatment‐specific. Liquid biopsy can provide diagnostic and prognostic information and has the potential to replace tissue biopsy. This information can be used to assess tumour heterogeneity, monitor tumour dynamics before, during and after treatment, detect minimal residual disease and recurrence and identify resistance to therapy. Mutation analysis has become an integral part of precision cancer medicine.

Key Concepts

  • Anti‐cancer therapy is moving from the morphology‐based ‘one‐size‐fits‐all’ strategy to mutation profile‐based ‘personalised medicine’.
  • Mutation analysis plays an indispensable role in the selection of the most suitable anti‐cancer therapies.
  • Comprehensive and rapid mutation profiling has a significant impact on precision and so helps avoid under‐treatment, ineffective therapy or over‐treatment.
  • Failure of anti‐cancer treatment reflects our inability to profile tumour diversity, monitor tumour evolution and adapt therapeutic strategies accordingly.
  • Liquid biopsy is a less invasive but promising strategy to obtain insights into therapy‐induced selection of cancer cells.
  • Temporal and dynamic information from repeated liquid biopsy can help clinical decision making in cancer management.

Keywords: cancer genome; drive mutation; parallel testing; targeted therapy; resistance to therapy; clinical decision making; liquid biopsy; tumour heterogeneity; tumour dynamics

Figure 1. Sequential and parallel mutation analysis.


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Yu, Bing(Aug 2016) Importance of Mutation Analysis in Anti‐Cancer Therapy. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0026561]