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First Risk Genes Found for Bone Marrow Cancer



Sunday 27 November 2011



A team of scientists led by The Institute of Cancer Research (ICR) has shown for the first time that a person’s genes influences their risk of developing multiple myeloma, according to a paper publishing today in Nature Genetics.

Relatives of multiple myeloma patients were known to have a two- to fourfold increased risk of suffering the disease themselves, but until now scientists had not identified any genes responsible.

Using a technique called a genome wide association study, the scientists scanned the DNA of 1,675 patients with multiple myeloma and compared them to around 5,900 healthy controls. They found two regions of the genome* that were more common in people with multiple myeloma and were therefore linked to a higher chance of developing the disease.

While the additional risk from carrying any of the genes is modest – around a 30 per cent increased risk – the genes are common in the population. The authors therefore estimate the genes found play a role in around 37 per cent of multiple myeloma cases in European countries.

Joint senior author Professor Richard Houlston from the ICR says: “This is a very exciting development in our understanding of multiple myeloma. This study is the first to confirm that some people are genetically predisposed to multiple myeloma.  Compared to other cancer types, relatively little is known about the biological processes that cause multiple myeloma. By identifying these genetic variants, we are closer to understanding how this cancer develops. Ultimately, this could lead to improvements in diagnosis and treatment.”

Joint senior author Professor Gareth Morgan from the ICR and The Royal Marsden NHS Foundation Trust says: “Multiple myeloma is an aggressive cancer that sadly has poor survival rates. By learning more about the biology of multiple myeloma development, we hope to identify new drug targets – or even existing drugs – that could improve patient outcomes. Multiple myeloma is becoming more common as the population ages, and so it is even more important that we find new treatments.”

The team have started a larger study and expect to find further genetic factors.

Myeloma UK provided principal funding for the study, with additional support from Cancer Research UK and Leukaemia & Lymphoma Research.

Eric Low, Chief Executive of Myeloma UK, says: “Myeloma UK welcomes the publication of this important work. Understanding the biological and genetic basis for the onset and progression of myeloma is extremely important and will lead to better screening, earlier diagnosis and treatment in the future. Despite the implications that this may have for families, the overall risk of myeloma remains very low.”

Around 4,000 people in the UK are diagnosed each year with multiple myeloma, an aggressive cancer that affects a type of white blood cell in the bone marrow called plasma cells. Average survival after diagnosis is just three to five years, despite patients receiving intensive treatment with a combination of drugs.

Dr Julie Sharp, senior science information manager at Cancer Research UK, said: “While the genes discovered in this study have a relatively small impact on the risk of multiple myeloma, this research is the first to show exactly how faulty genes can affect a person’s risk of the disease. We know relatively little about the causes of multiple myeloma and it’s likely that there are many more factors at play here, but this takes us a step forward in increasing our knowledge of the disease.”


Media Contact: ICR Science Communications Manager Jane Bunce on 0207 153 5106 or after hours 077217 47900

Notes to editors:

* The two confirmed genetic variants were found on chromosome three (3p22.1, near ULK4 and TRAK1 genes) and seven (7p15.3, near DNAH11 and CDCA7L genes), while a promising association was observed on chromosome two (2p23.3, DTNB gene).

Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk with first authors Peter Broderick, Daniel Chubb, David C Johnson and Niels Weinhold is publishing in Nature Genetics on November 27 2011.

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
  • 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 cancer 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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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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MyelomaUK informs and supports people affected by myeloma, and helps improve treatment and standards of care through research, education, campaigning and raising awareness. Myeloma UK is the only organisation in the UK dealing exclusively with myeloma.

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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 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.
• Together with its partners and supporters, Cancer Research UK's vision is to beat cancer.

For further information about Cancer Research UK's work or to find out how to support the charity, please call 020 7121 6699 or visit

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