Main Menu

First Clinical Trial for Hereditary Breast Cancer


Charities Launch World's First Clinical Trial for Women with Hereditary Breast Cancer


Tuesday 1 May 2006


Breakthrough Breast Cancer and Cancer Research UK today launch the world's first international clinical trial to treat women with a form of hereditary breast cancer that has come back.


The trial coincides with the 10th anniversary of the identification of the BRCA2 gene, which causes some forms of hereditary breast cancer. It will compare carboplatin, a platinum-based drug not usually used to treat breast cancer, with standard chemotherapy.


Women who have been diagnosed with a faulty BRCA1 or 2 gene and whose breast cancer has returned elsewhere in the body will be eligible.


Around five per cent of breast cancers occur in women with a strong family history and more than 75 per cent of these families will have changes or mutations in BRCA1 or BRCA2.


Women who inherit changes in these genes have up to an 85% chance of developing breast cancer by the age of 70. Despite recent improvements in detection and treatment of early breast cancer, around 25% of women are likely to relapse.


Some populations are at greater risk of having faults in these genes; for instance around one in 44 Ashkenazi Jews carry a change in their BRCA genes compared to less than one in 100 people in the non-Jewish population.


The BRCA2 gene was identified 10 years ago by Cancer Research UK funded scientists at The Institute of Cancer Research. This research was led by Professor Mike Stratton and Professor Alan Ashworth, who is now Director of The Breakthrough Toby Robins Breast Cancer Research Centre. Carboplatin was developed at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust in research funded by Cancer Research UK.


Eligible patients for The Breakthrough Breast Cancer and Cancer Research UK Genetic Breast Cancer Trial will be randomly selected to receive either carboplatin or the current best standard breast cancer chemotherapy drug, docetaxel. It is hoped that around 150 women from hospitals in the UK, Europe, America and Australia will take part over a four year period.


The study is led by Chief Investigator, Dr James Mackay, a genetic oncologist at University College London (UCL), Dr Andrew Tutt, Breakthrough-funded scientist and consultant oncologist in the breast unit at Guy's and St Thomas' NHS Foundation Trust and Professor Max Parmar, director of the cancer division at the Medical Research Council's clinical trials unit.


Dr Mackay said: "This trial is unique because it is the first to treat a specific genetic population of breast cancer patients. It is also unusual for a drug to move directly from studies in the lab to trials with patients so quickly. But, because this is an established drug which is routinely used for the treatment of ovarian cancer, it has moved swiftly into trials and could be available to patients within five years if it proves to be effective."


If the trial is successful in patients with advanced disease then carboplatin will hold real promise for BRCA carriers with earlier forms of breast cancer.


Currently there is no specially tailored chemotherapy treatment for women with faulty BRCA genes who have recurrent breast cancer. These patients receive standard chemotherapy which is not always effective and can have unpleasant side effects.


Dr Tutt, who led the original research using the platinum-based drugs, said: "It's fitting that on the 10th anniversary of this important genetic discovery, we begin a trial using a class of drug that targets the genetic weakness in these cancerous cells and appears up to 20 times more active than the standard chemotherapy drugs in the lab.


"This genetically tailored chemotherapy treatment, carboplatin, acts in a much more focused manner than standard chemotherapy. While standard chemotherapy can affect any rapidly growing cell, these platinum drugs seem to be much more effective in destroying the cancerous BRCA cells. We hope this will mean improved quality of life and survival for women with this rare but important form of genetic breast cancer."


BRCA2 carrier and breast cancer survivor, Elaine Kitchen from Manchester, says: "I think it's wonderful that trials are now in place to test a more tailored treatment for women with genetic breast cancer. It gives real hope for the future of families like mine, who know they have a high chance of developing this disease."


Kate Law, head of clinical trials at Cancer Research UK, said: "We are delighted to be co-funding this trial which will hopefully improve treatments for this important group of women."


Patients who want to sign up for this Phase II trial will need to:

  • Have a known fault (mutation) in either BRCA1 or BRCA2; and
  • Have advanced breast cancer (cancer that has spread beyond the breast and local lymph glands and for which surgery is not suitable); and
  • Not have received any chemotherapy since the cancer has spread beyond their breast and lymph glands.


More information can be found by visiting or calling 08080 100 200 or 020 7061 8355 or by visiting Cancer Research UK's clinical trials database at:


This trial is funded by Breakthrough Breast Cancer and Cancer Research UK.


- ends -


For further information please contact:

Emma Sheppard

Media Relations Officer

Breakthrough Breast Cancer

[email protected]

0207 025 2488


Notes to editors:

  • For information on how to take part please visit or call The Breakthrough Information Line on 08080 100 200 (closed Bank Holiday Monday and Sundays. Normal opening hours: 8am-8pm Mon-Fri, 9am-12noon Sat). Cancer Research UK information nurses can also be contacted (during office hours) on 020 7061 8355. In addition, patients should discuss treatment options with their consultant to see if this treatment is suitable for them.
  • Health professionals can find out more through the following website:
  • Breakthrough Breast Cancer is the UK's leading charity committed to fighting breast cancer through research, campaigning and education. Our essence comes from the thousands of people who are committed to a single vision - to work for a future free from the fear of breast cancer. More information can be found at: or through the Breakthrough Information Line 08080 100 200.
  • Breakthrough Breast Cancer in partnership with The Institute of Cancer Research has established the UK's first dedicated breast cancer research centre - The Breakthrough Toby Robins Breast Cancer Research Centre.
  • The Breakthrough Toby Robins Breast Cancer Research Centre, is situated in the Mary-Jean Mitchell Green Building at the Chester Beatty Laboratories at The Institute of Cancer Research. It is the first dedicated breast cancer research facility in the UK and, under the directorship of Professor Alan Ashworth, its 100 scientists and clinicians are working on a programme of cutting edge biological research that ultimately aims to eradicate breast cancer, by discovering the causes of the disease, finding methods of prevention and developing new treatments and more effective diagnosis.
  • Over the last five years, major advances at the centre have elucidated that a protein called Endo180 plays a key role in breast cancer metastasis; identified new targets for therapeutic intervention, such as Aurora 2; and characterised tumours to aid prognosis for breast cancer patients. Centre scientists have also discovered a potential new drug, called a PARP inhibitor, for women with a type of hereditary breast cancer, currently in Phase I trials. Breakthrough Breast Cancer and The Institute of Cancer Research are also working in partnership on the Breakthrough Generations Study. Launched in September 2004 and spanning over 40 years, the study will involve more than 100,000 UK women aged 18 and over. The study aims to provide the most detailed information yet on what causes breast cancer and as a result give an understanding of how the disease can be prevented in the first place.
  • Breakthrough needs to raise at least £10 million a year to fund our pioneering research and education work.
  • The Institute of Cancer Research is Europe's leading cancer research centre with expert scientists working on cutting edge research. It was founded in 1909 to carry out research into the causes of cancer and to develop new strategies for its prevention, diagnosis, treatment and care. Website at:
  • The Institute works in a unique partnership with The Royal Marsden NHS Foundation Trust, forming the largest comprehensive cancer centre in Europe. This relationship enables close daily contact with those on the frontline in the fight against cancer - the clinicians, the carers and most importantly, the patients.
  • Breast cancer is now the commonest cancer in UK women, accounting for nearly 1 in 3 of all female cancers.
  • Nearly 41,000 women are diagnosed with breast cancer every year in the UK and 35 women will die every day from this disease.



comments powered by Disqus