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New DNA blood test could increase access to Herceptin


Wednesday 1 May 2013


A new blood test for women with breast cancer could identify more women who will benefit from the targeted treatment Herceptin without the need for uncomfortable biopsies.

The new ‘liquid biopsy’ uses cutting-edge genetic techniques to detect breast cancer DNA in the bloodstream, and was developed by a team at The Institute of Cancer Research, London, and The Royal Marsden NHS Foundation Trust.

The technique can detect whether breast cancers are being driven by too many copies of the HER2 gene - known as HER2 amplification - and could be used to pick out women who might benefit from Herceptin and other similar drugs, but are not currently receiving them.

Researchers believe it could be adapted to a range of other cancers and drug targets, allowing doctors to monitor genetic changes in tumours through a blood test rather than needing invasive biopsies.

The research is published in Clinical Cancer Research today (Wednesday, 1 May) and was funded by the National Institute of Health Research, with additional support from Cancer Research UK and the Dr Mildred Scheel Foundation for Cancer Research.

Currently, if a patient’s breast cancer relapses after initial treatment, doctors perform tumour biopsies to determine which treatments the cancer is most likely to respond to. But biopsies are uncomfortable, intrusive and only test part of a tumour – and it’s not possible to biopsy cancer repeatedly.

Previous research has shown that blood samples from cancer patients contain trace amounts of DNA from their tumour cells, known as circulating free DNA. In this study, scientists investigated whether analysing circulating free DNA could detect gene amplifications known to cause cancer growth.

Researchers took blood samples from 58 patients with recurrent breast cancer to assess the potential of a technique called digital PCR to detect HER2 amplification – which signifies a particularly aggressive form of breast cancer, but one which can be treated with Herceptin.

The new technique was able to accurately identify HER2-positive breast cancer 64% of the time, and HER2-negative cancer 94% of the time.

Dr Nicholas Turner, Clinical Researcher at The Institute of Cancer Research and Honorary Consultant Oncologist at The Royal Marsden, said: “Herceptin has been effective at treating HER2-positive breast cancers, but the problem with cancer-causing genes like HER2 is that they can be acquired or lost as a tumour progresses, so at any point in time you might miss a tumour for which Herceptin may work.

“It’s not possible to take multiple biopsies from patients through their treatment course, but this study shows that we can detect HER2-positive breast cancers through a blood sample. That could allow us to regularly monitor women with breast cancer using simple blood tests and potentially increase the number who are treated with Herceptin. The test is at this time at an early stage and does require further assessment in clinical trials before it could become widely available.”

Professor Alan Ashworth, Chief Executive of The Institute of Cancer Research, said: “Personalised cancer treatments are becoming highly sophisticated and tailored to individual cancers so it’s really important that doctors can make accurate assessments of the genetic make-up of tumours. This new liquid biopsy has exciting potential as a means of analysing tumour DNA in the blood stream, allowing clinicians to track genetic changes as they happen and adjust treatment to them. By assessing quickly and painlessly whether a particular gene is activated in breast cancer, doctors will be able to choose the best targeted therapy for their patients.”

Dr Naureen Starling, Associate Director of Clinical Research and Medical Oncologist at The Royal Marsden, said: “This is a very exciting development using a new blood based assessment to ensure the right patients receive the right targeted therapy. At The Royal Marsden we are committed to ensuring that patients receive treatment that is tailored specifically to them and their tumour and by reducing the need for biopsies, there will be significant benefits for our patients.”




For more information contact the ICR press office on 020 7153 5380 / [email protected] For enquiries out of hours, please call 07969 082520.

Notes to editors:

Different genetic mutations can exist within regions of the same tumour so biopsies can underestimate a tumour’s complexity and fail to predict whether a drug will treat it successfully.

HER2 amplification is found in 15-20% of breast cancers, so a simple blood test could allow more women to benefit from targeted treatments like Herceptin.


The Institute of Cancer Research, London, is one of the world’s most influential cancer research institutes.

Scientists and clinicians at The Institute of Cancer Research (ICR) are working every day to make a real impact on cancer patients’ lives. Through its unique partnership with The Royal Marsden Hospital and ‘bench-to-bedside’ approach, the ICR is able to create and deliver results in a way that other institutions cannot. Together the two organisations are rated in the top four cancer centres globally.

The ICR has an outstanding record of achievement dating back more than 100 years. It provided the first convincing evidence that DNA damage is the basic cause of cancer, laying the foundation for the now universally accepted idea that cancer is a genetic disease. Today it leads the world at isolating cancer-related genes and discovering new targeted drugs for personalised cancer treatment. The Cancer Therapeutics Unit and Drug Development Unit at the ICR and The Royal Marsden were recently honoured with the 2012 American Association for Cancer Research Team Science Award for the “tremendous impact” of their preclinical and clinical studies.

As a college of the University of London, the ICR provides postgraduate higher education of international distinction. It has charitable status and relies on support from partner organisations, charities and the general public.

The ICR’s mission is to make the discoveries that defeat cancer. For more information visit  

The Royal Marsden NHS Foundation Trust

The Royal Marsden opened its doors in 1851 as the world’s first hospital dedicated to cancer diagnosis, treatment, research and education.

Today, together with its academic partner, The Institute of Cancer Research (ICR), it is the largest and most comprehensive cancer centre in Europe treating over 44,000 patients every year.  It is a centre of excellence with an international reputation for groundbreaking research and pioneering the very latest in cancer treatments and technologies. The Royal Marsden also provides community services in the London boroughs of Sutton and Merton and in June 2010, along with the ICR, the Trust launched a new academic partnership with Mount Vernon Cancer Centre in Middlesex.  

Since 2004, the hospital’s charity, The Royal Marsden Cancer Charity, has helped raise over £50 million to build theatres, diagnostic centres, and drug development units.

Prince William became President of The Royal Marsden in 2007, following a long royal connection with the hospital.

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Cancer Research UK

 Cancer Research UK is the world’s leading cancer charity dedicated to saving lives through research

  • The charity’s groundbreaking work into the prevention, diagnosis and treatment of cancer has helped save millions of lives.  This work is funded entirely by the public.
  • Cancer Research UK has been at the heart of the progress that has already seen survival rates in the UK double in the last forty years.
  • Cancer Research UK supports research into all aspects of cancer through the work of over 4,000 scientists, doctors and nurses.
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