7. Pharmacogenomics, pharmacogenetics and cancer

7.1. Somatic mutation

Cancer is widely seen as a genetic disease. If many mutations occur in certain genes, this can lead to tumour growth. The specific mutation(s) present in any one cancer can affect how it responds to treatment and cause it to be more or less aggressive.

If researchers understand these mutations, they can:

  • Develop new medicines that target mutated cell signalling pathways in tumours.
  • Find better ways to predict how a tumour will respond to a medicine.

A well-known example of a targeted treatment is the medicine ‘imatinib’ for the treatment of chronic myelogenous leukaemia (CML). CML is a rare blood cancer which is caused by a mutation in the tissue that produces new blood cells (bone marrow). The tissue changes lead cells to grow and devide out of control which causes a tumour. Imatinib targets the mutated protein (known as ‘Bcr‑Abl’) so that cell production becomes normal again.