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Scientists Find Areas of Genome that Increase Breast Cancer Risk


Sunday 09 May 2010


Scientists have found five new regions of the genome that increase a woman’s risk of developing breast cancer by between six and 16 per cent, according to a study in Nature Genetics today (Sunday)*.


The results of the study, funded by Cancer Research UK and the Wellcome Trust and carried out by scientists at the University of Cambridge and The Institute of Cancer Research (ICR), takes the total number of common ‘low risk’ genetic sites associated with breast cancer to 18.


The increased risk conferred by these genetic variants is small. But as more of these ‘low risk’ sites are found it may be possible to create tests for a combination of them that together significantly increase risk.


This could help doctors make decisions about prevention, diagnosis and treatment for women who are more likely to get breast cancer.


One of the sites identified contains a gene called CDK2NA, which regulates the process of cell division and is altered in the DNA of many tumours. This gene has also been linked to increasing the risk of a type of skin cancer called melanoma.


Interestingly, most of the regions found appear to predispose predominantly towards oestrogen receptor positive breast cancers. This could open new avenues for research into the use of drugs such as tamoxifen, which can reduce the risk of this form of breast cancer.  


The scientists scanned the entire genetic code of over 4,000 women with breast cancer and a family history of the disease for genetic variations that cropped up more often compared to healthy women.  


They then tested the most promising regions in over 12,000 women with breast cancer, and 12,000 women without breast cancer, in an international collaboration.


Study author Professor Nazneen Rahman, Professor of Human Genetics at the ICR, said: “Our results now take the total number of gene regions linked to the risk of breast cancer to 18, but we still don’t know which genes are causing this increased risk. Identifying the underlying genes and mechanisms behind breast cancer development is essential to increasing our understanding of the disease and ultimately finding new treatments.”


Lead author professor Doug Easton, director of Cancer Research UK’s Genetic Epidemiology Unit at the University of Cambridge, said: “While each of these sites have a small impact on breast cancer risk, by finding more of these genes we may be able to develop a test that can predict more reliably a woman’s risk of developing breast cancer.”


Breast cancer is the most common cancer in the UK with more than 45,500 new cases diagnosed each year.


Lifestyle factors play an important role in influencing the risk of breast cancer, but inherited factors are also important in determining an individual woman’s risk of the disease.


Dr Helen George, head of science information at Cancer Research UK, said: “This is by far the largest study of its kind to explore the common genetic variations that contribute to breast cancer risk. This research takes us a step closer to developing a powerful genetic test for the disease. Such a test could help doctors identify women who have an increased breast cancer risk so that they can make informed decisions about how to take steps to reduce their chance of developing the disease.“




For media enquiries please contact Simon Shears in Cancer Research UK press office on 020 7061 8054 or, out-of-hours, the duty press officer on 07050 264 059.


Notes to editors:

*Turnbull, C., et al Identification of five new breast cancer susceptibility for loci through a genome-wide association study (2010) Nature Genetics


About The Institute of Cancer Research (ICR)

  • The ICR is Europe’s leading cancer research centre.
  • The ICR has been ranked the UK’s top academic research centre, based on the results of the Higher Education Funding Council’s Research Assessment Exercise.
  • The ICR works closely with partner The Royal Marsden NHS Foundation Trust to ensure patients immediately benefit from new research. Together the two organisations form the largest comprehensive cancer centre in Europe.
  • The ICR has charitable status and relies on voluntary income, spending 95 pence in every pound of total income directly on research.
  • As a college of the University of London, the ICR also provides postgraduate higher education of international distinction.
  • Over its 100-year history, the ICR’s achievements include identifying the potential link between smoking and lung cancer which was subsequently confirmed, discovering that DNA damage is the basic cause of cancer and isolating more cancer-related genes than any other organisation in the world.
  • The ICR is home to the world’s leading academic drug development team. Several important anti-cancer drugs used worldwide were synthesised at the ICR and it has discovered an average of two preclinical candidates each year over the past five years.

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Wellcome Trust

The Wellcome Trust is a global charity dedicated to achieving extraordinary improvements in human and animal health. It supports the brightest minds in biomedical research and the medical humanities. The Trust's breadth of support includes public engagement, education and the application of research to improve health. It is independent of both political and commercial interests.

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About Cancer Research UK

  • Cancer Research UK is the world's leading charity dedicated to beating cancer 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 double in the last thirty years.
  • Cancer Research UK supports research into all aspects of cancer through the work of more than 4,800 scientists, doctors and nurses.
  • Together with its partners and supporters, Cancer Research UK's vision is to beat cancer.

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