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Cancer Diagnosis & Monitoring

The genome of a cancer cell often contains many DNA variations and/or structural rearrangements. A cancer cell genome is not static, but changes with disease progression.


It's an enormous job to fully understand what the changes in a cancer genome mean for patients, especially as each type of cancer requires a unique approach. Many times we are uncertain about what we find because we don't yet have enough information about those changes from other patients. Thousands of researchers around the world are working together on this problem and large cancer databases are being built so we can be more sure about what the changes mean. At the same time large research studies are underway to link DNA changes with therapeutic outcomes so that patients are given the right therapy at the right time.  

Luckily, for some types of cancers we are much more certain as the changes are already well defined. For example, mutations in BRCA1 or BRCA2 genes are known to be associated with a very high risk of breast cancer.

Analysing the changes in cancer cell DNA and comparing them to the DNA from a patient's healthy cells can help scientists and clinicians to:detect cancer,

  • classify the type and severity of the cancer,
  • determine whether the cancer has been inherited or not,
  • understand the cause of the cancer,
  • monitor cancer progression,
  • provide a more accurate prognosis, and
  • predict which therapies will work, and just as importantly, which therapies won't work.