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Scientists find DNA variants linked with childhood kidney cancer



Sunday 29 April 2012



An international collaboration led by The Institute of Cancer Research (ICR) has found variations of the genetic code in two regions of the genome that increase the risk of developing Wilms tumour – the most common kidney cancer occurring in children.


Wilms tumour affects around one in 10,000 children and usually develops before the age of five. Wilms tumour responds well to treatment, with 90 per cent of cases being curable. The causes of the tumour are not known in most children but genes are known to play a role.


A study published in Nature Genetics today, and funded by the Wellcome Trust and Cancer Research UK, reports on the first scan of common variants in the genomes of Wilms tumour patients.


Using an approach called a genome wide association study, the team compared common DNA variants in the genetic code of almost 1,500 Wilms tumour patients with those in 3,850 healthy people in the US and UK.


They found two regions of the DNA code on chromosomes 2 and 11* containing variants that were significantly more common among patients with Wilms tumour.


Lead author, Professor Nazneen Rahman from The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust says: “Our previous studies show that there are undiscovered genetic factors that cause Wilms tumour, and this study brings us an important step closer to finding them.”


“The next step is to determine exactly what it is about these regions of the genome that is causing the link with Wilms tumour. This will lead to better understanding of the condition and, potentially, improved treatments.”


Importantly, the DNA regions where these changes have been identified include genes that are known to be involved in other cancers and diseases. Their identification provides insight into the biological pathways that may cause Wilms tumour, and are a potential target for new drugs.


A single-letter change in the DNA code found on chromosome 11 was in the gene DLG2, which is part of a biological system that ensures correct tissue growth during development. Disruption of this pathway has previously been linked to cancer. On chromosome 2, two single-letter changes in the DNA were found near the gene DDX1, which is involved in repairing damaged DNA. A number of known cancer genes have similar roles in DNA repair.


The team also identified three other DNA variants that were also likely to be linked to Wilms tumour that they are investigating further.




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

Notes to editors

* The DNA variants found were rs3755132 at 2p24 and rs790356 at 11q14.


Each year in the UK, around 80 children are diagnosed with Wilms tumour. 

The study involved hospitals across the UK including the Royal Marsden NHS Foundation Trust, the Sheffield Children's NHS Trust, Royal Victoria Infirmary in Newcastle, University Hospital Nottingham, Southampton General Hospital, Oxford Children's Hospital, Great Ormond Street Hospital for Children NHS Trust in London, Leicester Royal Infirmary, Birmingham Children's Hospital, Royal Aberdeen Children's Hospital, Cambridge University Hospitals NHS Foundation Trust, Leeds General Infirmary, Alder Hey Children's NHS Foundation Trust in Liverpool, Royal Hospital for Sick Children in Glasgow, Bristol Royal Hospital for Children and the Children's Hospital for Wales in Cardiff.

The study was led by the ICR in collaboration with the University of Florida and the Children's National Medical Center, Washington DC, in the US, the University of Alberta in Canada, and University College London and the University of Oxford in the UK.


The Institute of Cancer Research (ICR) is one of the world’s most influential cancer research institutes.

Scientists and clinicians at the 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.

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 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. For more information, visit


The Wellcome Trust is a global charitable foundation 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.


About 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
  • .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 0300 123 1861 or visit
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