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Detecting splice variants and their ratios in breast cancer biopsies

Improving tests of the HER2 gene for better management of breast cancer patients.

Unmet need

Breast cancer is the most common cancer in women and the second most common cancer overall. Breast cancer prognosis and treatment is determined by the composition of the breast tumour.

HER2 (human epidermal growth factor 2) is a gene that can play a role in the development of breast cancer. Tests for HER2 status are routinely carried out during initial diagnosis.

20-30% will receive a HER2 positive diagnosis with HER2 positive breast cancer being particularly aggressive and more likely to spread and/or recur.

HER2 positive status determines the treatment pathway. This is usually chemotherapy and immunotherapy e.g. Herceptin.

New and combined targeted therapies against HER2 have been approved and/or are being trialled. Despite these advances, resistance to current HER2 therapies remains an unresolved significant problem.

Different protein forms of HER2 (splice variants), expressed at high levels, can have opposing action in breast tumour growth and different responses to therapies.

There is the need for improved tests. The tests should distinguish between different forms of the HER2. This would afford better management of breast cancer patients.

The Technology: The HER2 GeneValU test

The HER2 GeneValU test can detect 4 splice variants. It can also determine their ratios in breast cancer biopsies.

Current screening for HER2 is undertaken by immunohistochemistry (HercepTest) and FISH. Its presence can lead to prescription of anti-HER2 therapies such as Herceptin.

HER2 clinical tests use different antibodies but they target the C-terminal region of the HER2 receptor. Therefore, these tests will only be able to detect variants containing this region of HER-2. They will not be able to detect N-terminal truncated variants. Additionally, these HER-2 IHC tests cannot distinguish between different HER2 variants even if they do contain the epitope for the antibody. This may be important as they have very different biological activity in cancer cells.

The predictive value of the HER2 GeneValU test can be used on its own and alongside current immunohistochemistry tests. This can help identify patients more likely to benefit (or not) from specific anti-HER2 therapies. It would identify some people as now HER2 positive status who with current tests are classed as HER2 negative.


  • Meets the need for improved tests that are capable of distinguishing between different forms of the HER2
  • The HER2 GeneValU test can measure HER2 variant levels and ratios which are currently not able to be profiled.
  • Affords greater stratification of breast cancer and more accurate directing of a treatment plan.

Intellectual Property

  • trial Details / Validation Data: available
  • available Territories: Global
  • patent Status Patent Number: Published patent: PCT/GB2020/051492
  • filing date: 19th June 2020 

Partnerships Strategy

We are looking to find commercial partners to further develop or licence this technology.


Meera Vijayararghavan: